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Abstract |
A Girl with 45,X/46,XX Turner Syndrome and Salt Wasting Form of Congenital Adrenal Hyperplasia Due to Regulatory Changes |
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 suffering from both 45,X/46,XX Turner’s syndrome and salt wasting (SW) form of CAH.
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