Biology & Genetic
Narjes Soltani; Farzaneh Mirzaei; Hossein Ayatollahi
Abstract
Background & Objective: Primary amenorrhea refers to the absence of menstruation in females of reproductive by age 16 when the development of secondary sexual characteristics is evident (breast development, pubic hair) or by age 14 when there are no secondary sexual characteristics are present. Primary ...
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Background & Objective: Primary amenorrhea refers to the absence of menstruation in females of reproductive by age 16 when the development of secondary sexual characteristics is evident (breast development, pubic hair) or by age 14 when there are no secondary sexual characteristics are present. Primary amenorrhea can occur in several quite different reasons. Common hormonal causes of primary amenorrhea include constitutional delay, hypothalamic or pituitary disorders, chronic systemic disease, and primary ovarian insufficiency, some endocrine gland disorders, and other causes. Previous studies suggested that chromosomal abnormality is the second most common cause of amenorrhea. This report aims to measure the prevalence of the chromosomal abnormality in primary amenorrhea (PA) patients in the northeast of Iran.Methods: Chromosomal study was carried out on 200 patients with clinical features. The standard method for culturing peripheral venous blood lymphocyte was to prepare metaphase chromosomes and perform routine GTG band analysis.Results: The results revealed that 71% of PA had normal female karyotype (46,XX) and 29% showed different chromosomal abnormalities. The chromosomal abnormalities can be categorized into seven primary groups with or without mosaicism. 1- The most common karyotype was X chromosome aneuploidy (10.5%, n=21), 2- Male karyotype with or without structural abnormality of Y chromosome (5.5 %, n=11), 3- Mosaicism of turner karyotype and structural anomalies of X chromosome (4%, n=8), 4- Structural anomalies of the X chromosome (3.5%, n=7), 5- Mosaicism of turner karyotype and normal karyotype (3%, n=6), 6- Mosaicism of turner karyotype and male karyotype (1.5%, n=3) and 7- Super female karyotype (1%, n=2).Conclusion: The present study has emphasized that early cytogenetic and timely investigation can be necessary for the evaluation of primary amenorrhea.
Hossein Ayatollahi; Akbar Safaei; Mohammad Vasei
Volume 5, Issue 3 , June 2010, , Pages 121-126
Abstract
Background and Objectives: Primary amenorrhea is not a disease but a symptom that may result from several quite different causes[NN1] . Common hormonal cause of primary amenorrhea includes constitutional delay, hypothalamic –pituitary dysfunction, chronic systemic disease and absent ...
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Background and Objectives: Primary amenorrhea is not a disease but a symptom that may result from several quite different causes[NN1] . Common hormonal cause of primary amenorrhea includes constitutional delay, hypothalamic –pituitary dysfunction, chronic systemic disease and absent ovarian function. The aim of this study was to estimate the incidence of the chromosomal abnormality referred for karyotyping in patients with primary amenorrhea in southwest of Iran. Material and Methods: Chromosomal analysis was carried out in 220 such cases that were referred from different parts of the south of Iran. The standard protocol for peripheral blood lymphocyte culture was followed for metaphase chromosome preparation and conventional analysis of G-banded chromosome. Results: The frequency of abnormal karyotypes was 20% in primary amenorrhea. The chromosomal abnormalities can be classified into five main types with or without mosaicism. 1-The most frequent karyotype was X chromosome aneuploidies (10%,n=22) 2-Male karyotype 46, XY was present in 5.5 % (n=12). 3-Structural anomalies of the X chromosome were detected in 3.2% (n=7) . 4-Mosaicism of male chromosome constitution and X chromosome aneuploidy was present in two (0.9%) cases (45XO/46XY). 5-Mosaicism of X chromosome aneuploidy and structural anomalies of X chromosome was found in one (0.45%) case [45, X/46X, i (Xq)]. Conclusion: The present study has emphasized that karyotyping is necessary in evaluation of primary amenorrhea. This study also revealed the incidence of chromosomal abnormalities in women with primary amenorrhea in southwest of Iran is similar to that reported in previous literatures. [NN1]File Format: PDF/Adobe Acrobat - Quick View by SК Ten - 1990 - Cited by 5 - Related articles Primary amenorrhea is not a disease but a symptom that may result from several quite different causes. These include such conditions as endocrinological ... smj.sma.org.sg/3104/3104a13.pdf - Similar
