Discordant Measures of Androgen-Binding Kinetics in Two Mutant Androgen Receptors Causing Mild or Partial Androgen Insensitivity, Respectively1

Complete Androgen Insensitivity Syndrome in Three Sisters

Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia

Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation...

Partial Androgen Insensitivity Syndrome: A rare disease

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...

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...

Complete Androgen Insensitivity Syndrome.

The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. People with CAIS are normal appearing females, despite the presence of testes and a 46, XY chromosome constitution. We came across a case in which a 17 years old girl presented with the complaint of inguinal hernia and amenorrhea. Subsequent investigations were done revealing absence of female internal genita...