Cytogenetic Study of Patients with Primary Amenorrhea in the Northeast of Iran

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 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.

Cytogenetic screening of chromosomal abnormalities and genetic analysis of FSH receptor Ala307Thr and Ser680Asn genes in amenorrheic patients

“…Short stature and delayed puberty, and lack of incidence of secondary sexual characteristics were significant clinical symptoms amongst these patients. This result was in line with previous studies, which reported that TS is the most commonly observed CA in PA, and also strengthened the role of the sex chromosome in the reproduction of females [17,25,28]. In this study, out of 30 cases of SA, two (6.6%) revealed a variety of CA.…”

Delayed Puberty in Girls with Primary Amenorrhea: A Report of Cases

“…18 According to previous studies, primary amenorrhea due to chromosomal abnormalities was reported varied from 15.9% to 63.3% and turner syndrome either 45,X or its mosaic form is the leading cause of primary amenorrhea. 11 A comprehensive family history and physical examination and laboratory testing of affected individuals are required for diagnosis. The clinicians should inquire about the height, weight and body mass index of those with delayed puberty since they may present with short stature.…”

“…Primary amenorrhea (PA) is defined as lack of menarche or absence of menstruation in females of reproductive by age 16 when the development of secondary sexual characteristic is evident (breast development, pubic hair) or by age 14 when there are no secondary sexual characteristics are present. 11 PA is one of the most common reasons of obstetric-gynaecologic consultation in adolescent girls. The primary amenorrhea is categorized into functional or anatomic defect of hypothalamus, pituitary, uterus or ovaries, and genetic defect at chromosomal or molecular level.…”

Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants

“…Primary amenorrhea as the common symptom has a complicated etiology, and genetic disorders are non‐negligible. Copy number variants and abnormal structure of the X chromosome even XY karyotype have been reported in females with primary amenorrhea, showing that early cytogenetic is necessary for the evaluation of primary amenorrhea 1 . However, some genetic diseases could lead to primary amenorrhea caused by gonadal digenesis or hypogonadism, such as congenital adrenal hyperplasia (CAH), 2 Kallmann syndrome (KS), 3 Swyer syndrome, 4 Frasier syndrome, and so on 5 …”

“…Copy number variants and abnormal structure of the X chromosome even XY karyotype have been reported in females with primary amenorrhea, showing that early cytogenetic is necessary for the evaluation of primary amenorrhea. 1 However, some genetic diseases could lead to primary amenorrhea caused by gonadal digenesis or hypogonadism, such as congenital adrenal hyperplasia (CAH), 2 Kallmann syndrome (KS), 3 Swyer syndrome, 4 Frasier syndrome, and so on. 5 KS (OMIM 308700) is a rare inherited disease characterized by the combination of isolated hypogonadotropic hypogonadism (IHH) and anosmia.…”