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ey0019.6-10 | Basic and Genetic Research of DSD | ESPEYB19

6.10. Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46, XY differences of sex development

NL Gomes , RL Batista , MY Nishi , AM Lerario , TE Silva , Moraes Narcizo A de , AFF Benedetti , Assis Funari MF de , Junior JA Faria , DR Moraes , LML Quintao , LR Montenegro , MTM Ferrari , AA Jorge , IJP Arnhold , EMF Costa , S Domenice , BB Mendonca

J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1797-e1806. PMID: 35134971, doi: 10.1210/clinem/dgac064. Brief Summary: This retrospective clinical research reports the clinical/biochemical, radiological, and genetic findings of a large cohort of 209 non-syndromic 46,XY DSD patients from a single tertiary center collected over the last 25 years in Brazil. A molecular diagnosis was achieved in 59....

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ey0018.7-2 | Clinical Guidance | ESPEYB18

7.2. Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations

CE Seraphim , APM Canton , L Montenegro , MR Piovesan , DB Macedo , M Cunha , A Guimaraes , CO Ramos , AFF Benedetti , A de Castro Leal , PC Gagliardi , SR Antonini , M Gryngarten , AJ Arcari , AP Abreu , UB Kaiser , L Soriano-Guillen , A Escribano- Munoz , R Corripio , JI Labarta , L Travieso-Suarez , NV Ortiz-Cabrera , J Argente , BB Mendonca , VN Brito , AC Latronico

J Clin Endocrinol Metab. 2021 Mar 25;106(4):10411050. 10.1210/clinem/dgaa955. PMID: 33383582. https://academic.oup.com/jcem/article-abstract/106/4/1041/6056669?redirectedFrom=fulltextIn brief: This paper describes the clinical and hormonal features of a large cohort of patients wit...

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ESPE Yearbook of Paediatric Endocrinology

6.10. Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46, XY differences of sex development

7.2. Genotype-phenotype correlations in central precocious puberty caused by MKRN3 mutations

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