Congenital adrenal hyperplasia (CAH) consists of a group of autosomal recessive disorders; each of which is associated with the deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. The clinical features of each type of congenital adrenal hyperplasia depend on the degree of cortisol deficiency and/or aldosterone deficiency. These features in several cases demonstrate the buildup of precursor adrenocortical hormones, which produces anomalies like hypertension or virilization when present in supraphysiologic concentrations.
CAH due to 17-Alpha-hydroxylase deficiency ia associated with mutations in CYP17A1 gene.
Mula-Abed et al. (2014) described the first reported case of congenital adrenal hyperplasia (CAH) due to a combined 17 alpha hydroxylase/17,20 lyase deficiency from Oman. The patient was a 22-year old Omani woman who had been diagnosed with hypertension at 10-years of age. At the time of evaluation, although she was on three antihypertensive medications, the blood pressure was not controlled. She had primary amenorrhea and features of sexual infantilism. Upon examination, she was found to have no secondary sexual characteristics, female type external genitalia, and no goiter. Diagnostic laproscopy and later radio-imaging did not reveal the presence of uterus, ovaries or testicles. Endocrine results, particularly a high FSH and LH with low serum estradiol were consistent with a diagnosis of hypergonadotrophic hypogonadism. In addition, she was found to have low levels of corrtisol and its precursors, low adrenal androgens, high mineralocorticoids precursors, and high ACTH. Karyotype analysis showed a normal male karyotype. The observations were consistent with a 17-alpha Hydroxylase Deficiency. This was confirmed by sequencing the CYP17A1 gene, which revealed homozygous mutations. The patient was started and maintained on steroid therapy, and the antihypertensive drugs were slowly withdrawn.