title: Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies).
abstract: 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.
authors.affiliation: Department of Endocrinology, Université de Bretagne Occidentale (UBO), 29200 Brest, France.
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Bercovici
authors.forename: Jean
authors.initials: J
authors.lastname: Fiet
authors.forename: Laurence
authors.initials: L
authors.lastname: Gibault
authors.forename: Alain
authors.initials: A
authors.lastname: Volant
authors.forename: Jean Hervé
authors.initials: JH
authors.lastname: Abalain
authors.forename: Hervé Henri
authors.initials: HH
authors.lastname: Floch
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Sonnet
authors.forename: Georges
authors.initials: G
authors.lastname: Fournier
mesh_terms: 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
chemical_list: 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