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 masculinizati...

BACKGROUND McCune Albright syndrome is rare with an estimated prevalence of 1 in 100,000 to 1 in 1,000,000 persons. The classical clinical triad consists of fibrous dysplasia of the bone, café-au-lait skin spots and precocious puberty. However, in rare cases, there may be primary hypogonadism and amenorrhea. CASE PRESENTATION An eighteen-year-old female presented with amenorrhea. She had a sh...

Ovarian dysfunction before the age of 40 years, characterized by hypergonadotropic hypogonadism and presenting with either primary or secondary amenorrhea, is called primary ovarian insufficiency (POI). POI has a significant genetic component, but the specific genetic cause is often unknown. A novel candidate gene for POI, PSMC3IP, has recently been identified. The aim of this study was to inve...

Swyer syndrome is a type of pure gonadal dysgenesis correlating with 46 XY karyotype, primary amenorrhea, and female internal and external genitalia. It reveals a testicular differentiation abnormality.A 16-year old girl admitted to our center with primary amenorrhea and abdominal mass. In spite of the absence of normal testis, clitoromegaly was noticed. Peripheral blood karyotype analysis show...

OBJECTIVE To study the frequency of the chromosomal abnormality (CA), referred for karyotyping, and counseling in individuals with primary amenorrhea (PA) and secondary amenorrhea (SA). METHODS We report on a retrospective survey of 865 women with amenorrhea (620-PA and 245-SA) at the Division of Human Genetics, Department of Anatomy, St. John's Medical College, Bangalore, India from 1973 to ...