2019-39 / NOVEMBER 18

24-year-old male with congenital adrenal hyperplasia and bilateral testicular masses.


1. What is the correct diagnosis?

a. Leydig cell tumor

b. Germ cell tumor

c. Testicular pseudotumor in adrenogenital syndrome/Testicular adrenal rest tumor

d. Sertoli cell tumor


2. Which enzyme deficiency can result this lesion?

a. 11-β-hydroxylase

b. 21-hydroxylase

c. 17,20-lyase

d. 3- β-HSD

1. c
2. b

1. Testicular pseudotumor in adrenogenital syndrome/Testicular adrenal rest tumor
2. 21-hydroxylase

Testicular adrenal rest tumor (TART, an alternative name is testicular tumor of the adrenogenital syndrome [TTAGS]) is a rare lesion associated with 21-hydroxylase deficiency and congenital adrenal hyperplasia. TARTs are derived from adrenal rests located close to the testis. In healthy individuals, they become atrophic during the development, but due to excess stimulation by ACTH or Angiotensin II, the cells start to proliferate and form palpable nodules which can obliterate the ducts of the rete testis resulting in azoospermia and infertility. As such, TART is generally not considered a neoplastic but rather a hyperplastic process without any malignant potential. Sometimes, TART occurs in teenagers or adolescents, in whom it is mostly related to either an inappropriate drug prescription or a low patient compliance.
Macroscopically, a multinodular, hilum located, yellowish mass can be detected. Histologically, the lesional cells resemble adrenocortical cells, withan abundant eosinophilic cytoplasm containing lipochrome pigment. The cells form cords, sheets or solid nests. Cell divisions and Reinke crystals are absent, but adipose metaplasia and extensive fibrosis are frequently present.
In terms of immunohistochemistry, TART shows a positivity with CD56, synapthophysin inhibin-alfa and melan-A, but the androgen receptor reaction is negative. TART must be distinguished from a Leydig cell tumor, which is a true neoplasm with the potential of an aggressive behavior in 10% of cases.

Wang Z, Yang S, Shi H et al. Histopathological and immunophenotypic features of testicular tumour of the adrenogenital syndrome.
Histopathology 2011;58:1013-8.

Claahsen-van der Grinten HL, Otten BJ, Sweep FC et al. Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue.
J Clin Endocrinol Metab 2007;92:3674–80.

Levente Kuthi
Department of Pathology, University of Szeged


Adrenogenital syndrome, 21-hydroxylase deficiency, TART