Premature Ovarian Failure (POF) defined as functional stop of ovaries before the age of 40. It is a common cause of infertility in women that characterized by primary or secondary amenorrhea, high gonadotropin levels and estrogen level declining in patients. Factors that reduce follicle or defect in the follicle growth stimulating mechanism defined as numerous complication factors that they can...

Turner syndrome (TS) is a rare genetic disease that occurs only in girls and the result of complete or partial absence X chromosome. TS has often delayed diagnosis late childhood adolescent age rarely identified during neonatal period. The clinical features are primary amenorrhea, short stature, infertility, characteristic dysmorphic features. Late main problem because early detection appropria...

Abstract Background Much interest has not been placed on the role of chromosomal abnormalities in pathogenesis and rising prevalence infertility recent times. This review was conducted to renew public basis infertility, testing, management. Main text Meiotic post-zygotic mitotic errors may cause infertility-predisposing abnormalities, including Klinefelter syndrome, Jacob Triple X Turner Down s...

Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder that includes individuals with manifestations ranging from primary amenorrhea to loss of menstrual function prior to age 40. POF presents as hypergonadotropic hypogonadism and can be part of a syndrome or occur in isolation. Here, we studied 3 sisters with primary amenorrhea, hypothyroidism, and hypergona...

Triple X syndrome 47XXX is a sex chromosome abnormality characterized by presence of an extra X chromosome. Most of the girls born with triple X chromosomes have no signs or symptoms at birth. The condition often remains undiagnosed until adulthood when the genetic defect is discovered on investigation for other reasons as in this case of a young girl who presented with primary amenorrhoea. Cli...

abstract chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. although x-autosome translocations are frequently associated with streak gonads and clinical features of the turner syndrome, the majority of x-autosome carriers may present with a variable phenotype, developmental delay, and recognizable x-linked syndrome...

Pituitary causes of amenorrhea should be considered in women with low or normal gonadotropin levels. Pituitary causes of amenorrhea constitute 18% of cases of secondary amenorrhea and 7% of cases of primary amenorrhea (1). Hyperprolactinemia is the most common cause of pituitary amenorrhea, comprising 15% of all cases of secondary amenorrhea and 80% of pituitary cases of secondary amenorrhea (2...

A 17-year old female has been referred for karyotyping and genetic counseling. Proband had primary amenorrhea, short stature and poorly developed secondary sexual characteristics. Ultrasound scanning showed hypoplastic uterus and gonadal dysgensis. Chromosomal analysis revealed the mosaic status for the isochromosome formation in the long arm of X, i(Xq). Proband had 3 cell lines. Her karyotype...