A rare cause of hypertestosteronemia in a 68-year-old patient: a Leydig cell tumor due to a somatic GNAS (guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1)-activating mutation.

Détails

ID Serval
serval:BIB_1AC106480FD0
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
A rare cause of hypertestosteronemia in a 68-year-old patient: a Leydig cell tumor due to a somatic GNAS (guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1)-activating mutation.
Périodique
Journal of Andrology
Auteur(s)
Libé R., Fratticci A., Lahlou N., Jornayvaz F.R., Tissier F., Louiset E., Guibourdenche J., Vieillefond A., Zerbib M., Bertherat J.
ISSN
1939-4640 (Electronic)
ISSN-L
0196-3635
Statut éditorial
Publié
Date de publication
2012
Volume
33
Numéro
4
Pages
578-584
Langue
anglais
Notes
Publication types: Case Reports
Résumé
Leydig cell tumors of the testis are the most common type of non-germ cell testicular tumors. In adult patients, gynecomastia, oligozoospermia, erectile dysfunction, and other signs of feminization can be present, whereas testosterone levels are frequently in the normal range or slightly reduced. We describe a patient with a history of impaired sexual function, as well as progressive enlargement of the left testis, without gynecomastia. Hormonal evaluation demonstrated very high testosterone, estrogen, and pan-alpha-inhibin levels. Magnetic resonance imaging revealed the presence of left testicular hypertrophy without evidence of testicular mass. After left orchiectomy, histologic examination confirmed the diagnosis of Leydig cell tumor, and steroid hormone levels normalized. A heterozygous missense somatic gsp mutation (R201C) was found in tumoral tissue, whereas no mutation was found in the surrounding normal tissue or in leukocyte DNA. This case provides evidence that somatic activating gsp mutation in Leydig cells may result in tumor development, leading to overexpression of the inhibin alpha subunit and hyperactivity of the testosterone biosynthetic pathway.
Mots-clé
Aged, Estradiol/blood, GTP-Binding Protein alpha Subunits, Gs/blood, GTP-Binding Protein alpha Subunits, Gs/genetics, Humans, Inhibins/blood, Leydig Cell Tumor/genetics, Leydig Cell Tumor/pathology, Male, Mutation, Missense, Orchiectomy, Testicular Neoplasms/genetics, Testicular Neoplasms/pathology, Testosterone/blood
Pubmed
Web of science
Open Access
Oui
Création de la notice
10/09/2015 12:22
Dernière modification de la notice
20/08/2019 12:51
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