A case of bilateral Sertoli cell adenoma in androgen insensitivity syndrome
Abstract
Androgen insensitivity syndrome, previously referred to as testicular feminization syndrome, is an X-linked recessive disorder that is characterized by a mutation in the q11-q12 region of the X chromosome, which results in a deformed androgen receptor gene. Patients with androgen insensitivity syndrome may develop testicular tumors, especially seminomas after puberty. A 35-year-old female patient presented with the complaint of primary amenorrhea and had masses of approximately 4 cm size palpated in the bilateral inguinal regions. The masses were excised and the histopathological examination was reported as bilateral Sertoli cell adenoma. Although the risk of bilateral gonadal tumor development is low in patients with androgen insensitivity syndrome, such malignancies should not be disregarded.
Keywords
References
- Siminas S, Kokai G, Kenny SE. Complete androgen insensitivity syndrome associated with bilateral Sertoli cell adenomas and paratesticular leiomyomas: Case report and review of the literature. J Pediatr Urol 2013;9(1):31-4.
- Hughes IA, Deeb A. Androgen resistance. Best Pract Res Clin Endocrinol Metab 2006;20(4):577-98
- Baksu A, Kabukcuoglu F, Baksu B, Goker N. Bilateral Sertoli cell adenoma and serous cyst in a patient with androgen insensitivity syndrome. Europ Jour of Obst and Gynand Reproductive Biol 2004;114(1):104-7.
- Cools M, Drop SLS, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH. Germ cell tumours in the intersex gonad: Old paths, new directions, moving frontiers. Endocr Rev 2006;27(5):468-84.
- Boehmer AL, Brinkmann O, Brüggenwirth H, et al. Genotype versus phenotype in families with androgen insensitivity syndrome. J Clin Endocrinol Metab 2001;86(9):4151-60.
- Fallat ME, Donahoe PK. Intersex genetic anomalies with malignant potential. Curr Opin Pediatr 2006;18(3):305-11.
- Bouvattier C. Androgen receptor defects: Syndromes of androgen insensitivity. Disorders of sex development: endocrine aspects. In: Gearhart, Rink, Mouriquand, editors. Pediatric Urology. 2nd ed. Philadelphia: Saunders Elsevier; 2010:472-3.
- Slijper FM, Frets PG, Boehmer AL, Drop SL, Niermeijer MF. Androgen insensitivity syndrome(AIS): Emotional reactions of parents and adult patients to clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis. Horm Res 2000;53(1):9-15.
Details
Primary Language
English
Subjects
Health Care Administration
Journal Section
Case Report
Authors
Zeynep Öztürk İnal
*
Konya Training and Research Hospital, Clinic of Obstetrics and Gynecology, Konya
0000-0002-8766-2079
Türkiye
Nursadan Gergerlioğlu
Konya Training and Research Hospital, Clinic of Pathology, Konya
0000-0003-3637-8710
Türkiye
İlknur Küçükosmanoğlu
Konya Training and Research Hospital, Clinic of Pathology, Konya
0000-0002-5181-6152
Türkiye
Meryem İlkay Karanis
Konya Training and Research Hospital, Clinic of Pathology, Konya
0000-0002-1097-4592
Türkiye
Publication Date
September 1, 2017
Submission Date
August 2, 2016
Acceptance Date
August 31, 2016
Published in Issue
Year 2017 Volume: 56 Number: 3