A study on chromosomal analysis of patients with primary amenorrhea

Pal, Asoke K; Ambulkar, Prafulla S; Sontakke, Bharat; Talhar, Shweta; Bokariya, Pradeep; Gujar, Vijay

doi:10.4103/jhrs.jhrs_125_17

Cited by 13 publications

(12 citation statements)

References 19 publications

(25 reference statements)

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“…These abnormalities are caused by endocrine gland disorders such as thyroid or adrenal gland disorders and genetic, psychological, environmental, or structural anomalies. The cytogenetic investigation has shown that the frequency of chromosomal abnormalities varies from 15.9% to 63.3% in primary amenorrhea (3)(4)(5)(6). The high diversity is probably due to various selection criteria in different reports.…”

Section: Introductionmentioning

confidence: 99%

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

2021

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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.

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Section: Introductionmentioning

confidence: 99%

“…The sex chromosome abnormalities may be numerical or structural, such as cases with abnormal small X chromosomes because of deletion or iso X chromosomes. There are some types of PA because of the mosaicism of the X chromosome such as X/XXX and X/XX ( 7 , 8 ).…”

Section: Introductionmentioning

confidence: 99%

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

2021

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“…The 46,XY sex reversal phenotypes are one of the important causes of primary amenorrhea in females and 5%–6% primary amenorrhea females are with such male karyotype (Pal et al., 2019). The sex reversal females generally present with hypoplsatic uterus, absence of ovaries or streak gonads (Domenice et al., 2017).…”

Section: Discussionmentioning

confidence: 99%

A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female

et al. 2021

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The SRY initiates cascade of gene expression that transforms the undifferentiated gonad, genital ridge into testis. Mutations of the SRY gene is associated with complete gonadal dysgenesis in females with 46,XY karyotype. Primary amenorrhea is one of the clinical findings to express the genetic cause in 46,XY sex reversal. Here, we report a 26‐year‐old married woman presenting with primary amenorhea and complete gonadal dysgenesis. The clinical phenotypes were hypoplastic uterus with streak gonad and underdeveloped secondary sexual characters. The cytogenetic analysis confirmed 46,XY sex reversal karyotype of a female. Using molecular approach, we screened open reading frame of the SRY gene by PCR and targeted DNA Sanger sequencing. The patient was confirmed with nucleotide substitution (c.226C>A; p.Arg76Ser) at in HMG box domain of SRY gene that causes 46,XY sex reversal female. Mutation prediction algorithms suggest that alteration might be disease causing mutation and mutated (p.Arg76Ser) amino acid deleteriously affects HMG box nNLS region of SRY protein. Clinical phenotypes and in silico analysis confirmed that missense substitution (p.Arg76Ser) impaired nNLS binding Calmodulin‐mediated nuclear transport of SRY from cytoplasm to nucleus. The mutation affects down regulation of male sex differentiation pathway and is responsible for 46,XY sex reversal female with gonadal dysgenesis.

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“…Sex chromosomal aberration is the etiological cause of primary amenorrhea in almost 25% of cases. 12,13 When pubertal development was delayed, a full physical examination is needed to consider broad spectrum of differential diagnosis. 1 Cytogenetic investigations have shown a variety of chromosomal abnormalities as a major cause of amenorrhea.…”

Section: Introductionmentioning

confidence: 99%

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

Shahab

Mulyantoro

Tjahjanto

et al. 2021

J. Biomed. Transl. Res.

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Background:Female puberty starts when the pituitary hormone producing follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which will stimulate the ovaries to produce estrogen. Delayed puberty with primary amenorrhea in female is the lack of breast development followed by the absence of menses 3 years after the initiation of breast development. Sex chromosomes have an important role in determining the sex, germ cell differentiation of foetus, and reproductive functions of an offspring, thus, sex chromosomal aberrations frequently cause primary amenorrheaCase presentation: We report two delayed puberty cases with the chief complain of primary amenorrhea. Both cases showed hypoplasia of uterus and ovaries on pelvic imaging and hormonal assay showed low of FSH. The first case was gonadal dysgenesis with 46,XX karyotype and low level of estrogen and the second case was a turner syndrome with 45,X karyotype and normal level of estrogen. Conclusion:This study reported delayed puberty with primary amenorrhea cases due to different chromosomal aberration pattern which have similar clinical features. Therefore, cytogenetic examination is needed for any primary amenorrhea cases in order to accomplish the confirmatory diagnosis and for the clinicians to make a correct intervention and treatment.

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A study on chromosomal analysis of patients with primary amenorrhea

Cited by 13 publications

References 19 publications

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

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

A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female

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

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