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 an X-linked genetic disorder affecting 46,XY individuals, characterized by the loss of function of the androgen receptor gene resulting in complete peripheral androgen resistance. Patients have a nonambiguous female phenotype with normal female external genitalia. Gonads are undescended testes (either intra-abdominal or inguinal), there is no uterus and the length of the vagina is usually very short. Gender identity is always female. This review focuses on the importance of accurate diagnosis of CAIS versus partial androgen insensitivity syndrome and other disorders of sex development by genotyping the androgen receptor, and raises issues of the optimal management of these patients. In the era of the Consensus Statement on Management of Intersex Disorders, we provide new insights into CAIS screening, surgical management of the gonads (balancing between hormonal production and malignancy risk) and of vaginal adequacy, and the ethics concerned with the disclosure to patients and their families.
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