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: We present a patient with complete androgen insensitivity syndrome (CAIS) diagnosed with a serous papillary cystadenofibroma. A 41-year-old married female with a mass in the left inguinal region and a history of primary amenorrhea. A bulging mass of 13.7 cm × 8 cm × 12.4 cm in the left inguinal region extending from the hip joint to the level of labia majus, and a 3.2 cm × 2.8 cm mass in her right inguinal region were found by ultrasonography and magnetic resonance imaging. We performed bilateral gonadectomy. The pathology showed testicular tissue in the right inguinal mass and a serous papillary cystadenofibroma in the left one. CAIS is an infrequent clinical entity, occurrence of serous papillary cystadenofibroma is even rarer in this syndrome serous cystadenofibroma should come to mind in patients with a huge inguinal mass. Gonadectomy should be performed right after puberty to prevent the risk of malignancy development in the testes.
    Full-text · Article · Apr 2014 · Journal of Human Reproductive Sciences
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    ABSTRACT: To present a case of complete androgen insensitivity syndrome that initially presented as incarcerated inguinal hernia and to investigate the expression of antimüllerian hormone (AMH), SOX-9 (SRY-box-containing gene 9), prostaglandin D synthase (PGDS), and androgen receptors (AR). Case report. District hospital. A 12-year-old girl with negative past medical and family history, who presented with a 6-hour history of progressive left groin pain. Open gonadectomy. Immediate surgery, diagnosis, and referral to a multidisciplinary team for further management. Pathologic analysis revealed a left twisted and infarcted testicle, and a normal right one containing immature seminiferous tubules with a decreased number of spermatogonia. Immunohistochemical analysis revealed strong cytoplasmic and nuclear expression of AMH and SOX-9, respectively, by the Sertoli cells as well as focal weak cytoplasmic PGDS expression. The spermatogonia showed focal weak nuclear PGDS expression. The Leydig cells showed no immunoreactivity at all. No AR immunoreactivity was observed. Negative AR immunostaining could either reflect Sertoli-cell immaturity or a mutation resulting in no protein production. The AMH immunodetection, consistent with its high serum levels, could potentially reflect Sertoli-cell immaturity. The SOX-9 nuclear detection in the Sertoli cells was consistent with its role, inducing male sex differentiation, including AMH expression. The nuclear localization of PGDS in the spermatogonia needs further investigation.
    Full-text · Article · Jul 2009 · Fertility and sterility
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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.
    No preview · Article · Aug 2009 · Ultrasound
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