Improvement of semen quality in an infertile man with 21‐hydroxylase deficiency, suppressed serum gonadotropins and testicular adrenal rest tumours

Abstract

Here, we report improvement of semen quality in a 30-year-old man with congenital adrenal hyperplasia (CAH) because of 21-hydroxylase deficiency, bilateral testicular adrenal rest tumours (TART) and a 1.5-year infertility history. His adrenal substitution therapy was changed from hydrocortisone 10 mg once daily to 10 mg three times daily in combination with dexamethasone, 0.1 mg once daily. Upon this change, the testicular tumours showed regression and his sperm concentration increased from 0.1 to 98 mio/mL and total sperm count from 0.64 to 392 mio. sp., total number of motile spermatozoa increased from 0.23 to 258.72 mio. The total number of morphologically normal spermatozoa increased from 0.01 to 19.6 mio. sp. The patient reported improved well being and did not develop signs of overtreatment. A non-optimal medical substitution therapy of this CAH patient is the most likely explanation for the presence of TART and disturbed reproductive hormones levels, leading to impaired semen quality. Optimizing the medical treatment may at least in some cases improve fecundity.

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

“…Indeed, the gonadotropin inhibition linked to elevated 17OHPROG, PROG and ADIONE levels might itself be responsible for azoospermia. If so, this cause of infertility might be treated by increasing the doses of glucocorticoids, which can lead to a decrease in these adrenal precursors, normalize gonadotropin levels, and improve the sperm count (31)(32)(33)(34).…”

Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia

“…The use of dexamethasone (0.25-0.5 mg p.o. administered in a single late-evening dose) with or without additional hydrocortisone doses (12,33) and/or the addition of fludrocortisone are other current treatment options. The first options were not chosen due to our patient's fear of weight gain and other symptoms of Cushing's syndrome.…”

21-Hydroxylase Deficiency Associated with Male Infertility: Report of 2 Cases with Gene Analyses

“…Although a 17-OHP concentration in serum of greater than 6 nmol/L, which is compatible with a diagnosis of non-classical 21-hydroxylase deficiency, was detected in 11 of 222 patients (5.0%) with abnormal findings in sperm analysis conducted in a previous study, routine measurement of 17-OHP for evaluation of male infertility is not recommended, as that study found no correlations between sperm parameters and serum 17-OHP levels (20).…”

“…As for treatment, the importance of adequate glucocorticoid therapy has been emphasized to achieve successful treatment for male infertility (6). It also has been reported that clomiphene citrate treatment in addition to hormonal manipulation was successful in azoospermic patients with adrenal rests in the testes (7).…”