Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: frequency in children with precocious pubarche and in adolescent girls with menstrual disturbances and/or hirsutism

Abstract

We searched for nonclassic congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency [NC-CAH(21-OH)] in 272 patients: 123 (92 female, 31male), aged 3.2–12 years (group I) with a history of precocious pubarche (onset 6.2 ±1.3 years) and in 149 adolescent girls aged 11.8–18 years with symptoms developed after normal puberty: 70 with isolated hirsutism, 71 with hirsutism accompanied by menstrual disturbances, 6 with menstrual disturbances only, 1 with clitoromegaly only. We used 24-h urinary steroid profiling by capillary gas chromatography for diagnosis. NC-CAH(21-OH) was diagnosed in 11 patients (7 female, 4 male) in group I (8.4%) and 7 in group II (4.7%). The clinical symptoms of these patients varied in group I from precocious pubic hair only (6 female, 2 male) to precocious growth of pubic hair and mild clitoromegaly in addition (3 female), and in group II from primary amenorrhea (1 patient), to hirsutism and menstrual irregularities (5 patients) and polycystic ovary syndrome in addition (1 patient), and isolated clitoromegaly (1 patient). The frequency of NC-CAH(21-OH) in our patients of Polish origin seems to be in the range of values reported by other authors for different populations.