Phenotypic Variation in Patients with Partial Androgen Insensitivity Syndrome

Phenotypic diversity in siblings with partial androgen insensitivity syndrome.

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 virilisation. A point m...

Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome.

The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be seen. Two cousins of a previously rep...

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...

Complete Androgen Insensitivity Syndrome in Three Sisters

laparoscopic gonadectomy in patients with androgen insensitivity syndrome: case series

background the gonadectomy in patients with androgen insensitivity syndrome (ais) has been conventionally performed using laparotomic techniques. but currently several reports have suggested laparoscopic gonadectomy in these patients because of shorter hospital stay and minimal postoperative pain and hemorrhage. objective to report the laparoscopic gonadectomy in 11 patients suffering from andr...