Phenotype variation among siblings with 5-alpha reductase deficiency: A case series

Steroid 5α-reductase deficiency (5ARD) is a rare autosomal recessive disorder caused by mutation in the 5α-reductase type 2 gene (SRD5A2). 5ARD results in the impaired conversion of testosterone (T) to dihydrotestosterone (DHT) and is characterized by undervirilization in 46XY individuals. We report...

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Detalles Bibliográficos
Autores principales: Reddy, D. Sandeep, Danda, Vijay Sheker Reddy, Paidipally, Srinivas Rao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173944/
https://www.ncbi.nlm.nih.gov/pubmed/34103805
http://dx.doi.org/10.4103/iju.IJU_340_20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173944/
https://www.ncbi.nlm.nih.gov/pubmed/34103805
http://dx.doi.org/10.4103/iju.IJU_340_20

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