ECE2023 Rapid Communications Rapid Communications 4: Reproductive and Developmental Endocrinology (6 abstracts)
Women carrying CYP21A2 mutations display clinical findings and metabolic/hormonal profile analogous to women with non classical congenital adrenal hyperplasia and polycystic ovary syndrome
Sarantis Livadas 1 , Dimitrios Goulis 2 , Elisabetta eBelardinelli 3 , Elena Armeni 4 , Beatrice Solmi 3 , Stavroula Veneti 2 , Irene Lambrinoudaki 5 , Carolina Cecchetti 3 , Djuro P. Macut 6 & Alessandra Gambineri 3
1Athens Medical Centre, Athens, Greece, 2, Unit of Reproductive Endocrinology, 1st Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Greece; 3Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 4Royal Free Hospital NHS Foundation Trust, London, UK; 5Second Department of Obstetrics and Gynecology, Aretaieio Hospital, Medical School, National and Kapodistrian University of Athens, Greece; 6Clinic of Endocrinology, Diabetes and Metabolic Diseases, Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Heterozygotes carrying CYP21A2 gene mutations are found in 5-10% of the general population in Mediterranean countries. Accumulating data suggest a survival advantage of this population, despite the fact that carriers of two mutations suffer from either classical or non-classical congenital adrenal hyperplasia (NC-CAH), an entity with increased mortality. In an attempt to elaborate on this issue we evaluated females of reproductive age with CYP21A2 heterozygocity (HET). We have analyzed data from 56 HET were compared with 105 controls, 64 untreated females suffering from NC-CAH and 63 women with Polycystic ovary syndrome (PCOS), of similar age and BMI. We have found that the prevalence of hirsutism (54 vs 8%) and acne (44 vs 4%) was higher in HET than controls and the degree of menstrual irregularities was similar between HET and NC-CAH and worse than controls. The lipidemic profile was significantly better in HET compared to PCOS (Cholesterol 170.20±37.06 vs 187.67±39.34 mg/dl, HDL 61.42±26.11 vs 46.81±8.58 mg/dl). However, Testosterone 0.78±0.45 vs 0.50±0.25 ng/dl), SHBG (38.20±20.11 vs 56.20±31.37 nmol/l), FAI (9.56±3.45 vs 5.37±1.24) and DHEAS concentrations (2.62±1.31 vs 1.27±0.94 nmol/l) were comparable among HET, NC-CAH, PCOS and significantly higher than controls, as well as insulin (13.88±7.96 vs 7.51±2.82 IU/l) and HOMA-IR (2.95±1.60 vs 1.65±0.67). Androstenedione (5.97±2.88 vs 8.80±3.45 ng/ ml) and 17hydroxy-progesterone (4.32±2.02 vs 13.75±8.34 ng/ ml) values were lower than the corresponding ones in NC-CAH, but significantly higher in HET than PCOS and controls. Finally, ovarian Pcomorphology prevalence was found similar in HET to NC-CAH and PCOS. Therefore, we conclude that women pf reproductive age carrying CYP21A2 mutations display a favorable lipidemic profile, but a similar degree of hyperandrogenic signs, menstrual disturbances, insulin resistance, hyperandrogenemia and ovarian morphology with women suffering from either PCOS or NC-CAH. Therefore, it is obvious that these women, when identified they should be carefully followed up.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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