Presentation of complete androgen insensitivity in two members of the same family with differing residual Müllerian tissue.
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.
"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. 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. CAIS patients exhibit female phenotype because of the insensitivity to the androgen receptor. "
[Show abstract][Hide abstract] 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.
Journal of Human Reproductive Sciences 04/2014; 7(2):148-50. DOI:10.4103/0974-1208.138875
[Show abstract][Hide abstract] 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).
A 12-year-old girl with negative past medical and family history, who presented with a 6-hour history of progressive left groin pain.
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.
Fertility and sterility 07/2009; 92(3):1169.e11-4. DOI:10.1016/j.fertnstert.2009.05.030 · 4.59 Impact Factor
[Show abstract][Hide abstract] 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.
Expert Review of Endocrinology & Metabolism 10/2009; 4(6):565-573. DOI:10.1586/eem.09.31
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