Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology BES 2019

Brighton, United Kingdom
11 Nov 2019 - 13 Nov 2019

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Come and exchange knowledge, share experiences and strengthen collaborations across our global community of endocrinologists!


Updates on DSD genetics

ea0065mte3 | Updates on DSD genetics | SFEBES2019

Update on DSD genetics

Achermann John

Since the discovery of SRY as the main testis-determining gene more than 25 years ago, at least 30 other single gene conditions have been identified that can result in differences/disorders in sex development (DSD). Some of these are associated with ‘classic’ steroidogenic blocks or related conditions such as CAH, whereas others are associated with alterations in gonad determination and development. Reaching a specific genetic diagnosis can have implications...