X-linked adrenal hypoplasia and hypogonadotropic hypogonadism: multiple roles for the putative transcription factor DAX-1

in European Journal of Endocrinology
Author: Peter Kopp
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Adrenal hypoplasia congenita (AHC) is an inherited disorder that presents at different time points in childhood with adrenal insufficiency and severe saltwasting (1). Its eponym, AHC, frequently creates some confusion with CAH, congenital adrenal hyperplasia. Two distinct entities of AHC have been described: the X-linked form and the autosomal recessive form. In the X-linked variant, also referred to as the cytomegalic form, the fetal cortex is intact but the permanent zone of the adrenal cortex does not develop and is replaced by large vacuolated cells (2).

Clinically, affected boys suffering from X-linked AHC present with cortisol and mineralocorticoid deficiency but, in contrast to CAH, there are no signs of androgen excess. Moreover, there is no increase in steroid precursors in response to adrenocorticotropin (ACTH) stimulation. AHC is lethal if untreated. Once treatment with steroids allowed survival beyond childhood, it became apparent that one of the additional features of this syndrome

 

     European Society of Endocrinology

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