Annals of Clinical Biochemistry > Volume 45, Number 6 > Pp. 606-609

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Case Reports

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

B Wheeler¹, P M George², K MacKenzie¹, P Hunt³, H C Potter² and C M Florkowski²

¹ Paediatric Endocrinology, Department of Paediatrics, Christchurch Hospital; ² Clinical Biochemistry, Canterbury Health Laboratories; ³ Department of Endocrinology, Christchurch Hospital, Canterbury, New Zealand

Corresponding author: Dr Benjamin John Wheeler. Email: benwheeler51{at}hotmail.com

Abnormalities in the DAX-1 gene (dosage-sensitive sex reversal–adrenal hypoplasia gene on the X chromosome) are a well-recognized 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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