ABSTRACT
The Complete testicular feminization syndrome is a hereditary syndrome characterized clinically by female phenotype with 46, XY karyotype and bilateral testes. There is a congenital insensitivity to androgens, transmitted by means of a maternal X-linked recessive gene responsible for the androgen intracellular receptor. Therefore, androgen induction of Wolffian duct development does not occur. However, anti-mullerian hormone activity is present and the individual does not have mullerian development. Principle of treatment is reinforced to live normal female life. This is a case report of testicular feminization syndrome with rudimentary salpinx with the brief review of literatures.
Subject(s)
Female , Humans , Male , Androgen-Insensitivity Syndrome , Androgens , Anti-Mullerian Hormone , Fallopian Tubes , Genes, Recessive , Karyotype , Phenotype , Testis , Wolffian DuctsABSTRACT
Testicular feminization is an uncommon genetic disorder with considerably familial predisposition and results in total feminization due to end-organ unresponsiveness to androgens. It is characterized by the presence of testes in phenotypically female with adequate breast development, normal extemal genitalia, absence of mullerian structures, and meager or absence of body hair. These patients characteristically have male karyotype(XY) and negative sex chromatin and are at increased risk of undergoing malignant transformation of the undescended gonad. In recent times, the malignant potential of the dysgenetic gonads in the intersex patients with a Y chromosome has been stressed by many authors, but few reports of an association between testicular feminization syndrome and benign tumors such as Sertoli cell adenomas. In the present study, postoperative pathology revealed that the gonads were Sertoli cell adenomas. The main features of clinical presentation and histological studies are briefly discussed with a review of the literature.