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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2021
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| Materias: | |
| 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 |