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 masculinizat...

A patient with primary amenorrhoea and absence of secondary sex characteristics was found to have a balanced X;3 translocation. This phenotype is reported in approximately one-third of the balanced X;autosome translocation cases. The normal X chromosome is inactive in the present case which is in agreement with most of the similar cases. A review of the 66 balanced X;autosome translocations rep...

Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although coexistence gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it still quite infrequent. To extent that authors searched, just one study reported association between Rokitansky sequence Dandy-Walker malformation. Clinical Prese...

Sweyers syndrome or pure gonadal dysgenesis is characterised by primary amenorrhea , presence of female phenotype, external genitalia and internal with hypoplastic uterus streak gonads. A 16 year old girl presented secondary amenorrhoea, she attained menarche at 11 years was followed 4 months regular cycles thereafter developed two amenorrhea. On examination phenotypically no sexual characteris...

background: translocations involving x chromosome and an autosome are rather rare due to associated infertility in men and subfertility in women. x chromosome translocations are frequently associated with primary or secondary amenorrhea. in this report, a case of primary amenorrhea with a de novo balanced reciprocal translocation was presented between chromosomes x and 1. case presentation: a 2...

Background: Amenorrhea is a condition where women do not experience menstruation or the cessation of menstrual cycles at reproductive age. divided into primary and secondary. Turner syndrome one example gonadal dysgensis that cause most common amenorrhea. It represented by absence all part normal second sex chromosome physical features including short stature, webbed neck, cubitus valgus, ptery...

Turner syndrome (TS) is the most common cause of short stature and delayed puberty in females. Approximately half patients have classic form with a genotype 45,XO, one-fourth different mosaic forms, remaining structural abnormalities on X chromosome. Among abnormalities, isochromosome Xq. Females variants TS can present menarche, amenorrhea, infertility rather than manifestations TS. This study...

Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still quite infrequent. To the extent that authors searched, just one study reported the association between Rokitansky sequence and Dandy-Walker malfor...

Although amenorrhea may result from a number of different conditions, a systematic evaluation including a detailed history, physical examination, and laboratory assessment of selected serum hormone levels can usually identify the underlying cause. Primary amenorrhea, which by definition is failure to reach menarche, is often the result of chromosomal irregularities leading to primary ovarian in...