Clinical, Biochemical, and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
December 2024
in “
Journal of Clinical Research in Pediatric Endocrinology
”
congenital adrenal hyperplasia 21-hydroxylase deficiency CYP21A2 cortisol synthesis virilization salt-wasting crisis simple virilizing form premature pubic hair non-classical 21OHD severe acne hirsutism androgenic alopecia 17-hydroxyprogesterone ACTH stimulation test CAH 21OHD adrenal hyperplasia cortisol pubic hair acne hair loss alopecia progesterone ACTH test
TLDR 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder affecting cortisol synthesis, with 90%-99% of CAH cases attributed to mutations in CYP21A2. The condition presents a continuous phenotype, historically categorized into classical and non-classical forms. In the classical form, females may experience virilization, and neonates face life-threatening salt-wasting crises if untreated. The simple virilizing form leads to accelerated growth and premature pubic hair in children. Non-classical 21OHD in female adolescents can cause severe acne, hirsutism, androgenic alopecia, and menstrual issues. Diagnosis involves clinical, biochemical, and genetic evaluations, with 17-hydroxyprogesterone levels above 1000 ng/dL indicating 21OHD. Borderline cases require an ACTH stimulation test, and genotyping is advised for suspicious profiles or incomplete tests. Post-diagnosis, determining parental carrier status aids in assessing recurrence risk in future pregnancies.
