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

• Główni autorzy: Hamza Nasir (Autor), Syed Ibaad Ali (Autor), Naeem Haque (Autor), Stefan K. Grebe (Autor), Salman Kirmani (Autor)
• Format: Książka
• Wydane: Korean Society of Pediatric Endocrinology, 2018-09-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

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...