The XY Female (Androgen Insensitivity Syndrome)—Runs in the Family

The XY Female (Androgen Insensitivity Syndrome)-Runs in the Family.

Androgen insensitivity syndrome (AIS) was first described in details by Morris [1], who provided the descriptive terms—testicular feminization syndrome for this disorder, which is inherited as X-linked recessive disorder. The underlying pathology is the inability of the end organs to respond to androgens, either due to lack of androgen cytosol receptor or defect in the receptor. Genotypically t...

XY Female with Complete Androgen Insensitivity Syndrome with Bilateral Inguinal Hernia.

The complete androgen insensitivity syndrome, previously called testicular feminization syndrome, is an X-linked recessive rare disorder. The individual is phenotypically female and genotypically male: a male pseudohermaphrodite. The individuals are reared as girls and the condition is suspected when the individual is evaluated for primary amenorrhea, infertility, or when unilateral/bilateral i...

Complete Androgen Insensitivity Syndrome in Three Sisters

A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family

abnormalities. Therefore, the proband was confirmed to have AIS by clinical presentations, biochemistry, ultrasonography, and pathology. Genomic DNA was extracted from peripheral blood leukocytes using standard methods. All eight exons of AR were amplified by polymerase chain reaction (PCR) using appropriate primers designed by Primer Premier and Oligo (Premier Biosoft Co. Ltd., Palo Alto, Cali...

The XY female child.

It has been known for some years that apparently female patients are sometimes found to have an XY sex chromosome complement. Morris (1953) focused attention upon the syndrome of testicular feminization in which, despite the presence of XY sex chromosomes and testes, the phenotype and secondary sexual development are female. Harnden and Stewart (1959) applied the term pure gonadal dysgenesis to...