Endocrine Abstracts

CaHASE is a multicentre cross-sectional study of the health status of adults with congenital adrenal hyperplasia (CAH). Although fertility is considered to be reduced in both sexes, few published series report the proportion that has actively sought pregnancy. About 203 patients were recruited from 17 centres. Four patients (3, 11-hydroxylase, 1 HSD3B2 deficient) were excluded from analysis. Demographics are shown in Table 1.

Males: About 30/65 (including 2 with 46XX genotype reared as male in the 1950s) had a long term partner. 24/65 had attempted pregnancy. 16/24 (67%) were successful, 11 of whom had originally presented with a salt-wasting crisis (25 spontaneous live births, 2 live births following fertility treatment, 2 current pregnancies). 11/16 (69%) patients investigated with ultrasound had evidence of testicular adrenal rest tumours (TART). A further 4 had previously undergone orchidectomy.

Females: Menarche was spontaneous in 107/134 (80%) at median (range) age 13(9–25) years. Menstrual cycles in pre-menopausal women (data for 101) were regular (44/101), regular with oral contraception (21/101), oligomenorrhoea (19/101) and amenorrhoea (17/101). 92/134 (69%) had undergone genital reconstruction, 38 more than once, 21 in adulthood. Polycystic ovaries were seen in 8/23 (35%) investigated with pelvic ultrasound. 47/134 (35%) had sought pregnancy (21/31 non-classic, 26/103 classic). 28/47 (14 non-classic, 14 classic) reported 46 live births (including 6 following fertility treatment).

Conclusion: In this series only 14% of females with classic CAH had a history of successful pregnancy. Proportionately more non-classic females had sought pregnancy with a higher success rate. Fertility in males was encouraging with a positive outcome in 67%. Testicular ultrasound, where employed, had a high diagnostic yield for TART.

CaHASE are grateful to the Society for Endocrinology for the management of the project and The Clinical Endocrinology Trust for their financial support.