the androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. the primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. this prevents normal androgen action and thus leads to impaired virilization. a point m...

introduction women with mosaic turner syndrome (ts) bearing the presence of y chromosome material or with complete androgen insensitivity syndrome (cais) is at risk of gonadal malignancy. two patients with characteristic features of these uncommon disorders are reported, and the surgical techniques of laparoscopic gonadectomy are reviewed and discussed. the aim of the present study is to report...

introduction: complete androgen insensitivity syndrome (previously called testicular feminization) is specified by a 46 xy karyotype and negative sex chromatin, bilateral undescended testes, female genitalia appearance, and lack of mullerian derivatives. discussion: our medline search revealed that this is the first reported case of bilateral sertoli–leydig cell tumor (slct) in androgen insensi...

Androgen insensitivity syndrome is a rare disease, manifested as normal female external phenotype to infertile male with 46 XY karyotype due to different level of resistance of androgen receptor. Androgen insensitivy syndrome is classified as complete, partial and mild androgen insensitivity. Partial androgen insensitivity syndrome is further subclassified according to morphogenesis as predomin...

background: androgen insensitivity syndrome (ais) or testicular feminization is a partial or complete inability of cell response to androgen. the cause is enzymatic defect in synthesis of testosterone, resulting sexually immature phenotypically female, with primary amenorrhea. there are three categories of ais, complete, partial and mild, depending on the degree of external genital masculinizat...

The complete form of androgen insensitivity syndrome (testicular feminization) occurs in a 46,XY karyotype with a mutant X-linked recessive gene that is responsible for the androgen intracellular receptor [l]. An individual with androgen insensitivity syndrome is a male pseudohermaphrodite. Phenotypic characterizations include scanty or absent axillary and pubic hair, slight vulvar hair, a rudi...

Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia of normal female. In this manuscript, we describe nine year old child diagnosed at three years age with Autoimmune Polyendocrine type-1 (APS-1). The was female no hernia. Parents initially declined any endocrine disorder in family. Genetic study, which...

Testicular feminization, or the androgen insensitivity syndrome, is a rare disease. Because of various abnormalities of the X chromosome, a male, genetically XY, has some physical characteristics of a woman or a full female phenotype. Indeed the androgen insensitivity syndrome occurs because of a resistance to the actions of the androgen hormones, which in turn switches the development towards ...