Endocrinology Medical News about Adrenal Hypoplasia

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A Case of X-Linked Adrenal Hypoplasia Congenita, Central Precocious Puberty and Absence of the DAX-1 Gene: Implications for Pubertal Regulation
Hormone Research, 04/08/09

Loke KY et al. - This is the first report of X-linked AHC, central precocious puberty in the absence of the DAX-1 gene. The fact that a 'loss of function' DAX-1 mutation can be associated with hypogonadotropic hypogonadism, precocious and normal puberty, suggests that DAX-1 is but one of several transcription factors which regulate puberty, and provides further evidence that other transcription factors may interact with DAX-1 and influence gonadal regulation in a complex, but hierarchical fashion.

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