Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies).
We describe the case of a 20-year-old patient with salt-wasting congenital adrenal hyperplasia (CAH) related to 21-hydroxylase deficiency. Bilateral craggy testicular tumours were found, requiring histological evaluation. Prior to the surgical procedure, the patient was treated with dexamethasone (he presented cortisol deficiency) and was stimulated with ACTH. High levels of 11beta-OH steroids measured in the gonadal vein, compared with peripheral blood samples suggested the presence of adrenal rests. Incubation of the tumours (which could not be differentiated histologically, from Leydig tissue), with radioactive steroid precursors was carried out. The results revealed the testicular tumours were of adrenal tissue origin, associated with 21-hydroxylase deficiency. The patient's non-compliance to glucocorticoid treatment was the main cause of his hypogonadotropic hypogonadism.
Bercovici
Jean Pierre
JP
Department of Endocrinology, Université de Bretagne Occidentale (UBO), 29200 Brest, France.
Fiet
Jean
J
Gibault
Laurence
L
Volant
Alain
A
Abalain
Jean Hervé
JH
Floch
Hervé Henri
HH
Sonnet
Emmanuel
E
Fournier
Georges
G
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications*; D000314:Adrenal Rest Tumor / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D000324:Adrenocorticotropic Hormone / Q000494:pharmacology; D000328:Adult; D019314:Dehydroepiandrosterone Sulfate / Q000097:blood; D003907:Dexamethasone / Q000627:therapeutic use; D003937:Diagnosis, Differential; D005438:Fludrocortisone / Q000627:therapeutic use; D005640:Follicle Stimulating Hormone / Q000097:blood; D005500:Follow-Up Studies; D005938:Glucocorticoids / Q000627:therapeutic use; D007987:Gonadotropin-Releasing Hormone / Q000378:metabolism; D006801:Humans; D006854:Hydrocortisone / Q000172:deficiency; D007006:Hypogonadism / Q000209:etiology; D007265:Inhibins / Q000097:blood; D007984:Leydig Cell Tumor / Q000175:diagnosis; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D011388:Prolactin / Q000097:blood; D012083:Renin / Q000097:blood; D013255:Steroid 21-Hydroxylase / Q000378:metabolism*; D013736:Testicular Neoplasms / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D016312:Treatment Refusal; D014463:Ultrasonography
D005938:Glucocorticoids; C422364:inhibin B; D007987:Gonadotropin-Releasing Hormone; D007265:Inhibins; D019314:Dehydroepiandrosterone Sulfate; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013255:Steroid 21-Hydroxylase; D012083:Renin; D005438:Fludrocortisone; D006854:Hydrocortisone