Year: 2025
Type: article
Study design: Case Report
Abstract: Aim. To present a clinical case of pregnancy and delivery in a woman with congenital adrenal hyperplasia (salt-wasting form) and virilization of the external genitalia. Key points. Congenital adrenal hyperplasia represents a group of autosomal recessive disorders caused by defects in steroidogenic enzymes, primarily 21-hydroxylase. Although this condition is strongly associated with infertility and an increased risk of miscarriage, this article demonstrates a clinical case of a successfully completed gestation. It should also be noted that the pregnancy occurred spontaneously. Conclusion. The presented clinical case highlights the multifaceted challenges of congenital adrenal hyperplasia in women and underscores the need for improving medical care for this patient population. Keywords: congenital adrenal hyperplasia, pregnancy, salt-wasting form, heterozygous carrier, c 923dup mutation.
Source: Women s Health and Reproduction
Authors: Y.V. Kukharchyk, Grodno, Belarus, Y.S. Ganushko, N.V. Kachuk, I.I. Kuzmich, N.J. Yushkevich
Institution: Grodno State Medical University
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4411427068