# Spontaneous Pregnancy in Genetically Confirmed 11-Beta Hydroxylase Deficiency: A Case Series and Literature Review

## TL;DR

Two women with genetically confirmed 11-beta hydroxylase deficiency achieved spontaneous pregnancies, highlighting the condition's varied effects on fertility.

## Contribution

Reports two rare cases of spontaneous pregnancy in genetically confirmed 11βOHD, expanding understanding of its reproductive outcomes.

## Key findings

- A woman with classic 11βOHD had a successful spontaneous pregnancy despite high androgen levels and prior surgery.
- A non-classic 11βOHD patient experienced multiple spontaneous pregnancies and showed a broad range of clinical features.
- The cases emphasize the importance of accurate diagnosis and reproductive counseling for CAH patients.

## Abstract

11-beta hydroxylase deficiency (11βOHD) is a rare variant of congenital adrenal hyperplasia (CAH) with autosomal recessive inheritance, resulting in androgen excess and mineralocorticoid precursor accumulation. Fertility is often impaired due to hyperandrogenism and anatomical abnormalities, and spontaneous successful pregnancy in classic form is rare. We describe two cases. Case 1 is a 27-year-old woman with genetically confirmed classic 11βOHD (homozygous CYP11B1 splice-site variant c.240-2A>G), initially misdiagnosed as 21-hydroxylase deficiency, who achieved spontaneous conception despite high androgen levels, long-term steroid exposure, and prior genital surgery and delivered a healthy male child. Case 2 is a genetically confirmed non-classic 11βOHD (homozygous, missense variation, c.412C>T), presented with medullary nephrocalcinosis, clinical history of polycystic ovary syndrome (PCOS) in adolescence, short stature, hypertension with hypokalemia, and had spontaneous pregnancies. These cases add to the very limited literature on spontaneous fertility in genetically confirmed 11βOHD cases and highlight its broad clinical spectrum. They emphasize the need for accurate diagnosis, long-term complications surveillance, and reproductive counselling in CAH patients.