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Correa Brito L, Grinspon RP, Lopez Dacal J, Scaglia P, Esnaola Azcoiti M, Izquierdo A, Ropelato MG, Rey RA. Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex.J Pers Med. 2023;13(7):1158 doi:10.3390/jpm13071158
Correa Brito L, Rey RA. Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms. J Clin Endocrinol Metab. 2023;108(8):e636-e637. doi: 10.1210/clinem/dgad091
Correa Brito LC, Rey RA. Taming idiopathic central precocious puberty: high frequency of imprinting disorders in familial forms. J Clin Endocrinol Metab. 2023 doi:10.1210/clinem/dgad091
Costanzo M, Belgorosky A, Guercio G. Desarrollo sexual diferente: clasificacion y estudio. En: Endocrinología Pedriátrica. Hernán García Francisca Grob Alejandro Martínez editores. 2023. Ediciones Universidad Catolica de Chile. Pag. 437-446. ISBN 9789561431317
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Grinspon RP, Castro S, Rey RA. Up-to-Date Clinical and Biochemical Workup of the Child and the Adolescent with a Suspected Disorder of Sex Development. Horm Res Paediatr. 2023;96(2):116-127 doi:10.1159/000519895
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Keselman A. Crecimiento en niños nacidos pequeños para la edad gestacional. Tratamiento con hormona de crecimiento. Arch Argent Pediatr2023;e202202967. doi:10.5546/aap.2022-02967
Landi E, Karabatas L, Gómez TR, Salatino L, Scaglia P, Ramírez L, Keselman A, Braslavsky D, Sanguineti N, Pennisi P, Rey RA, Bergadá I, Jasper HG, Domené HM, Plazas PV, Domené S. An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development. Hum Mol Genet. 2023;32(15):2473-2484. doi:10.1093/hmg/ddad078
Liern M, Clement F, Niell C, Castro S, Sánchez CestonaS, Lisa D , Bergadá I. Uso de ibuprofeno en el tratamiento de pacientes pediátricos con poliuria y disnatremia. Reporte de una serie de casos. Arch Argent Pediatr2023;e202310035 doi: 10.5546/aap.2023-10035
Lopez Dacal J, Prada S, Correa Brito L, Ropelato MG, Ballerini MG, Rodriguez ME, Gutiérrez ME, Soria M, Morán L, Ferraro C, Bedecarrás P, Drelichman G, Aversa L, Bergadá I,. Rey RA, Grinspon RP. Testicular dysfunction at diagnosis in children and teenagers with haematopoietic malignancies improves after initial chemotherapy. Front Endocrinol (Lausanne). 2023; 14:1135467. Collection 2023. doi:10.3389/fendo.2023.1135467
Mattone MC, Lobo de la Vega MV, Redondo EJ, D’Alessandro P, Perez Garrido N, Galluzzo ML, Costanzo M, Zaidman V, Lazzati JM, Berensztein E, Ramirez P, Marino R, Belgorosky A, Ciaccio M, Bailez M, Guercio G. A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings. Sex Dev. 2023:1-7. doi: 10.1159/000526992.
Rey RA. Steroid receptors in the testis: implications in the physiology of prenatal and postnatal development and translation to clinical application. Histol Histopathol. 2023;38(4):373-389. doi:10.14670/HH-18-533
Guntsche Z. Spontaneous Physical Activity Associates with Higher Adiponectin/ Myostatin Ratio and Lower Cardiometabolic Risk in Argentinean Children with Obesity and A Parental History of Metabolic Syndrome. J Obes Metab Dis. 2022; 2: 1-15
Abiuso A, Varela M, Raices T, Irusta G, Lazzati J, Besio Moreno M, Cavallotti A, Belgorosky A, Pignataro O, Berensztein E, Mondillo C. Histidine decarboxylase inhibitors: a novel therapeutic option for the treatment of leydigioma. J Endocrinol. 2022;255(3):103-116. doi: 10.1530/JOE-21-0419. PMID: 36069766.
Boulgourdjian E, Alonso G, Arcari A, Bengolea SV, Costanzo M, D´Amato S, Keselman A, Martin S, Pipman VR, Rodríguez Azrak MS. Tratamiento con análogos de la hormona liberadora de gonadotrofinas (aGnRH) en niñas, niños y adolescentes. Arch Argent Pediatr 2022;120(1):S1-S8. doi: 10.5546/aap.2022.S1
Comité Nacional de Endocrinología. Tratamiento con análogos de la hormona liberadora de gonadotrofinas (aGnRH) en niñas, niños y adolescentes [Treatment with gonadotropin-releasing hormone analogs (GnRHa) in childhood and adolescence]. Arch Argent Pediatr. 2022 Feb;120(1):S1-S8. Spanish. doi: 10.5546/aap.2022.S1.
Costanzo M, Arcari A, Keselman A, Alonso G, Pipman V, Martin S, D’Amato S, Rodríguez Azrak MS, Boulgourdjian E. Incorporación al Plan Médico Obligatorio del tratamiento con análogos de la hormona liberadora de gonadotrofinas (aGnRH) para la pubertad precoz central. Arch Argent Pediatr 2022;120(2):e122.4. Comité Nacional de Endocrinología.
Bernal Barquero CE, Martín M, Geysels RC, Peyret V, Papendieck P, Masini-Repiso AM, Chiesa AE, Nicola JP. An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism. Thyroid 2022; Volume 32, Number 1. doi:10.1089/thy.2021.0344
Bernal Barquero CE, Geysels RC, Jacques V, Carro GH, Martín M, Peyret V, Abregú MC, Papendieck P, Masini-Repiso AM, Savagner F, Chiesa AE, Citterio CE, Nicola JP. Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect. Int. J. Mol. Sci. 2022, 23, 9251. doi: 10.3390/ijms23169251
Castro S, Brunello F, Sansó G, Scaglia P, Azcoiti M, Izquierdo A, Villegas F, Bergadá I, Ropelato M, Martí M, Rey R, Grinspon R. Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting with Dissociated Central Hypogonadism: Case Report. Front Pediatr 2022 doi: 10.3389/fped.2022.887658.
Costanzo M, Touzon MS, Marino R, Guercio G, Ramirez P, Mattone MC, Pérez Garrido N, Bailez MM, Vaiani E, Ciaccio M, Galluzzo Mutti ML, Belgorosky A, Berensztein E. Gonadal tumor development in 46,XX disorders of gonadal development. Eur J Endocrinol. 2022;187(3):451-462. doi: 10.1530/EJE-22-0283. PMID: 35900314.
Del Pino M, Viterbo GL, Arenas MA, Perez Garrido N, Ramirez P, Marino R, Belgorosky A, Fano V. Growth in height and body proportion from birth to adulthood in hereditary hypophosphatemic rickets: a retrospective cohort study. J Endocrinol Invest. 2022;45(7):1349-1358. doi: 10.1007/s40618-022-01768-9.
Edelsztein NY, Valeri C, Lovaisa MM, Schteingart HF, Rey RA. AMH Regulation by Steroids in the Mammalian Testis: Underlying Mechanisms and Clinical Implications. Front. Endocrinol. 2022; 13:906381. doi: 10.3389/fendo.2022.906381
Dujovne N, Quarracino M, Gazek N, Lazzati JM, Zaidman V, Herzovich V. Hipertiroidismo neonatal: una urgencia endocrinológica que debemos conocer y reconocer. Medicina Infantil 2022: vol XXIX (1): 81-83
Ferolla FM, Yfran EW, Ballerini MG, Caratozzolo A, Toledano A, Giordano AC, Acosta PL, Cassinelli H, Bergada I, Ropelato MG, Contrini MM, López EL. Serum Vitamin D Levels and Life-Threatening Respiratory Syncytial Virus Infection in Previously Healthy Infants. The Journal of Infectious Diseases JID 2022:XX. doi:10.1093/infdis/jiac033
Grinspon RP, Rey R. Genética molecular en andrología pediátrica. In: Levalle O, Calandra R, Eds. Andrología Molecular y Clínica: Interacciones. Buenos Aires: Editorial Ascune, 2022, pp. 61-79. ISBN 978-950-9124-93-6. doi: 10.1093/infdis/jiac033
Giacomozzi C, Martin A, Fernández MC, Gutiérrez M, Lascone M, Domené H, Dominici FP, Bergadá I, Cangiano B, Persani L, Pennisi PA. Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance. The Journal of Clinical Endocrinology &Metabolism, 2023, 00, 1–15. doi: 10.1210/clinem/dgac738
Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M, Ram N, Banerjee I, Çetinkaya S, Buonocore F, Güran T, Achermann J, Metherell L, Prasad R. A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review. EndocrConnect 2022;11, e220250. doi:10.1530/EC-22-0250
Marino R, Moresco A, Perez Garrido N, Ramirez P, Belgorosky A. Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome. Front Endocrinol (Lausanne). 2022; 13:803226. doi: 10.3389/fendo.2022.803226.
Martin A, Fernandez MC, Cattaneo ER, Schuster C, Venara M, Clément F, Berenstein A, García Lombardi M, Bergadá I, Gutierrez M, Marti MA, Gonzalez-Baro MR, Pennisi PA. Type 1 Insulin-Like Growth Factor Receptor (IGF1R) Nuclear Localization in High-grade Glioma cells enhances Motility, Metabolism and in vivo Tumorigenesis. Front. Endocrinol. 2022. doi: 10.3389/fendo.2022.849279
Mathó C, Fernández C, Bonanata J, De Liu X, Martin A, Vieites A, Sansó G, Barontini M, Jonasch E, Coitiño EL, Pennisi PA.VHL-P138R and VHL-L163R novel variants: mechanisms of VHL pathogenicity involving HIF-dependent and HIF-independent actions. Front. Endocrinol. 2022; 13:854365. doi:10.3389/fendo.2022.854365
Molina M, Papendieck P, Sobrero G, Balbi V, Belforte F, Bueno Martínez E, Adrover E, Olcese MC, Chiesa A, Miras MB, González V, Gomes Pio M, González-Sarmiento R, Targovnik HM, Rivolta CM. Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis. Endocrine 2022; 77:86–101. doi:10.1007/s12020-022-03054-3
Rey RA. Next-Generation Sequencing as First-Line Diagnostic Testing Patients With Disorders of Sex Development? The Journal of Clinical Endocrinology & Metabolism, 2022, 107, e2628–e2629. doi: 10.1210/clinem/dgac133
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Rey RA. Recent advancement in the treatment of boys and adolescents with hypogonadism Therapeutic Advances in Endocrinology and Metabolism. 2022, Vol. 13: 1–17 doi:10.1177/20420188211065660
Rey RA, Grinspon RP. Diferenciación sexual: anomalías. In: Levalle O, Calandra R, Eds. Andrología Molecular y Clínica: Interacciones. Buenos Aires: Editorial Ascune, 2022, pp. 139-166. ISBN 978-950-9124-93-6.
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Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V. Hereditary hypophosphatemic rickets and craniosynostosis. J Pediatr Endocrinol Metab. 2021;34(9):1105-1113. doi:10.1515/jpem-2021-0042.
Bailez MM, Costanzo M, Guercio G. Role of minimally invasive surgery (MIS) in different sexual development (DSD). Semin Pediatr Surg. 2021;30(4):151078. doi:10.1016/j.sempedsurg.2021.151078.
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Guercio G. Comentario bibliográfico: Mayor incidencia de Pubertad Precoz y Acelerada en niñas durante y después del aislamiento por la pandemia del Coronavirus 2019 (COVID-19) en Italia. Medicina Infantil, 2021; Vol XXVIII (2): 252-254
Marino R, Garrido NP, Ramirez P, Notaristéfano G, Moresco A, Touzon MS, Vaiani E, Finkielstain G, Obregón MG, Balbi V, Soria I, Belgorosky A.Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2021;106(7):e2789-e2802. doi: 10.1210/clinem/dgab033.
Marino R, Perez Garrido N, Ramirez P, Belgorosky A. Response to Letter to the Editor from Lao and Merke: «Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in CongenitalAdrenal Hyperplasia».J Clin EndocrinolMetab. 2021;106(7):e2837-e2838. doi: 10.1210/clinem/dgab281.
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Vaiani E, Felizzia G, Lubieniecki F, Braier J, Belgorosky A. Paediatric Langerhans Cell Histiocytosis Disease: Long-Term Sequelae in the Hypothalamic Endocrine System. Horm Res Paediatr. 2021;94(1-2):9-17. doi: 10.1159/000517040.
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Aleman MN, Luciardi MC, Mariani AC, Herrera HM, Albornoz ER, Luciardi HL, Bazán MC, Abregú AV. «Neutrophil/lymphocyte and platelet/lymphocyte ratios in obese children» Vol. Biocell. 2021; 46(2). ISSN 1667-5746 (online version)
Castro S, Cassinelli H, Bergada I. Raquitismo vinculado al uso de fórmulas elementales: Reporte de caso. Arch Argent Pediatr 2021;119(1):e49-e53 doi:10.5546/aap.2021e49
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Edelsztein NY, Rey RA. Regulation of meiosis initiation in the mammalian testis: novel aspects. Current Opinion in Endocrine and Metabolic Research 2020; in press.
Edelsztein N, Kashimada K, Schteingart HF, Rey RA. CYP26B1 declines postnatally in Sertoli cells independently of androgen action in the mouse testis .Molecular reproduction and development. 2020; 87:66–77. doi: 10.1002/mrd.23302.
Eozenou C, Gonen N, Touzon MS, Jorgensen A, Yatsenko SA, Fusee L, Kamel AK, Gellen B, Guercio G, Singh P, Witchel S, Berman AJ, Mainpal R, Totonchi M, Mohseni Meybodi A, Askari M, Merel-Chali T, Bignon-Topalovic J, Migale R, Costanzo M, Marino R, Ramirez P, Perez Garrido N, Berensztein E, Mekkawy MK, Schimenti JC, Bertalan R, Mazen I, McElreavey K, Belgorosky A, Lovell-Badge R, Rajkovic A, Bashamboo A. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene.
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Fernández CS, Taboas M, Bruque CD, Benavides-Mori B, Belli S, Stivel M, Oneto A, Pasqualini T, Delea M, Espeche LD, Kolomenski JE, Alba L, Buzzalino N, Dain L. Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency. Clinical Endocrinology (Oxford). 2020; 93(1):19-27. doi:10.1111/cen.14190
Freire AV, Ropelato MG, Rey R. Ovaries and Testes. In: Kovacs C, Deal C, Eds. Maternal-Fetal and Neonatal Endocrinology. 1st Edition. Boston: Academic Press Elsevier, 2020, pp. 625-641.
GallinoL, Hauk V, Fernández L, Soczewski E, Gori S, Grasso E, Calo G, Saraco N, Berensztein E, Waschek JA, Pérez Leirós C, Ramhorst R. VIP Promotes Recruitment of Tregs to the Uterine-Placental Interface During the Peri-Implantation Period to Sustain a Tolerogenic Microenvironment. Frontiers in immunology. 2020; 10:2907. doi: 10.3389/fimmu.2019.02907.
Guercio G, Saraco N, Costanzo M, Marino R, Ramirez P, Berensztein E, Rivarola MA, Belgorosky A. Estrogens in Human Male Gonadotropin Secretion and Testicular Physiology From Infancy to Late Puberty. Front Endocrinol (Lausanne). 2020;11:72. doi: 10.3389/fendo.2020.00072.
Grinspon RP, Bergadá I, Rey RA. Male Hypogonadism and Disorders of Sex Development. Frontiers in Endocrinology 2020; 11:211. doi: 10.3389/fendo.2020.00211
Marino S, Perez Garrido N, Ramírez P, Pujana M, Dratler G, Belgorosky A, Marino R. Molecular analysis of the CYP21A2 gene in dried blood spot samples. Análisis molecular del gen CYP21A2 en muestras de sangre seca en papel de filtro. Medicina (Buenos Aires). 2020;80(3):197-202.
Trinajstic E, Cicchitti A, González J, Bertona C, Guntsche Z, Lemos P, Ortiz L, Negri E, Bonade A, Abeledo R, Sosa R, Dimov L, Negri G, Rodriguez M. Diabetes Mellitus Tipo 1 Edad de comienzo y presencia en familiares de primer grado. Revista de la Sociedad Argentina de Diabetes. 2020; 54(1):15-20
Hirschler V, Lapertosa S, Scaiola Garcia C, Maldonado N, Guntsche Z, Miorin C, Obeziuk A, Molinari C, Gonzalez D. Adiposity, lifestyle behaviors, and cardiometabolic markers in Argentinean school children. Clinica Chimica Acta. 2020;507:280-285. doi:10.1016/j.cca.2020.05.008
Rey RA. Biomarkers of male hypogonadism in childhood and adolescence.Advances in Laboratory Medicine. 2020; 20200024. doi: 10.1515/almed-2020-0024
Rey RA, Grinspon RP. Androgen treatment in adolescent males with hypogonadism. American Journal of Men’s Health. 2020; 14: 1557988320922443. doi:10.1177/1557988320922443
Arcari A, Freire A, Escobar ME, Ballerini MG, Ropelato MG, Bergadá I, Gryngarten M. One Year Treatment with Gonadotropin-Releasing Hormone Analogues does not Affect Body Mass Index, Insulin Sensitivity or Lipid Profile in Girls with Central Precocious Puberty. Journal of pediatric endocrinology and metabolism. 2019; 32(2):181-186. doi:10.1515/jpem-2018-0290
Alonso G, Balbi V, Bazán de Casella C, Belgorosky A, BergadáI, Brunetto O, Cassinelli H, Ciaccio M, Keselman A, Miras MB, Morín A. Statement of Argentine pediatric endocrinologists on growth hormone interchangeability. Archivos Argentinos de Pediatria. 2019; 117(4):212-215. doi 10.5546/aap.2019.eng.213.
Bangalore Krishna K, Fuqua JS, Rogol AD, KleinKO, Popovic J, Houk CP, Charmandari E, Lee PA, Freire AV, Ropelato MG, Yazid Jalaludin M, Mbogo J, Kanaka Gantenbein C, Luo X, Eugste, EA, KleinKO, Vogiatzi MG, Reifschneider K, Bamba V, Garcia Rudaz C, Kaplowitz P, Backeljauw P, Allen DB, Palmert MR, Harrington J, Guerra-Junior G, Stanley T, Torres Tamayo M, Miranda Lora AL, Bajpai A, Silverman LA, Miller BS, Dayal A, Horikawa R, Oberfield S, Rogol AD, Tajima T, Popovic J, Witchel SF, Rosenthal SM, Finlayson C, Hannema SE, Castilla-Peon MF Mericq V, Medina Bravo.Use of Gonadotropin-Releasing Hormone Analogs (GnRHa) in Children: Update by an International Consortium. Hormone Research in Paediatrics. Hormone Research in Paediatrics. 2019; 91(6):357-372. doi:10.1159/000501336
Bastida MG, Garcia V, Alvarez RG, Avila S. Congenital Adrenal Hyperplasia; difficultiesin the neonatal diagnosis. Journal of Inborn Errors of Metabolism and Screening, 2019: 121. ISSN:23264098.
Costanzo M. Corticoterapia prolongada. Recomendaciones para la suspensión de los glucocorticoides sistémicos. Medicina Infantil (Revista del Hospital de Pediatría Garrahan).2019; Vol. XXVI (3): 327-331. Grafica Laf, Buenos Aires, Argentina. ISSN: 0328-0160
Da Silva TE, Lisboa Gomes N, Marcondes Lerário A, Keegan CE, Yumi NishiM, Carvalho FM, Vilain E, Barseghyan H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Corrêa Costa E, Luciani R, Carvalho Alexander J, MartinsE, Mitchell R, Frade Costa EM, Mendonca BB, Domenice S. Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. Journal of Clinical Endocrinology and Metabolism. 2019; 104(12):5923-5934. doi:10.1210/jc.2019-00984
Casali B, Villegas F, Armando R, Arguelles C, Fernández MC, Arberas C, Boywitta A, De Bellis R, Laudicina A, Ropelato MG, Bergadá I, del Rey G. Aplicación de Hibridación In Situ Fluorescente (FISH) en pacientes con sospecha clínica de Síndrome de Deleción 22q11.2 (SD22q11.2). Revista del Hospital de Niños (Buenos Aires). 2019; 61(272):9-17.
Dujovne N, Gazek N, Lazzati JM, Maceiras M, Belgorosky A, Herzovich V.Variables Predictivas de talla baja adulta en pacientes con hipotiroidismo adquirido grave de origen autoinmune. Archivos Argentinos de Pediatria. 2019;117(6):388-391 doi:105546/aap2019.388.
Edelsztein NY, Rey RA. Importance of the Androgen Receptor Signaling in Gene Transactivation and Transrepression for Pubertal Maturation of the Testis. Cells 2019; 8, 861; doi:10.3390/cells8080861.
Florio S, Mattone MC, Gazek N, Belgorosky A., Herzovich V, Dujovne N. Debilidad muscular con hipokalemia e hipertiroidismo en un adolescente con Síndrome de Down. Archivos Argentinos de Pediatría. 2019;117(1):e37-e40. doi:10.5546/aap2019.e37
Freire AV, Scaglia P, Gryngarten M, Gutiérrez M, Arcari A, Suárez L, Ballerini MG, Valinotto L, Natale M, Del Toro Camargo K, Bergadá I, Rey RA, Ropelato MG.Type A Insulin Resistance Syndrome-Novel insulin receptor gene mutation and familiar phenotypic variability. International Journal of Clinical Endocrinology and Metabolism. 2019; 5(1): 016-019. doi: 10.17352/ijcem.000037.
Grinspon RP, Arozarena M, Prada S, Bargman G, Sanzone M, Morales Bazurto M, Gutiérrez M,Bedecarrás P, KannemannA, Elena GO, Gottlieb S, Berenstein AJ, Ropelato MG, Bergadá I, Aversa LA, Rey RA. Safety of standardised treatments for haematologic malignancies as regards testicular endocrine function in children and teenagers. Human Reproduction. 2019; 34:2480-2494. doi: 10.1093/humrep/dez216.
Grinspon RP, Freire AV, ReyRA. Hypogonadism in Pediatric Health: Adult Medicine Concepts Fail. Trends in Endocrinology and Metabolism. 2019; 30:879-890. doi:10.1016/j.tem.2019.08.002.
Grinspon RP, Rey RA. Molecular Characterization of XX Maleness. International Journal of Molecular Sciences. 2019; 20, 6089. pii: E6089. doi: 10.3390/ijms2023608
Guercio G, Saraco N, Costanzo M, Marino R., Belgorosky, A. Human Aromatase Deficiency. En: Encyclopedia of Endocrine Diseases Second Edition, Volumen 5: 532-549. ISBN 978-0-12-812199-3. Edit Ilpo Huhtaniemi and Luciano Martini, 644p. 2019 Elsevier Inc. doi.org/10.1016/B978-0-12-801238-3.65212-1.
Keselman A, Martin A, Scaglia PA, Sanguineti N, ArmandoR, Gutiérrez M, Braslavsky D, Ballerini MG, Ropelato MG, Ramirez L, Landi E, Domené S, Castro JF, Cassinelli H, Casali B, del Rey G, Campos-Barros A, Nevado J, Domené HM, Jasper HG, Arberas C, Rey RA, Lapunzina P, Bergadá I, Pennisi P. A Homozygous Mutation in the Highly Conserved Tyr60 of the Mature IGF1 Peptide Broadens the Spectrum of IGF1 Deficiency. European Journal of Endocrinology. 2019; 181(5): K43-K53. doi: 10.1530/EJE-19-0563.
Ramírez L, Sanguineti N, Scaglia P, Keselman A, Ballerini MG, KarabatasL, Landi E, Castro J, Domené S, Pennisi P, Jasper H, Rey RA, Vázquez M, Domené H, Bergadám I, Gutiérrez M. A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI). Growth hormone & IGF research. 2020;50:61-70. doi: 10.1016/j.ghir.2019.12.005
Rubio B, Soto F, GazekN, Herzovich V, Dujovne N. Haga su diagnostico, Ejercicios Clínicos: Epifisiolisis bilateral de cadera secundaria a hipotiroidismo primario severo. Revista Medicina Infantil. 2019; Volumen XXVI N° 1: 57.
Salonia A, Rastrelli G, Hackett G, Seminara SB, Huhtaniemi IT, Rey RA, Hellstrom WJG, Palmert MR, Corona G, Dohle GR, Khera M, Chan YM, Maggi M. Paediatric and adult-onset male hypogonadism. Nature Reviews Disease Primers. 2019; 5(1):38. doi: 10.1038/s41572-019-0087-y
Sanguineti N, Braslavsky D, Scaglia PA, Keselman A, Ballerini MG, Ropelato MG, Suco S, Vishnopolska S, Berenstein AJ, Jasper H, Domené HM, Rey RA, Pérez Millán MI, Camper SA, Bergadá I. p.R209H GH1 variant challenges short stature assessment.Growth hormone & IGF research. 2020;50:23-26. doi: 10.1016/j.ghir.2019.11.002.
Schteingart HF, Picard JY, Valeri C, Marshall I, Treton D, Clemente N, Rey RA, Josso N. A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome. Human molecular genetics. 2019; 28(19): 3211-3218. doi: 10.1093/hmg/ddz147.
Touzon MS, Garrido NP, Marino R, Ramirez P, Costanzo M, Guercio G, Berensztein E, Rivarola MA, Belgorosky A. Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort. Journal of clinical research in pediatric endocrinology. 2019; 11(1):24-33. doi:10.4274/jcrpe.galenos.2018.2018.0185.
Urrutia M, Grinspon RP, Rey RA. Comparing the role of anti-Müllerian hormone as a marker of FSH action in male and female fertility. Expert Review of Endocrinology and Metabolism. 2019; 14:203-214; doi: 10.1080/17446651.2019.1590197
AbiusoAMB, Varela ML, Haro DurandL, Besio Moreno M, Marcos A, Ponzio R, Rivarola MA, Belgorosky A, Pignataro OP, Berensztein E, Mondillo C. Histamine H4 receptor as a novel therapeutic target for the treatment of Leydig-cell tumours in prepubertal boys. European journal of cancer.2018; 91:125-135. doi:10.1016/j.ejca.2017.12.003. PMID: 29367056.
Arcari A, Freire A, Ballerini MG, Ropelato MG, Escobar ME, Gryngarten M.Desarrollo Sexual Precoz en Niñas. Revista del Hospital de Niños (Buenos Aires) 2018:60 (270); 244-249.
Baquedano MS, Belgorosky A. Human Adrenal Cortex: Epigenetics and Postnatal Functional Zonation. Hormone Research in Paediatrics. 2018; 89:331–340.
Baquedano MS, Guercio G, Costanzo M, Marino R, Rivarola MA, Belgorosky A. Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone. Vitamins and Hormones (Academic press/Elsevier). 2018; 108:75-123. doi: 10.1016/bs.vh.2018.05.002
Castro S, Díaz Y, Rey RA. Orquidopexia tardía en niños con criptorquidia y aumento del riesgo de cáncer testicular. Revista del Hospital de Niños (Buenos Aires). 2018; 60: 284-292.
Clément F, Martin A, Venara M, Calcagno ML, Matho C, Maglio S, Garcia Lombardi M, Bergada I, Pennisi PA. Type 1 IGF Receptor Localization in Paediatric Gliomas: Significant Association with WHO Grading and Clinical Outcome. Hormones and Cancer. 2018;9(3):205-214. doi:10.1007/s12672-018-0328-7
Costanzo M, Garcia-Feyling J, Saraco N, Marino R, Perez-Garrido N, Touzon MS, Viterbo G, Lazzati JM, Patiño HC, Mattone C, Maceiras M, Belgorosky A, Guercio G. Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient. Hormone Research in Paediatrics. 2018;90(4):275‐282. doi:10.1159/000492128
Costanzo M, Guercio G, Bailez MM, Ongaro L, Belgorosky, A. Desarrollo sexual diferente. Programa Nacional de Actualización Pediátrica a distancia (PRONAP). Módulo 1, 2018. 1ª Edición. Ciudad Autónoma de Buenos Aires: Sociedad Argentina de Pediatría.172 páginas: 28 x 20 cms.; pag 17-47. I.S.B.N.: 978-987-3715-23-5
Costanzo PR, Pacenza NA, Aszpis SM, Suárez SM, Pragier UM, Stewart Usher JG, Vásquez Cayoja M, Iturrieta S, Gottlieb SE, Rey RA, Knoblovits P. Clinical and Etiological Aspects of Gynecomastia in Adult Males: A Multicenter Study. BioMed Research International 2018; 2018, Article ID 8364824, 1-7, doi: 10.1155/2018/8364824
Del Rey G, Martinez AS, Keselman A, Venara M, Copelli S, Boywit A, CasaliB, De Bellis R, Heinrich JJ, Coco R. Síndrome de Turner Efecto de variaciones cromosómicas constitucional en la expresión del fenotipo. Revista del Hospital de Niños (Buenos Aires). 2018; 60, 230-235
Edelsztein NY, Racine C, Di Clemente N, Schteingart HF, Rey RA. Androgens downregulate anti-Müllerian hormone promoter activity in the Sertoli cell through the androgen receptor and intact SF1 sites.Biology of Reproduction. 2018; 99:1302-1312. doi: 10.1093/biolre/ioy152
Ferraris T, Toselli L, Udaquiola J, Vagni R, Coccia P, Alonso G, Lobos P, Moldes J, Liberto D. Total parathyroidectomy, autoimplant and cryopreservation for the treatment of hyperparathyroidism of renal origin in children and young adults. Cirugía pediátrica 2018; 31(1):39-45.
Freire A, Arcari A, Gryngarten M, Ropelato MG. Síndrome de Ovario Poliquístico (SOP) en la Adolescencia. Revista del Hospital de Niños (Buenos Aires). 2018:60 (270); 258-263.
Freire AV, Grinspon RP, Rey RA. Importance of serum testicular protein hormone measurement in the assessment of Disorders of Sex Development. Sexual Development. 2018; 12:30-40; doi: 10.1159/000479572
Gil S, Aziz M, Adragna M, Monteverde M, Belgorosky A. Near-adult height in male kidney transplant recipients started on growth hormone treatment in late puberty. Pediatric Nephrology. 2018; 33(1):175-180. doi:10.1007/s00467-017-3777-2
Grinspon RP, Urrutia M, Rey RA. Male central hypogonadism in paediatrics – the relevance of follicle-stimulating hormone and Sertoli cell markers. European Endocrinology.2018; 14:67-71. doi: 10.17925/EE.2018.14.2.67
Grinspon R, Bedecarrás P, Gottlieb S, Rey RA. Afectación de la función testicular en niños con criptorquidia. Revista del Hospital de Niños (Buenos Aires) 2018; 60: 214-222.
Grinspon RP, Gottlieb S, Bedecarrás P, Rey RA. Anti-Müllerian Hormone andTesticular Function in Prepubertal Boys With Cryptorchidism.Frontiers in Endocrinology. 2018; 9:182. doi: 10.3389/fendo.2018.00182.
Vaiani E, Morales C, Soto F, Blanco Y, Rugilo C, Ciaccio M, Belgorosky A. Presentación atípica de una prolactinoma gigante en un adolescente de 15 años [Atypical presentation of a giant prolactinoma in a 15-year-old boy]. Archivos Argentinos de Pediatria. 2018; 116(2):e325-e330. doi:10.5546/aap.2018.e325
Zaidman V, Lazzati JM, Maceiras M, Herzovich V, Pelanda M, Ribas A, Belgorosky A, Chaler EA. Rational approach to the primary evaluation of thyroid disease in paediatrics.: Full thyroid profile vs. Thyroid-stimulating hormone and free thyroxine only. Clinical chemistry and laboratory medicine. 2018 May 24; 56(6):e144-e146. doi: 10.1515/cclm-2017-0962
Aliberti P, Perez Garrido N, Marino R, Ramirez P, Solari AJ, Sciurano R,Costanzo M, Guercio G, Warman DM, Bailez M, Baquedano MS, Rivarola MA, Belgorosky A, Berensztein E. Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty. Sexual Development. 2017; 11(5-6):225-237. doi: 10.1159/000486089.
Ballerini MG, Braslavsky D, Scaglia P, Keselman A, Rodríguez M, Martínez A, Freire A, Domené H, Jasper H, Bergadá I, Ropelato MG. Circulating IGF-I, IGFBP-3 and the IGF-I/IGFBP-3 Molar Ratio Concentration and Height Outcome in Prepubertal Short Children on rhGH Treatment over Two Years of Therapy.Hormone research in pediatrics. 2017; 88(5):354-363. doi: 10.1159/00047969
Baquedano M, Perez Garrido N, Goñi J, Saraco N, Aliberti P, Berensztein E,Rivarola MA, Belgorosky A. DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of humanadrenal cortex. Molecular and cellular endocrinology. 2017 Feb 5;441:46-54. doi:10.1016/j.mce.2016.09.024.
Bergadá I, Keselman A, Rey R. Juan Jorge Heinrich, MD, PhD, 1937-2016. Hormone research in pediatrics. 2017; 87:423-424. doi: 10.1159/000476013.
Bergadá I, Rey R. In Memoriam: Juan Jorge Heinrich, MD, PhD (1937-2016). Pediatric Endocrinology Reviews 2017; 14:273. doi:10.17458/per.vol14.2017.RR.IM.heinrich.
Comité Nacional de Endocrinología. Restricción del crecimiento intrauterino: perspectiva endocrinológica. Archivos Argentinos de Pediatria. 2017;115 Supl 3: s63-s67. doi: 10.5546/aap.2017.s63
Dujovne N, Gazek N, Maceiras M, Lazzatti JM, Felipe L, Ayarzabal V, Belgorosky A., Herzovich V. Hipertiroidismo en la infancia y adolescencia: prevalencia de signos y síntomas y factores pronósticos de la respuesta al tratamiento farmacológico. Revista Argentina de Endocrinología y Metabolismo. 2017; 54: 31
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Fraquelli L, Lorusso AM, Zubizarreta P, Angeletti L, Botana Rodríguez C, Burgos ME, Califano P, Ciaccio M, Conde F, Guitte, M, Onoratelli M, Pabón N., Peralta L, Rebollo M, Riu C, Romero J, Sánchez La Rosa C, Villar MV, Santos S, Vassallo JC, Rodríguez S, Rodríguez J. El niño con cáncer / Garrahan Pediatrics Series. The child with cáncer. Buenos Aires; Médica Panamericana; 2017. 149 p. Series de Pediatría Garrahan.
Forclaz MV, Moratto E, Pennisi A, Falco S, OlsenG, Rodríguez P, Papazian R, Bergadá I. Niveles de cortisol en la saliva y séricos en recién nacidos. Archivos Argentinos de Pediatria. 2017; 115 (3):262-266. doi.org/10.5546/aap.2017.262
Grinspon R, Braslavsky D, Chiesa A, Papendieck P, Pennisi P, Clement F, Vieites A, Keselman A, Gryngarten M, Freire A, Ballerini, MG, Rey R, Bergadá I, Domené H. Meeting Reports: 2016 Annual Meeting of the Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP) Buenos Aires, Argentina (November 8-11, 2016), Selected Highlights. Pediatric endocrinology reviews. 2017;14(4):390-401. doi:10.17458/per.vol14.2017.GBC.MR.SLEP.
Guntsche Z, Saravi F, Pomilio J, Miorin C, Breyer F, Cestino L. Estimación del riesgo cardiometabolico en niños obesos mendocinos mediante la detección precoz de insulinoresistencia con marcadores antropométricos, densitometricos y bioquímicos. Bianuario de Investigación 2017/2018 – DICyT (Dirección de Investigación, Ciencia y Técnica. Ministerio de Salud, Desarrolló Social y Deportes, Gobierno de Mendoza). 2019; 47-56.
Herzovich V, Dujovne N, Gazek N, Maceiras M. Hipertiroidismo Autoinmune en Niños y Adolescentes. Revista Autoinmunidad 2017; 2 (2). ISSN :2545-6032
Khattab A, Haider S, KumarA, Dhawan S, Alam D, Romero R, Burns J, Li D, EstaticoJ, Rahi S, Fatima S, Alzahrani AS, Hafez M, MusaN, Azar M, Ben Charfeddine I, Bilharinho de Mendonca B, Belgorosky A, Dumic K, Dumic M, Aisenberg J, Kandemir N, Cheng T, Kuhnle-Krahl U,Cappa M, Holterhus PM, Nour M, Holtzman A, Sun L, Zaidi M, Yuen T,New M. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Proceedings of the National Academy of Sciences of the United States of America. 2017;114(10):E1933-E1940. doi:10.1073/pnas.1621082114
Kranenburg LJC, Reerds STH, Cools M, Alderson J, Muscarella M, Magrite E, Kuiper M, Abdelgaffar S, Balsamo A, Brauner R, Chanoine JP, Deeb A, Fechner P, German A, Holterhus PM, Juul A, Mendonca BB, Neville K, Nordenstrom A, Oostdijk W, Rey RA, Rutter MM, Shah N, Luo X, Grijpink K, Drop SLS. Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal. Hormone research in pediatrics. 2017; 88:127-139. doi: 10.1159/000475992.
Martinez A, Pasqualini T, Bengolea V, Azaretzky M, Kuspiel F, Vaiani E, Campeni S, Pipman V, Suárez M. Función gonadal en niños y adolescentes nacidos con restricción del crecimiento intrauterino. Revista Argentina de Endocrinología y Metabolismo. 2017; 54: 196-203.
Mulli V, Pasqualini T. Alteraciones del ciclo menstrual. PRONAP Adolescencia. 2017
Ramaswamy S, Walker W, Aliberti P, Sethi R, Gary R, Marshall AS, Seyedmehdi Nourashrafeddin, Belgorosky A, Chandran UR, Hedger MP, Plant TM. The testicular transcriptome associated with spermatogonia differentiation initiated by gonadotrophin stimulation in the juvenile rhesus monkey (Macaca mulatta). Human Reproduction. 2017;32(10):2088-2100. doi:10.1093/humrep/dex270
Recabarren SE, Recabarren M, Sandoval D, Carrasco A., Padmanabhan V, Rey R, Richte HG, Perez Marin CC, Sir Petermann T, Rojas Garcia PP. Puberty arises with testicular alterations and defective AMH expression in rams prenatally exposed to testosterone. Domestic animal endocrinology. 2017; 61:100-107. doi: 10.1016/j.domaniend.2017.06.004.
Rey RA. Commentary on sperm DNA fragmentation testing clinical guideline. Translational andrology and urology.2017; 6(S4):S522-S524. doi: 10.21037/tau.2017.03.19 (commentary)
Scaglia PA, Keselman AC, Braslavsky D, Martucci LC, Karabatas LM, Domené S, Gutiérrez ML, Ballerini MG, Ropelato MG, Spinola-Castro A, Siviero-Miachon AA, Tartuci JS, Rodríguez Azrak S, Rey RA, Jasper HG, Bergadá I, Domené HM. Characterization of Four Latin-American Families Confirms Previous Findings and Reveals Novel Features of Acid-labile Subunit (ALS) Deficiency. Clinical Endocrinology. 2017; 87:300-311. doi: 10.1111/cen.13361.
Vaiani E, Malossetti C, Vega LM, Zubizarreta P, Braier J, Belgorosky A. Predictor Variables of Developing Anterior Pituitary Deficiencies in a Group of Paediatric Patients with Central Diabetes Insipidus and Langerhans Cell Histiocytosis. Hormone Research in Paediatrics. 2017;87(1):51-57. doi:10.1159/000452996
Arcari A, Gryngarten M, Freire A, Ballerini MG, Ropelato MG, Bergadá I, Escobar ME. Body mass Index in Girls with Idiopathic Central Precocious Puberty during and after Treatment with GnRH Analogues. International Journal of Pediatric Endocrinology. 2016:15 doi: 10.1186/s13633-016-0033-7
Brunetto O. Anti-FGF23 antibody treatment in X Linked hypophosphatemic rickets: lights and shadows. Actual Osteología 2016; 12(3): 159-161
del Rey G. The role of the SHOX gene in the development of short stature: an overview of clinical and molecular evaluation. Current Trends in Endocrinology. 2016; 8:65-68.
DujovneN, Gazek N, Herzovich V. Tumoraciones cervicales en pediatría. Diagnósticos diferenciales. Revista de la Sociedad Argentina de Ginecología Infantil Juvenil. 2016; 23 (2): 96-10
Edelsztein NY, Grinspon RP, Schteingart HF, ReyRA. Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis. International Journal of Pediatric Endocrinology 2016; 2016:20. doi: 10.1186/s13633-016-0038-2
Fideleff HL, Boquete HR, Súarez MG, Azaretzky M. Burden of Growth Hormone Deficiency and Excess in Children. Progress in molecular biology and translational science.2016; 138:143-166. doi: 10.1016/bs.pmbts.2015.10.009
Fideleff HL, Fideleff G, Boquete HR, Suárez M, Azaretzky M. Male-female differences in 6-sulfatoxymelatonin excretion in hypopituitary patients. Archives of endocrinology and metabolism. 2016;60(3):223-230. doi:10.1590/2359-3997000000153
Figueroa Sobrero A, Evangelista P, Kovalskys I, Digon P, Lopez S, Scaiola E, Perez N., Dieuzeide G, Walz F, Mazza C. Cardio-metabolic risk factors in Argentine children. A comparative study. Diabetes & metabolic syndrome. 2016; 10 (1 Suppl 1): S103-S109. doi:10.1016/j.dsx.2015.10.003
FreireAV, Gryngarten MG, Ballerini MG. Arcari AJ, Escobar ME, Bergadá I, Ropelato MG. Assessment of Estradiol Response after Depot Triptorelin Administration in Girls with Central Precocious Puberty. Hormone research in pediatrics.2016; 85:58-64. doi: 10.1159/000442523
Freire A, Rubino C, Arcari A, Ballerini MG, Escobar de Lázzari ME, Gryngarten M, Ropelato MG. Alta frecuencia de insulinorresistencia en adolescentes con síndrome de ovario poliquístico (SOP) independientemente del peso corporal. Revista de la Sociedad de Ginecología Infanto Juvenil.2016; 23(3): 135-147.
Grinspon R, Habib C, Bedecarrás P, Gottlieb S, Rey RA.Compensatory function of the remaining testis is dissociated in boys and adolescents with monorchidism. European Journal of Endocrinology. 2016;174:399-407. doi: 10.1530/EJE-15-0938.
Grinspon R, Nevado J, Mori Alvarez ML, del Rey G, Castera R, Venara M, Chiesa A, Podestá M, Lapunzina P, Rey RA. 46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy.Clinical endocrinology (Oxford).2016;85:673-675. doi: 10.1111/cen.13126.
Grinspon R, Rey RA. Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects. Sexual Development. 2016; 10:1-11. doi: 10.1159/000445088
Herzovich V, Dujovne N, Gazek N. Hipertiroidismo debido a la Enfermedad de Graves en niños y adolescentes. Revista de la Sociedad Argentina de Ginecología Infantil Juvenil. 2016; 23(2): 92-95
Joo Turoni C, Chaila Z, Chahla R, Bazan de Casella MC, Peral de Bruno M. Vascular function in children with low birthweight and its relationship with early markers of cardiovascular risk. Hormone research in pediatrics.2016; 1-10.doi 10.1159/000354991.
Juanes M, Di Palma I, Ciaccio M, Marino R, Ramírez PC, Pérez Garrido N, Maceiras M, Lazzati JM, Rivarola MA, Belgorosky A. Two novel heterozygous missense variations within the GLI2 gene in two unrelated Argentine patients. Dos nuevas variantes heterocigotas en el gen GLI2 en dos pacientes argentinos no relacionados. Medicina (Buenos Aires). 2016; 76(4):213-218.
Lazzati JM, Zaidman V, MaceirasM, Belgorosky A, Chaler E. The use of a «gray zone» considering measurement uncertainty in pharmacological tests. The serum growth hormone stimulation test as an example. Clinical chemistry and laboratory medicine. 2016;54(11):e349-e351. doi:10.1515/cclm-2015-0954
Martucci LC, Gutiérrez ML, Karabatas LM, Scaglia PA, Rey RA, Domené HM, Jasper GJ, Domene S. Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies. Molecular and Cellular Endocrinology.2016;429:19-28. doi: 10.1016/j.mce.2016.03.031.
Pierre A, Racine C, Rey R, Fanchin R, Taieb J, Cohen-Tannoudji J, CarmilloP, Pepinsky RB, Cate RL, Di Clemente N. Most cleaved anti-Müllerian hormone binds its receptor in human follicular fluid but little is competent in serum. The Journal of clinical endocrinology and metabolism. 2016; 101:4618-4627. doi: 10.1210/jc.2016-1742.
ReyRA. Investigación traslacional en medicina. Revista del Hospital de Niños (Buenos Aires). 2016; 58: 142-148.
Ballerini MG, Chiesa A, Morelli C, Frusti M, Ropelato MG. Serum concentration of 17α-hydroxyprogesterone in children from birth to adolescence. Horm Res Paediatr 2014;81(2):118-25. doi:10.1159/000356906. Epub 2013 Dec 21. PubMed PMID: 24401679.
Baquedano S, Ciaccio M, Marino R, Perez Garrido N, Ramirez P, Maceiras M., Turjanski A, Defelipe L, Rivarola M, Belgorosky A. A Novel Missense Mutation in the HSD3β2 Gene, Underlying Nonsalt-Wasting Congenital Adrenal Hyperplasia. New Insight into the Structure-Function relationships of 3-hydroxysteroid dehidrogenase type II. J Clin Endocrinol Metab. Octubre 2014, ISNN Online 1945-7197, doi: 10.1210/jc.2014-2676.
Freire A, Ropelato MG, Ballerini MG, Acha O, Bergadá I, de Papendieck L, Chiesa A. Predicting hypocalcemia after thyroidectomy in children. Surgery. 2014. Jul; 156 (1):130-6. doi: 10.1016/j.surg.2014.02.016. Epub 2014 Feb 27. PubMed PMID: 24929763
Grinspon R, Loreti N, Braslavsky D, Bedecarrás P, Ambao V, Gottlieb S, Bergadá I, Campo S, Rey R. Utilidad de la hormona anti-mülleriana (AMH) y la inhibina B en el diagnóstico del hipogonadismo en el niño. Revista Venezolana de Endocrinología y Metabolismo 2014; 12: 76-88.
Grinspon RP, Loreti N, Braslavsky D, Valeri C, Schteingart H, Ballerini MG, Bedecarrás P, Ambao V, Gottlieb S, Ropelato MG, Bergadá I, Campo S, Rey R. Spreading the clinical window for diagnosing fetal-onset hypogonadism in boy. Frontiers in Endocrinology 2014; 5:51. doi: 10.3389/fendo.2014.00051.
Grinspon R, Rey R. When hormone defects cannot explain it: Malformative disorders of sex development. Birth Defects Res C Embryo Today 2014; 102: 359-373. doi: 10.1002/bdrc.21086.
Guercio G, Rey R. Fertility issues in the management of patients with Disorders of Sex Development. Endocrine Development 2014; 27:87-98. doi:10.1159/000363633.
Juanes M, Guercio G, Marino R, Berensztein E, Warman D, Ciaccio M, Gil S, Bailez M, Rivarola M, Belgorosky A. Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment. Clinical Endocrinology (2014), 1–8, julio 2014, ISSN: 0300-0664.
Juanes M, Marino R, Ciaccio M, Di Palma I, Ramirez P, Warman DM, De Dona V, CHaler E, Maceiras M, Rivarola M, Belgorosky A. Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency. Clinical Endocrinology, 2014 Apr;80(4):618-620.doi:10.1111/cen.12267.
Marino R, Perez Garrido N, Costanzo M, Guercio G, Juanes M, Rocco C, Ramirez P, Warman M, Ciaccio M, Pena G, Feyling JG, Miras M, Rivarola M, Belgorosky A, Saraco N. Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect. J Clin Endocrinol Metab 2014 Nov 21:jc20142967. [Epub ahead of print]
Rajagopal A., Braslavsky D., T Lu J., Kleppe S., Clément F., Cassinelli H., Liu D., Liern J., Vallejo G, Bergadá I, Gibbs R., Campeau P., Lee B. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. J Clin Endocrinol Metab 2014, doi: 10.1210/jc.2014-1517.
Rey R. Mini-puberty and true puberty: Differences in testicular function. Annales d’Endocrinologie 2014;75:58-63. doi:10.1016/j.ando.2014.03.001.
Rey R. Hormona antimülleriana: la hormona testicular fetal que mejor refleja la reserva ovárica adulta. Revista Médica de Rosario 2014;80:6-8 (editorial).
Rey R, Grinspon R, Gottlieb S, Pasqualini T, Knoblovits P, Aszpis S, Pacenza N, Stewart-Usher J, Bergadá I, Campo S. Hipogonadismo masculino: una clasificación ampliada basada en la fisiología endocrina del desarrollo. Revista Argentina de Andrología 2014; 23: 5-21.
Rey R, Picard JY, Josso N. Intérêt du dosage de l’hormone anti-müllérienne pour le diagnostic et la définition des anomalies de la différenciation sexuelle. MT Médecine de la Reproduction, Gynécologie Endocrinologie 2014; 16: 56-68. doi:10.1684/mte.2014.0504.
Rocha A, Iñiguez G, Godoy C, Gaete X, López P, Loreti N, Campo S, Rey R, Codner E. Testicular function during adolescence in boys with type 1 diabetes mellitus (T1D): absence of hypogonadism and differences in endocrine profile at the beginning and end of puberty. Pediatric Diabetes 2014; 15: 198-205.
Vaiani E, Maceiras M, Chaler E, Lazzatti J.M, Chiavero M., Novelle C., Rivarola M , Belgorosky A. Central Adrenal Insufficiency could not be confirmed by measurement of basal serum DHEAS levels in pubertal children. Hormone Research in Pediatrics, Septiembre 2014, DOI: 10.1159/000368318.
Alvarez-Nava F, Lanes R, Quintero JM, Miras M, Fideleff H, Mericq V, Marcano H, Zabala W, Soto M, Pardo T, Borjas L, Villalobos J, Gunczler P, Unanue N, Tkalenko N, Boyanofsky A, Silvano L, Franchioni L, Llano M, Fideleff G, Azaretzky M, Suarez M. Effect of the parental origin of the X-chromosome on the clinical features, associated complications, the two-year-response to growth hormone (rhGH) and the biochemical profile in patients with Turner Syndrome. Int J Pediatr Endocrinol. 2013 Jun 4; (1): 10 doi: 10.1186/1687-9856
Ballerini MG, Domené HM, Scaglia P, Martínez A, Keselman A, Jasper HG, Ropelato MG. Association of serum components of the GH-IGFs-IGFBPs system with GHR-exon 3 polymorphism in normal and idiopathic short stature children. Growth Horm & IGF Res, 2013.
Dec, Vol.23(6):229-236, doi: 10.1016/j.ghir.2013.08.003. Epub 2013
Baquedano M, Guercio G, Marino R, Berensztein E, Costanzo M, Bailez M, Vaiani E, Maceiras M, Ramirez P, Chaler E, Rivarola M, Belgorosky A. Unique Dominant Negative Mutation in the N-terminal Mitochondrial Targeting Sequence of Star, Causing a Variant Form of Congenital Lipoid Adrenal Hyperplasia. J Clin Endocrinol Metab. 2013 Jan; 98(1):e153-61. doi: 10.1210/jc.2012-2865. epub 2012 nov 21. pmid: 23175692
Brugo Olmedo S, De Vincentiis S, De Martino E, Bedecarrás P, Blanco AM, Freire AV, Buffone M, Rey RA. Prediction of reproductive outcomes according to different serum anti-Müllerian hormone levels in females undergoing intracystoplasmic sperm injection. PLOS ONE 2013;8:e75685. DOI: 10.1371/journal.pone.0075685.
Catoira NP, Verna C, Boquete HR, Suárez M, Fideleff HL. Síndrome de Turner y Acromegalia: ¿Causalidad o coincidencia? Caso Clínico. Rev Argent Endocrinol Metab 2013, 50:30-34.
Citterio C, Machiavelli G, Miras M, Gruñeiro-Papendieck L, Lachlan K, Sobrero G, Chiesa A, Walker J, Muñoz L, Testa G, Belforte F S, González-Sarmiento R, Rivolta CM, Targovnik H. New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism. Molecular and Cellular Endocrinology 2013, Vol 365(2): 277-291, doi:10.1016.
Clayton P, Chatelain P, Tato L, Yoo H W, Ambler G, Belgorosky A, Quinteiro S, Deal C, Stevens A, Raelson J, Croteau P, Destenaves B, Olivier C. A pharmacogenomic approach to the treatment of children with growth hormone deficiency or Turner síndrome. European Journal of Endocrinology, 2013;169 (3) 277-89, doi: 10.1530/EJE-13-0069. , doi: 10.1530/EJE-13-0069
Chaler EA, Ballerini G, Lazzati JM, Maceiras M, Frusti M, Bergada I, Rivarola MA, Belgorosky A, Ropelato G. Cut-off values of serum growth hormone (GH) in pharmacological stimulation tests (PhT) evaluated in short-statured children using a chemiluminescent immunometric assay (ICMA) calibrated with the International Recombinant Human GH Standard 98/574. Clin Chem Lab Med. 2013 May;51(5):e95-7.
Chiesa A, Prieto L, Mendez V, Papendieck P, Calcagno ML, Gruñeiro-Papendieck L. Prevalence and Etiology of Congenital Hypothyroidism Detected through an Argentine Neonatal Screening Program (1997-2010). Horm Res Paediatr 2013;80:185-192 (DOI:10.1159/000354409)
Domené HM, Scaglia PA, Martínez AS, Keselman AC, Karabatas LM, Pipman VR, Bengolea SV, Guida MC, Ropelato MG, Ballerini MG, Lescano EM, Blanco MA, Heinrich JJ, Rey RA, Jasper HG. Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children:Impact on Height and the IGF System. Horm Res Paediatr 2013;80(6):413-23. doi: 10.1159/000355412. Epub 2013 Dec 6.
Escobar de Lázzari M E, Gryngarten M, Ropelato M G, Arcari A, Ballerini MG, Freire A, Boulgourdjian E M. Pubertad precoz en niñas. Separata Montpellier 2013. Vol.21, N° 1 ISSN 1515-3878.
Freire AV, Escobar ME, Gryngarten MG, Arcari AJ, Ballerini MG, Bergadá I, Ropelato MG. High diagnostic accuracy of subcutaneous Triptorelin test compared with GnRH test for diagnosing central precocious puberty in girls. Clin Endocrinol (Oxf). 2013 Mar;78(3):398-404. doi: 10.1111/j.1365-2265.2012.04517.x. PMID: 22845185
Gil S., Vaiani E., Guercio G, Ciaccio M, Turconi A, Delgado N, Rivarola M, Belgorosky A. Effectiveness of rhGH treatment on Final Heigh of Renal-Transplant Recipients in Childhood. Pediatr Nephrol. 2012 Jun;27(6):1005-9. doi:10.1007
Grinspon RP, Andreone L, Bedecarrás P, Ropelato MG, Rey RA, Campo SM, Bergadá I. Male Central Precocious Puberty: Serum Profile of Anti-Müllerian Hormone and Inhibin B before, during, and after Treatment with GnRH Analogue. International Journal of Endocrinology,2013; Volume 2013, Article ID 823064, 6 pages, doi:10.1155/2013/823064.
Hernández MI, Martínez-Aguayo A, Cavada G, Peña V, Trejo L, Avila A, Salazar T, Asenjo S, Iñiguez G, Rey R, Mericq V. Accelerated early pubertal progression, ovarian morphology, and ovarian function in prospectively followed low birth weight (LBW) girls. Journal of Pediatric Endocrinology & Metabolism 2013; 26:223-230.
Joo Turoni C, Marañón RO, Felipe V, Bruno ME, Negrete A, Salas N, Bazán de Casella MC, Peral de Bruno M. Arterial stiffness and endothelial function in obese children and adolescents and its relationship with cardiovascular risk factors. Horm Res Paediatr. 2013;80(4):281-6.doi:10.1159/000354991. Epub2013 Sep 19.
Josso N, Rey RA, Picard JY. Anti-Müllerian Hormone: A Valuable Addition to the Toolbox of the Pediatric Endocrinologist. International Journal of Endocrinology 2013; Article ID 674105, 12 pages, 2013. doi:10.1155/2013/674105.
Juanes M, Marino R, Ciaccio M, Di Palma I, Ramirez P, Warman DM, De Dona V, Chaler E, Maceiras M, Rivarola M, Belgorosky A. Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency. Clinical Endocrinology 2013, Jun 22. doi:10.1111/ cen.12267.
Rey RA, Bedecarrás P, Brugo-Olmedo S, De Vincentiis S, Calamera P, Blanco AM, Grinspon R, Freire AV, Buffone M. Hormona anti-Mülleriana (AMH) como herramienta diagnóstica en la mujer. Revista SAEGRE 2013;20: 12-25.
Rey R, Grinspon R. Anomalías del desarrollo sexual. In: Paris Mancilla E, Sánchez I, Beltramino D, Copto García A, eds. Meneghello: Tratado de Pediatría, 6ª edición. Ed. Médica Panamericana, 2013: 1852-1859.
Rey RA, Grinspon RP, Gottlieb S, Pasqualini T, Knoblovits P, Aszpis S, Pacenza N, Stewart-Usher J, Bergadá I, Campo SM. Male hypogonadism: an extended classification based on a developmental, endocrine physiology-based approach. Andrology 2013; 1: 3-16.
Rey R, Josso N. Sexual Differentiation. In: DeGroot L, ed. Endotext.org; New M, Series ed., Pediatric Endocrinology, Chapter 7. 8 February 2013.
http://www.endotext.org/pediatrics/pediatrics7/pediatricsframe7.htm. published by MDTEXT. COM, Inc., S. Dartmouth, MA, USA.
Rocha A, Iñiguez G, Godoy C, Gaete X, López P, Loreti N, Campo S, Rey RA, Codner E. Testicular function during adolescence in boys with type1 diabetes mellitus (T1D): absence of hypogonadism and differences in endocrine profile at the beginning and end of puberty. Pediatric Diabetes 2013, online: 30 Sep 2013. DOI: 101111
Rojas-García PP, Recabarren MP, Sir-Petermann T, Rey R, Palma S, Carrasco A, Perez-Marin CC, Padmanabhan V, Recabarren SE. Altered testicular development as a consequence of increase number of Sertoli cell in male lambs exposed prenatally to excess testosterone. Endocrine 2013; 43:705-713.
Valeri C, Schteingart HF, Rey RA. The prepubertal testis: biomarkers and functions. Current Opinion in Endocrinology and Diabetes 2013; 20:224-233.
Wu Y, Sun H, Basta-Pljakic J, Cardoso L, Kennedy OD, Jasper H, Domené H, Karabatas L, Guida C, Schaffler MB, Rosen CJ, and Yakar S. Serum IGF-1 is insufficient to restore skeletal size in the total absence of the growth hormone receptor. Journal of Bone and Mineral Research, ISSN 1523-4 American Society for Bone and Mineral Research,Wiley-Blackwell.Jul;28(7):1575-86.doi: 10.1002/jbmr.1920. Hoboken, New Jersey, USA, 2013.
Zacharin M, Chanoine JP, Cassorla F, Brink S, Hanas R, Fideleff HL, Oduwole A, Shah N, Hochberg Z. Promoting excellence in the care of pediatric endocrine diseases in the developing world. l 70 Global Pediatric Endocrinology and Diabetes Active Members. Pediatrics, 2013; 131(2): 573-578.
Zuccardi L, Bou-Khair RM, Díaz Saubidet I, Valverde S, Gryngarten M, Arcari A, Escobar de Lázzari ME, Albamonte I, Albamonte M. “Criopreservación de tejido ovárico para preservar la fertilidad en pacientes oncológicas en etapa infanto-juvenil: experiencia inicial”. Revista de la Sociedad Argentina de Ginecología Infanto Juvenil. Vol 20(1); 2013: 6-11.