SAT-297 Mutation in SRY Gene Presenting as Syndromic 46XY Disorder of Sexual Differentiation (DSD)

Introduction Mutations in the SRY gene presenting as sex reversal is rare and not associated with problems in other organ systems. We report a case of a 46 XY adolescent with history of cleft lip and palate, phenotypically female, diagnosed with a mutation in the SRY gene causing sex reversal. Clini...

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Bibliographic Details
Published in:J Endocr Soc
Main Authors: Adhikari, Amita, Taha, Doris, Senguttuvan, Rajan, Lakshmanan, Yegappan
Format: Artigo
Language:Inglês
Published: Endocrine Society 2019
Subjects:
Pediatric Endocrinology
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552224/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SAT-297
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