Androgen insensitivity syndrome, a case report and literature review

Androgen insensitivity syndrome: a case report.

This report refers to a rare case of complete androgen insensitivity syndrome that had presented at the age of 35 years with complaint of abdominal mass, primary amenorrhea and infertility to Jimma University Hospital. A well-developed breast with absence of axillary and pubic hair was seen on examination. There was also an abdominal mass arising from the pelvis occupying the hypogastric and ri...

Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report

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 ...

McCune-Albright Syndrome: A Case Report and Literature Review

McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities.  We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...

Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review.

Kennedy's disease, also known as bulbospinal muscular atrophy, is a rare, X-linked recessive neurodegenerative disorder affecting adult males. It is caused by expansion of an unstable cytosine-adenine-guanine tandem-repeat in exon 1 of the androgen-receptor gene on chromosome Xq11-12, and is characterized by spinal motor neuron progressive degeneration. Endocrinologically, these patients often ...

Complete Androgen Insensitivity Syndrome in Three Sisters