Testicular adrenal rest tumours in young adult males with congenital adrenal hyperplasia: prevalence and impact on testicular function

Abstract

Testicular adrenal rest tumours (TARTs) have been described in patients with congenital adrenal hyperplasia (CAH). The aim of the study was to determine the prevalence of TARTs in patients with CAH, the associated factors and their impact on gonadal function. It is a prospective study concerning six young adult men with CAH, four cases with 21-hydroxylase deficiency and two cases with 11-hydroxylase deficiency. All patients were under glucocorticoid therapy. The mean age was 25 years (range: 20-31). All patients underwent a physical examination with testicular palpation, scrotal ultrasonography, a blood sample for serum testosterone, FSH, LH, inhibin B, ∆4-androstenedione and 17-OH-progesterone measurements and a semen analysis. Ultrasound revealed TARTs in four patients; three were bilateral. The mean tumour size was 6.3 ml (range: 0.02-14.1). The tumours were palpable in two cases. 17-OH-progesterone was <10 ng/ml in all cases. Decreased testosterone level was found in one case. The semen analysis revealed azoospermia in one case and poor semen quality in four patients. TARTs were common and associated with impaired spermatogenesis.

Congenital adrenal hyperplasia

“…Low inhibin B levels reflect declining Sertoli cell function and can be used to monitor. 106 The prevalence of TART is between 44-94% of men 98,107,114,115 and 21-33% of boys 98,116 with classic 21OH, and has also been reported in 11βOH and HSD3B2 deficiency, [117][118][119] and rarely in nonclassic CAH. 114 TART shrinkage and reversal of infertility are possible with glucocorticoid therapy; 120 however the response is variable, because non-reversible fibrotic changes may occur over time.…”

The Obscured Bilateral Testicular Tumors: Is It Adrenal Rest Tumors or Leydig Cell Tumors

“…They are always benign, although compression of the seminiferous tubules may lead to obstructive azoospermia, irreversible damage of the surrounding testicular tissue, and consequently infertility. [11][12][13] Differentiating Leydig cell tumors from the tumors of the adrenogenital syndrome can be difficult, and testis tumors associated with adrenogenital syndrome presenting at later age are frequently misdiagnosed as Leydig cell tumors. 14 Clinical differences can assist in the diagnosis.…”

Health problems of adolescent and adult patients with 21-hydroxylase deficiency

“…TARTs have been found in 20% to 50% of male patients with classical 21-OHD ( 12 , 30 , 31 , 32 ). The pathogenesis of TART is considered to involve adrenocortical primordial cells, which aberrantly move into the testis or reprogram Leydig cell precursors ( 30 , 31 , 32 ). TARTs destroy normal testicular tissue and cause compression of the seminiferous tubules leading to obstructive azospermia.…”