Introduction: Hyperandrogenism is a common presenting complaint during the transition period; however, clinical, hormonal and metabolic parameters in these patients have not been yet adequately characterized.
Objective: To evaluate the disease-related history, clinical presentation and biochemical parameters in patients diagnosed during this period with nonclassic congenital adrenal hyperplasia (NCCAH) due to 21α hydroxylase deficiency and patients with functional ovarian hyperandrogenism (FOH).
Method: We retrospectively evaluated 28 patients with NCCAH (confirmed by mutations in CYP21A2) and 28 patients with FOH who presented at the age of 1525 years. The following aspects were analyzed: age at menarche, BMI, menstrual disorders, hirsutism, acne, increased sweating, premature pubarche, androgenic alopecia, testosterone, androstenedione, dehydroepiandrosterone-sulfate, 17α hydroxyprogesterone (17OHP), LH, FSH, insulin, blood glucose and lipid profile.
Results: Significant differences were found in the age at menarche: NCCAH 11.7 years (914), FOH: 13 years (1118) (P<0.002). Only the NCCAH group showed premature pubarche (n=4), sweating (n=3), alopecia (n=4). In the FOH group, a higher tendency to acne was observed (P=0.09); with no differences in menstrual disorders and hirsutism. The NCCAH group showed higher levels of 17OHP (ng/ml): NCCAH 13.3 (2.354), FOH 1.45 (0.354.0) (P< 0.0001) and the FOH group, showed a tendency towards higher levels of LH (mIU/ml): NCCAH 6.4(2.021.6), FOH 9.1(1.624.4) (P=0.054). No significant differences were found in the metabolic parameters evaluated.
Conclusions: During the transition period, the time of onset and clinical manifestations in hyperandrogenic patients, in addition to 17OHP and LH measurements, may provide better guidance regarding etiology. The NCCAH group was characterized by earlier clinical manifestations, perhaps related to the pathophysiology of this condition, as hyperandrogenism would be present since earlier stages. No differences were found in the metabolic profile regardless of etiology, suggesting that metabolic aspects could be influenced by hyperandrogenism rather than by the underlying condition.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology