Endocrine Abstracts

Congenital Adrenal Hyperplasia (CAH), a genetic adrenal gland disorder, can disrupt hormonal balance, leading to fertility issues in females. Timely interventions, like hormone therapy, are essential for managing fertility concerns and ensuring a safe pregnancy for individuals with CAH. A 28-year-old patient consulted an endocrinologist for a detailed examination due to infertility issues persisting for 2 years. Prior to this, the patient had given birth to a 22-week-old newborn who died within the first day due to infection. During the investigation of infertility causes, 17-OH was incidentally tested despite the absence of hyperandrogenism symptoms (regular menstrual cycle, no hirsutism, no acne). A significantly elevated 17-OH level was found (63.81 nmol/l). Suspecting congenital adrenal hyperplasia, a Synacthen test was performed, but the diagnosis was ruled out (Synacthen test results: 17-OH 0‘ 11.9 nmol/l, 30‘ 11.8 nmol/l, 60‘ 9.06 nmol/l). The patient consulted with a geneticist, and two pathogenic variants of the CYP21A2 gene were identified. Upon repeating the Synacthen test, CAH was diagnosed (Synacthen test results: 17-OH 0‘ 37.3 nmol/l, 30‘ 154 nmol/l, 60‘ 199 nmol/l). Treatment with dexamethasone 0.25 mg/p was prescribed, assisted fertilization was recommended, and the male partner was advised to undergo CYP21A2 mutation screening (not detected). The patient underwent intrauterine insemination, but it was unsuccessful: at 13 weeks, a single embryo reduction was performed, and at 17 weeks, there was a miscarriage of the second fetus. Two days later, with no remaining fetal cardiac activity, an abortion was performed. After the unsuccessful pregnancy, the patient was reevaluated by a geneticist, and antiphospholipid syndrome was confirmed (anti-cardiolipin antibodies (IgM) - 99.96). The patient underwent a second intrauterine insemination and one successfully implanted. Due to CAH, dexamethasone was discontinued, and hydrocortisone 5 mg was started three times a day. Aspirin and low-molecular-weight heparin were prescribed for antiphospholipid syndrome. During pregnancy, the patient consulted with a geneticist again, and it was assessed that the risk of CAH for the fetus was minimal (the fetus is an obligate carrier of one pathogenic variant of the CYP21A2 gene). Chromosomal anomaly testing (PRISCA) was performed with low-risk results. A healthy male newborn was delivered via cesarean section at 38 weeks (APGAR 9). Stress doses of hydrocortisone were administered during delivery, and the postoperative period was uneventful. In conclusion, despite complexities involving congenital adrenal hyperplasia, antiphospholipid syndrome, and infertility, a multidisciplinary approach, including genetic consultations, resulted in the successful delivery of a healthy newborn.