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

Ann Clin Biochem 2008;45:606-609
doi:10.1258/acb.2008.008038
© 2008 Association for Clinical Biochemistry

 

This Article

Figures Only

Full Text

Full Text (PDF)


Alert me when this article is cited

Alert me if a correction is posted
Services

Email this article to a friend

Similar articles in this journal


Similar articles in PubMed

Alert me to new issues of the journal

Download to citation manager

Google Scholar

Articles by Wheeler, B

Articles by Florkowski, C M
PubMed

PubMed Citation
Social Bookmarking

What’s this?

Case Reports


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-1gene.

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What’s this?