Hamartomatous nodule, sertoli cell adenoma in complete androgen insensitivity syndrome with Wolffian/Müllerian duct remnants: An unusual case report
Keywords:
Complete androgen insensitivity syndrome, Gonads, Hamartoma, Müllerian, Wolffian.
Abstract
Complete Androgen insensitivity syndrome is a disorder of hormone resistance characterized by a female phenotype with an XY karyotype and testes producing age-appropriate normal or higher concentrations of androgens. 26 year old unmarried phenotypically female presented with left inguinal swelling and never consulted for amenorrhea. MRI finding revealed bilateral inguinal masses, uterus cervix not visualized and hypoplatic vagina was noted. She had advised karyotyping which was 46 XY. Hormonal investigation showed testosterone, estradiol and LH was increase and FSH was within normal limits. Patient underwent laparoscopic bilateral gonadectomy with left open hernia repair. Histopathology examination revealed hamartomatous nodule, sertoli cell adenoma, leydig cell hyperplasia, which are more pronounced as age advances as result of absent activity of androgen. Fallopian tube, underdeveloped vas deference, Wolffian/ Müllerian cysts lined by cuboidal epithelium was also noted which may be reminiscent of Wolffian/ Müllerian structure. IHC revealed PLAP and CD 117 which were negative. The clinical, MRI, laboratory and histopathology findings confirmed diagnosis of complete androgen insensitivity syndrome. DOI: 10.21276/APALM.1132 Key words: Complete androgen insensitivity syndrome, Gonads, Hamartoma, Müllerian, Wolffian.References
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10. Damiani D, Mascolli M, Almeida M, Jaubert F, Fellous M, Dichtchekenian V et al. Persistence of Mullerian Remnants in Complete Androgen Insensitivity Syndrome. Journal of Paediatric Endocrinology and Metabolism. 2002;15(9):1553-1556.
11. Boehmer A, Brüggenwirth H, Van Assendelft C, Otten B, Verleun-Mooijman M, Niermeijer M et al. GenotypeversusPhenotype in Families with Androgen Insensitivity Syndrome. The Journal of Clinical Endocrinology & Metabolism. 2001;86(9):4151-4160.
12. Kaprova-Pleskacova J, Stoop H, Brüggenwirth H, et al. Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology. Modern Pathology. 2014;27(5):721-30.
13. Cools M, Drop S, Wolffenbuttel K, Oosterhuis J, Looijenga L. Germ Cell Tumours in the Intersex Gonad: Old Paths, New Directions, Moving Frontiers. Endocrine Reviews. 2006;27(5):468-484.
14. Schmitt S, Knorr D, Schwarz H, Kuhnle U. Gonadotropin regulation during puberty in complete androgen insensitivity syndrome with testicles in situ. Hormone Research. 1994;42(6):253-256.
2. Nichols J, Bieber E, Gell J. Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants. Fertility and Sterility. 2009;91(3):932.e15-932.e18.
3. Chen C, Chen S, Wang T, Wang W, Hwu Y. A frame shift mutation in the DNA-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent müllerian structures, and germ cell tumours in dysgenetic gonads. Fertility and Sterility. 1999;72(1):170-173.
4. D Farhud D, Zarif Yeganeh M, Sadighi H, Zandvakili S. Testicular Feminization or Androgen Insensitivity Syndrome (AIS) in Iran: a Retrospective Analysis of 30-Year Data. Iranian Journal of Public Health. 2016;45(1):1-5.
5. Bangsbøll S, Qvist I, Lebech P, Lewinsky M. Testicular feminization syndrome and associated gonadal tumours in Denmark. Acta Obstetricia et Gynecologica Scandinavica. 1992;71(1):63-66.
6. Quigley C, Bellis A, Marschke K, El-Awady M, Wilson E, French F. Androgen Receptor Defects: Historical, Clinical, and Molecular Perspectives. Endocrine Reviews. 1995;16(3):271-321.
7. Rutgers J, Scully R. The Androgen Insensitivity Syndrome (Testicular Feminization). International Journal of Gynaecological Pathology. 1991;10(2):126-144.
8. Heller D, Ranzini A, Futterweit W, Dottino P, Deligdisch L. Müllerian remnants in complete androgen insensitivity syndrome. International journal of fertility. 1992;37(5):283.
9. Ulloa-Aguirre A, Mendez J, Chavez B, Carranza-Lira S, Angeles A, Perez-Palacios G. Incomplete regression of Müllerian ducts in the androgen insensitivity syndrome. Fertility and Sterility. 1990;53(6):1024-1028.
10. Damiani D, Mascolli M, Almeida M, Jaubert F, Fellous M, Dichtchekenian V et al. Persistence of Mullerian Remnants in Complete Androgen Insensitivity Syndrome. Journal of Paediatric Endocrinology and Metabolism. 2002;15(9):1553-1556.
11. Boehmer A, Brüggenwirth H, Van Assendelft C, Otten B, Verleun-Mooijman M, Niermeijer M et al. GenotypeversusPhenotype in Families with Androgen Insensitivity Syndrome. The Journal of Clinical Endocrinology & Metabolism. 2001;86(9):4151-4160.
12. Kaprova-Pleskacova J, Stoop H, Brüggenwirth H, et al. Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology. Modern Pathology. 2014;27(5):721-30.
13. Cools M, Drop S, Wolffenbuttel K, Oosterhuis J, Looijenga L. Germ Cell Tumours in the Intersex Gonad: Old Paths, New Directions, Moving Frontiers. Endocrine Reviews. 2006;27(5):468-484.
14. Schmitt S, Knorr D, Schwarz H, Kuhnle U. Gonadotropin regulation during puberty in complete androgen insensitivity syndrome with testicles in situ. Hormone Research. 1994;42(6):253-256.
Published
2017-05-29
Issue
Section
Case Report
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