Spontaneous pregnancy in a patient with salt-wasting congenital adrenal hyperplasia due to 21-hydroxilase deficiency: a case report and a literature review

The present article describes a rare case of pregnancy in a woman with the salt-wasting form of congenital adrenal hyperplasia, 21-hydroxilase deficiency. The patient had been undergoing long-term glucocorticoid and mineralocorticoid therapy. The clinical profile included pronounced hyperandrogenism, a markedly burdened gynecological history, and longstanding infertility. Despite both partners being confirmed heterozygous carriers of pathogenic variants in the CYP21A2 gene, spontaneous conception occurred. The pregnancy was closely monitored and managed by a multidisciplinary team, with individualized adjustment of hormone therapy in accordance with gestational requirements. The antenatal course was uneventful, and at 38 weeks of gestation, an elective cesarean section was performed, resulting in the delivery of a healthy, full-term female neonate. Postnatal genetic testing revealed heterozygous carrier status without phenotypic manifestations of the disease. This clinical case highlights the potential for successful reproductive outcomes in women with severe forms of congenital adrenal hyperplasia, given timely diagnosis, long-term follow-up, and personalized therapeutic strategies. Furthermore, the report underscores the ethical dimensions of reproductive autonomy and parental decision-making in the context of rare autosomal recessive disorders.