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To describe the presence of dysregulations in steroid biosynthesis and the risk of functional ovarian hyperandrogenism (FOH) and polycystic ovary syndrome (PCOS)-like development in children with hyperandrogenism, 28 girls were studied. Adrenal steroidogenic profile was defined by basal and ACTH-stimulated levels of 17OHP, cortisol, DHEAS and androstenedione, and delta precursor/delta product ratios. Ovarian hyperandrogenism was defined by 17OHP response to LHRH stimulation, and pelvic ultrasonography (US) was performed to evaluate ovarian morphology. Basal and ACTH-stimulated hormonal results revealed non-classical 21-hydroxylase deficiency-like status in one patient (3.6%), and 21-hydroxylase deficiency heterozygote carrier-like state in four patients (14.3%), while the other 23 patients (82.1%) had functional adrenal hyperandrogenism (FAH). Among these patients with FAH, 47.83% had FOH; when these patients were evaluated by pelvic US, 30.4% had morphological changes which were not concordant with their age. We suggest that even mild forms of hyperandrogenism must be considered seriously and dysregulations of the steroidogenic pathway and ovarian abnormalities must be evaluated carefully to determine the risk of FOH/PCOS.

The Risk of Functional Ovarian Hyperandrogenism and Polycystic Ovary Syndrome in Patients with Hyperandrogenism