21 beta hydroxysteroid dehydrogenase

The fetal adrenal cortex lacks expression of the enzyme early on, thus mineralocorticoids (. aldosterone ) and glucocorticoids (. cortisol ) cannot be synthesized. This is significant because cortisol induces type II pneumocytes of the lungs to synthesize and secrete pulmonary surfactant ; without pulmonary surfactant to reduce the alveolar surface tension , premature neonates may die of neonatal respiratory distress syndrome . If delivery is unavoidable (. because of placental abruption , or pre-eclampsia / HELLP syndrome ), then glucocorticoids (. cortisol) can be administered.

Stikkelbroeck et al. (2001) investigated the prevalence of testicular tumors in 17 adolescent and adult male patients with CAH aged 16 to 40 years. In 16 of 17 patients, one or more testicular tumors ranging in maximal length from to cm were found on ultrasonography. In 6 patients, the testicular tumors were palpable. Undertreatment, defined as the presence of a salivary androstenedione level above the upper reference morning level, was found in 5 of 17 patients at the time of investigation. The other 12 patients were treated adequately or even overtreated at the time of investigation. Nevertheless, 11 of these 12 patients showed testicular tumors on ultrasonography. Tumor size was significantly larger in patients who were heterozygous or homozygous for deletion or conversion of the CYP21 gene than in patients who did not have this genotype. Impairment of Leydig cell function as manifested by decreased plasma levels of testosterone was found in 6 of 17 patients. Semen analysis in 11 patients revealed azoospermia in 3 patients and poor semen quality in 4 patients. The authors concluded that, when carefully sought for, testicular adrenal rest tumors are frequently present in adolescent and adult males with CAH and are often accompanied by impaired spermatogenesis and Leydig cell failure.

21 beta hydroxysteroid dehydrogenase

21 beta hydroxysteroid dehydrogenase

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