MON-060 P-450 Oxidoreductase Deficiency with Antley Bixler Phenotype: A Novel Mutation

Introduction We present first case of 46 XY Disorder of Sex Development (DSD) from India due to P-450 Oxidoreductase Deficiency with Novel variant (p.Ala541Thr) in a heterozygous state. Case Discussion 6 months old boy presented with ambiguous genitalia since birth. No history of neonatal crisis, fa...

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Detalles Bibliográficos
Publicado en:J Endocr Soc
Main Authors: Kumar, Anshul, Mathur, Sandeep Kumar, Sharma, Balram, Purwar, Naincy, sharma, Himanshu, Saran, Sanjay
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2020
Assuntos:
Pediatric Endocrinology
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208265/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.429
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