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- Title
Bilateral Sertoli-Leydig cell tumor in a patient with complete androgen insensitivity syndrome: a case report and brief review of the literature.
- Authors
Cezarin Todea, Viorel Renato; Nichita, Margit; Cîşlariu, Diana Elena; Nechiforiuc, Irina-Ioana; Clinciu, Ioana Delia
- Abstract
Introduction. Complete androgen insensitivity syndrome (46XY) with female phenotype is characterized by: well developed breasts, absent uterus and ovaries, short vagina, intra-abdominal testicles and also absent pubic and axillary hair. The cause is a mutation of the androgen receptor gene, located on the proximal long arm of the X chromosome (Xq11-120), which prevents the receptors and their ligands, including testosterone, to function properly. Case. We report the case of a 40-year-old woman with primary amenorrhea and infertility problems who presented to the doctor after discovering two pelvic tumors. The diagnosis was complete androgen insensitivity syndrome with bilateral Sertoli- Leydig cell tumor and was based on the clinical features, histology exams and genetic result. Conclusions. Intra-abdominal testes have a great risk of malignant transformation. Sertoli-Leydig cell tumors represent a rare entity, but being associated with the androgen insensitivity syndrome, they can appear in up to 80% of the cases. Genetic tests are of particular importance in sports selection and athletic performances in female athletes.
- Subjects
SERTOLI cell tumors; LEYDIG cell tumors; ANDROGEN-insensitivity syndrome
- Publication
Palestrica of the Third Millennium Civilization & Sport, 2018, Vol 19, Issue 2, p106
- ISSN
1582-1943
- Publication type
Case Study
- DOI
10.26659/pm3.2018.19.2.106