Unilateral testicular tumour associated to congenital adrenal hyperplasia: Failure of specific tumoral molecular markers to discriminate between adrenal rest and leydigioma
| Autor: | J.-F. Michels, D. Chevallier, J.-L. Sadoul, Sylvie Hiéronimus, B. Bständig, F. Brucker-Davis, C. Roger, Patrick Fénichel |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Infertility endocrine system medicine.medical_specialty Pathology Endocrinology Diabetes and Metabolism Anti-Inflammatory Agents Testicle Biology Dexamethasone Diagnosis Differential Endocrinology Testicular Neoplasms Adrenal Cortex Hormones Internal medicine Testis Gene expression Biomarkers Tumor medicine Adrenal insufficiency Adrenal Rest Tumor Humans ACTH receptor Congenital adrenal hyperplasia RNA Messenger Gonadal Steroid Hormones Infertility Male Azoospermia Adrenal Hyperplasia Congenital Reverse Transcriptase Polymerase Chain Reaction General Medicine Hyperplasia medicine.disease medicine.anatomical_structure Gonadotropins Leydig Cell Tumor |
| Zdroj: | Annales d'Endocrinologie. 69:453-458 |
| ISSN: | 0003-4266 |
| DOI: | 10.1016/j.ando.2008.05.002 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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