Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessively inherited disorder resulting from the mutations of one of Seven genes involved in adrenal steroidogenesis. The consequent enzyme defects lead to defects of varying severity of steroid biosynthesis. Patients require lifelong substitution treatment and endocrine care.

Objectives: One of the many consequences of CAH is reduced fertility. The aim of this study was to investigate the fertility parameters of 36 patients with 21-hydroxylase deficiency (21-OHD).

Patients and Methods: The study included 36 patients (19 women, 17 men) suffering from salt wasting (24) and simple virilizing (12) forms of 21-OHD followed at our endocrine centre. The mean age was 34.5 years (20–48 years). Serum hormone levels essential to follow for optimal treatment were analysed. In males, spermatogram and testicular ultrasound were performed. In women, regularity of menstrual cycles were recorded.

Results: Serum androstenedione (AD) levels were below the lower limit in 5 patients (ref. range: .70-250 ng/dl) while in 2 patients they were above the upper limit of normal. Twenty-four patients had normal serum androstenedione level. Low, normal and elevatedserum 17-hydroxyprogesterone (17-OHP, ref. range: 40-250 ng/dl) concentrations were measured in 2, 13 and 21 patients, resp. ACTH levels were low, normal and increased in 1, 22 and 13 patients, resp. (ref. range: .7.2-63.3 pg/ml). Testicular ultrasound examinations confirmed epididymal cyst in 1 patient, testicular adrenal rest tumors (TART) in 10 patients. Semen analysis was performed in 11 men. Azoospermia, oligozoospermia (<39 million/ejaculations) and normal sperm counts were recorded in four, one and six males, resp. However, considering the sperm concentration (> 15 million/ml), only 4 subjects had adequate results; all of them had satisfactory (> 4%) sperm morphology. Examining the progressive movement of the spermatozoa, reduced movement (asthenozoospermia, less than 32%) was observed in 9 subjects. Overall, considering the number, morphology, and movement of spermatozoa, only 2 (27%) patients had normal values. Among the 19 female patients, 12 underwent feminizing genitoplasty in childhood, and almost all patients still use regular manual vaginal dilation. Nine female patients are using oral contraceptive pills. Four female patients gave birth after spontaneous conception, and two male have children.

Conclusion: Our results confirm that patients with 21-OHD have reduced fertility parameters and conditions in both genders. A multidisciplinary approach including endocrinologist, andrologist and gynecologist is necessary for adequate treatment