Article
A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes.
Clinical laboratory - 1 Jan 2012
Rabbani Bahareh, Mahdieh Nejat, Sayarifar Fatemeh, Ashtiani Mohammad Taghi Haghi, New Maria, Parsa Alan, Akbari Mohammad Taghi, Rabbani Ali
Abstract excerpt
The incidence of Congenital Adrenal Hyperplasia (CAH) is 1:10,000 - 16,000 worldwide, of which 90% occurs in the CYP21A2 gene coding for steroid 21-hydroxylase. On the other hand, Turner's syndrome, with an incidence of 1:2500, is a form of gonadal dysgenesis which leads to early ovarian failure and other phenotypic changes such as webbed neck, widely-spaced nipples and short stature. Here, we present a girl...
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