Non-classical congenital adrenal hyperplasia (NCCAH) is a common autosomal recessive disease caused by partial or complete 21-hydroxylase deficiency, causing increased production of adrenal androgens and steroid precursors. As a hyperandrogenic condition, it negatively affects psychological health and quality of life.
Aim: To evaluate the clinical-laboratory profile, psychological health, and quality of life in patients with NCCAH compared to healthy controls.
Materials and methods: A cross-sectional study was conducted. It included 34 patients with NCCAH (mean age 16.2±3.4 years) and 34 healthy controls (mean age 15.0±3.1 years). Data on anthropometry, clinical and laboratory features of hyperandrogenism, and menstrual irregularities were collected. A validated World Health Organization (WHO) Quality of Life Questionnaire-26 was used to assess physical (D1) and psychological (D2) health, social relationships (D3), and environment (D4). Psychological assessment was evaluated using the EDI-3 standardized questionnaire.
Results: Hirsutism and acne were more common in girls with NCCAH, also showing a higher Ferriman-Gallwey score (18.7±5.3 vs 7.7±8.3, p<0.001) correlating with Androstendione and 17OHProgesterone levels (r=0.519, p<0.001, r=0.424, p<0.001). The presence of overweight or obesity was found in 17.7% of all participants, with no significant difference between groups. Analyzing the WHOBrief QoL questionnaire, the NCCAH girls showed significantly lower physical and psychological health scores as well as worse EDI-3 scores on 8 of all the psychological scales used.
Conclusion: Girls with NCCAH commonly demonstrate both clinical and biochemical hyperandrogenism, which is closely associated with impaired QoL and psychological health.
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