Endocrine Abstracts

Background: Affected patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are often insufficiently informed about disease-specific aspects of reproduction. Reasons for lower fertility rates in female patients with CAH are hormonal dysregulations, anatomical changes resulting from virilized genital surgeries and psychosocial and psychosexual factors. Fecundity, however, is comparable to the normal population. Male patients with CAH also have comparable fecundity under optimal therapy, but testicular adrenal rest tumors (TART) and adrenal androgen excess can negatively affect spermatogenesis. As long as optimal therapeutic control is achieved, course and outcome of pregnancies is not affected.

Objective: Due to the discrepancy between fertility and fecundity in patients with classic CAH, our aim was to develop a patient guide that informs female and male patients with CAH about disease-specific aspects of fertility and pregnancy. It can also be used for patient education by nurses and physicians.

Design and Methods: In order to develop the most detailed and helpful patient guide for CAH patients of childbearing potential, a literature research was conducted. The research included the basics of CAH, fertility and fecundity in male and female CAH patients, prenatal dexamethasone therapy and important factors to consider before and during pregnancy. The information was summarized and used to develop expert-based patient guidelines.

Results: Two separate leaflets were developed addressing sex-specific aspects of reproduction for both male and female patients with classic CAH. Based on the DSD-Life study, which demonstrated lower birth rates in patients with CAH and an impairment in psychosocial and psychosexual functioning, patients are now educated about factors that may affect fertility and fecundity. Further considerations during pregnancy planning are also addressed. The brochure also contains information on clinical check-ups during pregnancy.

Conclusions: A leaflet containing information on disease-specific aspects of reproduction was developed for CAH patients. It aims to convey information on optimal treatment, genetic counselling and prenatal dexamethasone therapy in order to prevent unjustified worries, uninformed decision-making and suboptimal treatment. The extent to which the developed brochures are helpful for patients with classic CAH needs to be evaluated and assessed in future studies.