A Case of 21-Hydroxylase Deficiency in Turner's Syndrome and Literature Review

This document reported a case of a patient with 21-hydroxylase deficiency (21-OHD) combined with mosaic Turner syndrome, presenting with clitoral hypertrophy and primary amenorrhea. The patient was diagnosed with 21-OHD (simple virilizing type) and mosaic Turner syndrome, confirmed by genetic testing showing two mutation sites in the CYP21A2 gene. Treatment with dexamethasone normalized androgen levels and increased estradiol levels, leading to regular menstruation. A literature review revealed only 10 reported cases of Turner syndrome combined with congenital adrenal hyperplasia (CAH) worldwide, highlighting the rarity of this combination. The study emphasized the importance of early diagnosis and treatment in patients with ambiguous genitalia or confirmed CAH alongside Turner syndrome.