Spontaneous Pregnancy and Biochemical Improvement in a Woman with Non-Classical Congenital Adrenal Hyperplasia Treated with Modified-Release Hydrocortisone
Year: 2025
Type: preprint
Study design: Case Report
Abstract: Introduction. Non-classical congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency is associated with chronic hyperandrogenism, menstrual irregularities, and subfertility. Modifiedrelease hydrocortisone (MRHC) therapy, which mimics physiological cortisol rhythms, may enhance reproductive outcomes. Clinical experience with MRHC in the preconception setting is still limited. Case presentation. A 33-year-old woman with genetically confirmed NCCAH (homozygous c.841G>T; p.Val281Leu in CYP21A2) and a history of long-standing oligomenorrhea achieved spontaneous pregnancy after four months of MRHC therapy (5 mg AM + 10 mg PM), following long-term treatment with immediate-release hydrocortisone (IRHC). The hormonal profile showed a significant decrease in adrenal androgens under MRHC (17-hydroxyprogesterone from 56 to 28.6 ng/mL; androstenedione from 6 to 5.31 ng/mL; testosterone from 0.72 to 0.63 ng/mL). After conception, MRHC was discontinued and IRHC reintroduced. Pregnancy was uneventful, and a healthy male neonate was delivered vaginally at term. Conclusion. MRHC may offer clinical and biochemical benefits in women with NCCAH seeking pregnancy, with favorable modulation of the androgenic profile. This case supports MRHC as a valuable preconception therapeutic strategy. However, IRHC remains the standard during gestation. Further prospective data are needed to guide long-term endocrine and reproductive care in this population.
Authors: M, Alberto Vassallo
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W4413638617