ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

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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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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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