Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia

We present a family with 2 members who received long-term steroid treatment for presumed classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until molecular testing revealed nonclassic CAH, not necessarily requiring treatment. A 17-year-old male presented to our clinic on...

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Detalles Bibliográficos
Autores principales: Nasir, Hamza, Ali, Syed Ibaad, Haque, Naeem, Grebe, Stefan K., Kirmani, Salman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177667/
https://www.ncbi.nlm.nih.gov/pubmed/30286573
http://dx.doi.org/10.6065/apem.2018.23.3.158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177667/
https://www.ncbi.nlm.nih.gov/pubmed/30286573
http://dx.doi.org/10.6065/apem.2018.23.3.158

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