title: Unilateral testicular tumour associated to congenital adrenal hyperplasia: Failure of specific tumoral molecular markers to discriminate between adrenal rest and leydigioma.
abstract: Testicular adrenal rest tumours are frequently associated with congenital adrenal hyperplasia (CAH). These ACTH-dependent tumours cannot be easily distinguished histologically from Leydig-cell tumours. We report the case of a 30-year-old man who was explored for infertility, azoospermia and unilateral testicular tumour. High levels of 17-OH progesterone and ACTH, low cortisol and undetectable gonadotropins levels, associated to bilateral adrenal hyperplasia, led to the diagnosis of CAH by 21-OH deficiency with a composite heterozygoty. The testicular tumour was first considered as adrenal rest. However, histological analysis of this unilateral painful tumour showed a steroid-hormone-secreting cell proliferation with atypical and frequent mitosis. To discriminate between a benign adrenal rest tumour and a possible malignant leydigioma, tumoral expression of specific gene products was analyzed by RT-PCR. No 11-beta-hydroxylase nor ACTH receptor mRNAs could be found in the tumour, which did not behave like usual adrenal rest cells. For this unilateral testicular tumour, the lack of adrenal-specific markers associated with a high rate of mitosis and pleiomorphism supported a leydigian origin with malignant potential. However, lack of tumoral LH-R mRNA expression and a tumour-free 3-year follow-up led us to retain the diagnosis of adrenal rest tumour with loss of adrenal gene expression and progressive autonomous behaviour.
authors.affiliation: Service d'endocrinologie et médecine de la reproduction, hôpital de l'Archet, CHU de Nice, BP 3079, 06202 Nice cedex 03, France. fenichel.p@chu-nice.fr
authors.forename: P
authors.initials: P
authors.lastname: Fenichel
authors.forename: B
authors.initials: B
authors.lastname: Bstandig
authors.forename: C
authors.initials: C
authors.lastname: Roger
authors.forename: D
authors.initials: D
authors.lastname: Chevallier
authors.forename: J-F
authors.initials: JF
authors.lastname: Michels
authors.forename: J-L
authors.initials: JL
authors.lastname: Sadoul
authors.forename: S
authors.initials: S
authors.lastname: Hieronimus
authors.forename: F
authors.initials: F
authors.lastname: Brucker-Davis
mesh_terms: D000305:Adrenal Cortex Hormones / Q000097:blood / Q000235:genetics; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000175:diagnosis* / Q000601:surgery; D000314:Adrenal Rest Tumor / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D000328:Adult; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D053713:Azoospermia / Q000209:etiology; D014408:Biomarkers, Tumor; D003907:Dexamethasone / Q000627:therapeutic use; D003937:Diagnosis, Differential; D012739:Gonadal Steroid Hormones / Q000097:blood / Q000235:genetics; D006062:Gonadotropins / Q000097:blood; D006801:Humans; D007248:Infertility, Male / Q000209:etiology; D007984:Leydig Cell Tumor / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D008297:Male; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013736:Testicular Neoplasms / Q000150:complications* / Q000175:diagnosis* / Q000601:surgery; D013737:Testis / Q000473:pathology
chemical_list: D000305:Adrenal Cortex Hormones; D000893:Anti-Inflammatory Agents; D014408:Biomarkers, Tumor; D012739:Gonadal Steroid Hormones; D006062:Gonadotropins; D012333:RNA, Messenger; D003907:Dexamethasone