Endocrine Abstracts

JOINT2560

Background: Female patients with classic congenital adrenal hyperplasia (CAH) experience significantly reduced fertility due to hormonal dysregulation, psychosocial and psychosexual factors and anatomical changes following surgery for virilised external genitalia. Normal fecundity can be achieved with optimal hormonal management; however, achieving optimal hormonal control is challenging, leading to a prolonged time to pregnancy compared to the general population.

Clinical Case: We report the case of a 33-year-old woman with simple virilising CAH and infertility for over three years. CAH was diagnosed at the age of two; since then, she received glucocorticoid (GC) replacement therapy and had a normal pubertal development. On prednisolone substitution and antiandrogenic contraception, she maintained good hormonal control, showed no clinical signs of hyperandrogenism and had a regular menstrual cycle. At the age of 30, she stopped contraception in order to conceive. She experienced inadequate hormonal control, irregular menstrual cycles and no spontaneous pregnancies occurred. To optimise disease control her treatment was adjusted multiple times, including the use of prednisolone and dexamethasone, dose escalations and additional fludrocortisone. Assisted reproductive technologies, including two cycles of in vitro fertilization, were unsuccessful. While the concentrations of follicular 17OHP and androgens normalised with increased GC dosage, morning serum follicular progesterone concentrations remained elevated. The patient was then switched to the newly available modified-release hydrocortisone (MR-HC Efmody®) at a daily dose of 35 mg/day (10-0-0-25mg). A non-stimulated spontaneous dichorial twin pregnancy occurred within 9 weeks. The course of pregnancy was uneventful and the patient delivered two healthy girls via caesarean section. After delivery and breastfeeding hormonal parameters revealed morning serum follicular progesterone concentrations within the target range under MR-HC treatment.

Conclusion: The presented case of a female patient with classic CAH and infertility for over three years highlights the challenges of fertility treatment in CAH. The normalisation of morning follicular progesterone concentrations and the successful spontaneous pregnancy under MR-HC treatment, indicate that due to the circadian release MR-HC normalises adrenal steroid precursor synthesis in a more physiologic manner. Therefore, it could be a promising therapeutic option for fertility treatment in women with classic CAH.