Three cases of congenital adrenal hypoplasia with novel mutations in the (NROB1) DAX-1 gene

Wheeler, B.; George, P. M.; MacKenzie, K.; Hunt, P.; Potter, H. C.; Florkowski, C. M.
November 2008
Annals of Clinical Biochemistry;Nov2008, Vol. 45 Issue 6, p606
Academic Journal
Case Study
Abnormalities in the DAX-1 gene (dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome) are a wellrecognized cause of congenital adrenal hypoplasia. DAX-1 is expressed in the adrenal cortex, gonads, hypothalamus and anterior pituitary, which gives rise to the clinical features of this deletion. Presentations are varied but salt-wasting and/or hypoglycaemia are the most common in an infant, with late onset of hypogonadotrophic hypogonadism. Over 80 different mutations in this gene have been identified. We present three unrelated cases with variable clinical presentations, all with novel mutations in the DAX-1 gene.


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