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Steroid 21-hydroxylase Deficiency in a Newborn Female with Ambiguous Genitalia in Upper Egypt

Journal Authors: 
DOI: 
10.7727/wimj.2016.144

ABSTRACT

Congenital adrenal hyperplasia "CAH" is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of cases and can have diverse manifestations: from the salt-wasting to the non-classical form due to a highly variable genetic mutation. We report a female infant aged two months, from Nag-Hammadi- Upper Egypt, whose presentation and laboratory abnormalities were consistent with CAH- classic 21-hydroxylase deficiency (salt wasting type). The patient presented with ambiguous genitalia and salt wasting. The karyotyping was that of normal female. There were elevated levels of serum 17-hydroxy progesterone, ACTH, rennin, androstenedione, and testosterone. Also, there was hyperkalemia and hyponatremia. We conclude that CAH to be keep in mind in the differential diagnosis of any newborn female with ambiguous genitalia with normal karyotyping and we call for dried blood spot 17-hydroxyprogesterone assay to be included in the newborn screening program in Egypt.

Accepted: 
16 Jun, 2016
PDF Attachment: 
e-Published: 06 Jul, 2016

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Manuscripts that are Published Ahead of Print have been peer reviewed and accepted for publication by the Editorial Board of the West Indian Medical Journal. They may appear in their original format and may not be copy edited or formatted in the style guide of this Journal. While accepted manuscripts are not yet assigned a volume, issue or page numbers, they can be cited using the DOI and date of e-publication. See our Instructions for Authors on how to properly cite manuscripts at this stage. The contents of the manuscript may change before it is published in its final form. Manuscripts in this section will be removed once they have been issued to a volume and issue, but will still retain the DOI and date of e-publication.

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