Novel Genotype in Two Siblings with 5-α-reductase 2 Deficiency: Different Clinical Course due to the Time of Diagnosis

Steroid 5-α-reductase-2 (5-ARD) deficiency is a result of mutations of the SRD5A2 gene. It causes the disorder of sexual differentiation (DSD) in 46,XY individuals with a variable genital phenotype. We present two siblings with female external genitalia at birth and bilateral inguinal testes, raised...

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Detalles Bibliográficos
Autores principales: Kocova, M, Plaseska-Karanfilska, D, Noveski, P, Kuzmanovska, M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956631/
https://www.ncbi.nlm.nih.gov/pubmed/31942420
http://dx.doi.org/10.2478/bjmg-2019-0022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6956631/
https://www.ncbi.nlm.nih.gov/pubmed/31942420
http://dx.doi.org/10.2478/bjmg-2019-0022

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