Case of sisters with complete androgen insensitivity syndrome and discordant Mullerian remnants. Fertil Steril 91(3):932.e15-932.e18

Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Geisinger Medical Center, Geisinger Health System, Danville, Pennsylvania 17822, USA.
Fertility and sterility (Impact Factor: 4.59). 11/2008; 91(3):932.e15-8. DOI: 10.1016/j.fertnstert.2008.09.027
Source: PubMed


Presentation of complete androgen insensitivity in two members of the same family with differing residual Müllerian tissue.
Case report.
Rural hospital setting.
Two siblings with 46,XY karyotype and female phenotype presented at different points in time with primary amenorrhea. Laparoscopy of sister 1 revealed bilateral elongated gonads and remnants of uterine tissue. Laparoscopy of sister 2 demonstrated both gonads, but no uterus was identified.
Sister 1: bilateral gonadectomy and hysterectomy. Sister 2: bilateral gonadectomy.
Gonadectomy for cancer prophylaxis, counseling in affected/unaffected family members.
Sister 1: pathology revealed portions of immature testicles and fragments of smooth muscle. Sister 2: pathology reported two testicular and epididymal-like structures with benign Sertoli cell adenomas entirely in testicular parenchyma.
This case demonstrates the presentation and laparoscopic photos of complete androgen insensitivity syndrome discovered in two siblings. Both girls are genotypically male, but differ in the presence of vestigial Müllerian tissue. This case demonstrates that siblings with androgen resistance may express varying amounts of Müllerian tissue.

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    • "CAIS is the most common form of male pseudohermaphroditism and is a sex-linked recessive inherited disorder caused by a mutation in the androgen receptor gene located at Xq11-q12.[2] Subsequently, Wolffian duct development and male external genitalia differentiation do not occur correctly, and the Mullerian ducts regress due to the presence of anti-Mullerian hormone produced by the sertoli cells of normally developed gonads. In approximately one third of patients, residual Mullerian structures exist.[3] CAIS patients exhibit female phenotype because of the insensitivity to the androgen receptor. "
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    ABSTRACT: Complete androgen insensitivity syndrome (CAIS) is a rare and complicated endocrine condition in which individuals inherit a female phenotype but a male karotype of 46XY. It occurs as a result of a defect on the X chromosome inhibiting the effect of androgens during embryological development. Although magnetic resonance imaging is considered the gold standard imaging technique in cases of CAIS, these patients will often present in the ultrasound department with primary amenorrhoea. This case highlights both the value and limitations of ultrasound in such circumstances. Also considered are the many complex and sensitive issues involved, and the multi-disciplinary approach required, in the treatment of individuals diagnosed with CAIS.
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