Endocrine Abstracts

Objective: Nonclassic congenital adrenal hyperplasia (NCCAH, NCAH) or late onset congenital adrenal hyperplasia (LOCAH) is a specific type of congenital adrenal hyperplasia due to P450c21 (21-hydroxylase) deficiency with variable degrees of postnatal androgen excess, is sometimes asymptomatic (Kohn B et al. 2010; Speiser PW et al., 2010). To study the frequency NCCAH in adolescent girls.

Patients and Methods: The prevention examination of 2527 adolescents- schoolgirls (aged 12–17 yrs, mean age was 15.5 ± 1.9 years) was carried. The main outcome measures were primary oligomenorrhea and amenorrhea. Adolescent girls without menstrual disorders formed the control group (n = 50). A full clinical examination, hormonal analysis and pelvic ultrasound examination were conducted. CYP21A2 genotyping in girls with elevated 17-OH progesterone hormone levels (basal 17-OHP concentration ≥ 2 ng/ml (6 nmol/l) was performed. This study was carried out in accordance with the Helsinki Declaration. Data was analyzed using SPSS Statistics v 24.0.0.0. Data was compared using chi-square test and P ≤ 0.05 was regarded as statistically significant.

Results: Primary oligomenorrhea was present in 22%, primary amenorrhea – in 3 girls. The investigation showed that in 7 girls with oligomenorrhea was diagnosed nonclassic congenital adrenal hyperplasia due to P450c21 (21-hydroxylase deficiency). In all cases the first symptom was premature pubarche. All these girls have demonstrated hyperandrogenemia, high 17-OH progesterone hormone levels, advanced bone age, mammary hypoplasia, multifollicular ovaries. In the control group hyperandrogenemia was diagnosed in 1% and multifollicular ovaries – in 8% girls, mammary hypoplasia in 1 girls (P < 0.01).

Conclusions: In our study nonclassic congenital adrenal hyperplasia was found in 7 (0.3%) adolescent girls. The phenotypic presentation of NCCAH in the adolescentgirls included symptoms of hyperandrogenia such as premature pubarche, hirsutism, primary oligomenorrhea, advanced bone age, mammary hypoplasia, multifollicular ovaries.