SAT-470 - Fertility and Reproductive Outcomes in Adults with Congenital Adrenal Hyperplasia: Data from A Single-Center Cohort

Background

Congenital adrenal hyperplasia (CAH) is a lifelong endocrine disorder with well-recognized implications for reproductive health. Although considerable progress in our understanding of the issues of fertility and reproductive health has been made, no data from Polish centers has been published so far. The aim of our study was to assess fertility, parenthood, and pregnancy-related outcomes in a cohort of adult patients with CAH, with a focus on clinically relevant sex-specific aspects.

Methods

We conducted a cross-sectional analysis of adult patients with CAH followed at a tertiary endocrine center. Demographic characteristics, sex, parenthood status, and pregnancy history were obtained from patient-completed surveys. Reproductive outcomes were analyzed descriptively and stratified by sex where applicable.

Results

The cohort included 37 adults with CAH (31 women [83.8%] and 6 men [16.2%]). Eleven patients reported having children (29.7%), while 23 reported no offspring (62.2%); parenthood status was unavailable in 3 cases (8.1%).

Among patients who provided information on attempts to conceive (n = 11), 10 (90.9%) reported active attempts to achieve pregnancy, while 1 (9.1%) reported no attempts. Reported time to conception ranged from immediate conception to 7 years; due to heterogeneous reporting formats, calculation of mean or median time to conception was not feasible.

Among women with CAH who reported childbirth (n = 11), cesarean section was the predominant mode of delivery, occurring in 8 cases (72.7%). Pregnancy- or delivery-related complications were reported in 5 women (45.5%). Only 2 partners (18.2%) underwent genetic testing prior to conception.

Among 31 women with CAH, four (12.9%) reported at least one miscarriage. No cases of recurrent miscarriage (three or more pregnancy losses) requiring extended diagnostic work-up were reported.

Conclusions

In this cohort of adults with CAH, fewer than one-third reported parenthood despite most being of reproductive age. Pregnancy outcomes were characterized by a high rate of cesarean delivery and a substantial burden of pregnancy-related complications. Although recurrent miscarriage was not observed, sporadic pregnancy loss was reported in a notable proportion of women.

The low uptake of partner genetic testing prior to conception highlights gaps in preconception counseling and genetic risk assessment. Overall, these findings underscore the need for structured, multidisciplinary reproductive care for adults with CAH, integrating endocrine management with obstetric, genetic, and psychosocial support to optimize fertility and pregnancy outcomes.

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