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Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt.
Indian J Hum Genet ; 2012 May; 18(2): 183-186
Article in English | IMSEAR | ID: sea-143268
ABSTRACT

Background:

Primary amenorrhea is defined as the absence of menstruation and secondary sexual characteristics in phenotypic women aged 14 years or older. Hormonal disorders are main causes of primary amenorrhea. Common hormonal cause of primary amenorrhea includes pituitary dysfunction and absent ovarian function. The aim of this study was to estimate the incidence and types of chromosomal abnormalities in patients with primary amenorrhea in Egypt. Materials and

Methods:

Chromosomal analysis and hormonal assay were carried out on 223 patients with primary amenorrhea that were referred from different parts of Egypt to Cytogenetic laboratory of Genetic Unit, Children Hospital Mansoura University, from July 2008 to December 2010. FISH technique was carried out in some of cases to more evaluation.

Results:

The frequency of chromosomal abnormalities was 46 (20.63%) in primary amenorrhea patients. The chromosomal abnormalities can be classified into four main types. (1) The numerical abnormalities of the X chromosome were detected in 23 (50 %). (2) Structural abnormalities of the X chromosome were detected in 11 (23.91%). (3) Mosaicism of X chromosome was found in 10 (21.74%). (4) Male karyotype 46, XY was presented in 2 (4.35%).

Conclusion:

The present study showed that karyotype and FISH are necessary to detect the causes of primary amenorrhea. This study also revealed the incidence of chromosomal abnormalities in women with primary amenorrhea in Egypt is similar to that reported in previous literatures.
Subject(s)

Full text: Available Index: IMSEAR (South-East Asia) Main subject: Disorders of Sex Development / Female / Humans / Chromosome Aberrations / In Situ Hybridization, Fluorescence / Chromosomes, Human, X / Egypt / Karyotype / Amenorrhea Country/Region as subject: Africa Language: English Journal: Indian J Hum Genet Year: 2012 Type: Article

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Disorders of Sex Development / Female / Humans / Chromosome Aberrations / In Situ Hybridization, Fluorescence / Chromosomes, Human, X / Egypt / Karyotype / Amenorrhea Country/Region as subject: Africa Language: English Journal: Indian J Hum Genet Year: 2012 Type: Article