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

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% 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, the classic 21-hydroxylase deficiency (salt-wasting type). The patient presented with ambiguous genitalia and salt wasting. The karyotyping was that of a normal female. There were elevated levels of serum 17-hydroxy progesterone, adrenocorticotropic hormone, rennin, and rostenedione and testosterone. Also, there were hyperkalaemia 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.