20893

Females with Gonadal Dysgenesis: Cytogenetic and Molecular Analysis

Article

Last updated: 03 Jan 2025

Subjects

-

Tags

-

Abstract

Gonadal dysgenesis (GD) is a congenital defect in gonadal development related to abnormalities of genes controlling sexual differentiation and includes a wide spectrum of patients with variable phenotypes and chromosomal constitutions. This study aimed at studying the spectrum of chromosomal abnormalities as related to the phenotypic variability of GD cases and to detect the presence of Y-chromosome specific sequences in these patients by using molecular techniques in order to allow early prophylactic management. Seventy females presenting with female GD were referred to the Human genetic clinic, National Research Center for cytogenetic analysis and genetic counseling. Patients were subjected to clinical examination, pedigree construction, cytogenetic and molecular analysis. Hormonal studies, pelvic ultrasonogrophy, Laparoscopy and gonadal biopsy were performed whenever possible. Patients were classified according to their Karyotypes into 9 groups. The most frequent Karyotype, was 45, X (34.3%). The association of 45, X with other cell lines were found at a rate of 28.6%. The age of studied cases ranged between 15 days to 31.07 years (mean= 14:0.9 years). The total parental consanguinity rate reached 44.3%. Gonadal dysgenesis and short stature are the two cardinal signs in these patients. Skeletal features were detected among all studied groups with highest scores in patients having complete X monosomy (44.6%). Neck webbing was a characteristic sign of patients with non-mosaic 45, X karyotype. Dysmorphic features were detected in all groups with the exception of groups with 46, XX and 46, XY Karyotypes. Hirsutism and other virilizing signs were not commonly detected among the studied cases. Gonadoblastoma was detected in only one case among the 5 cases examined by Laparoscopic biopsy. Unidentified sex chromosomes markers constituted 35% of all our 45, X mosaic patterns. Molecular analysis of the markers using PCR technique proved the presence of Y specific sequences, SRY, in three cases. The over all rate of Y chromosomal material detected among these patients either by cytogenetic or molecular methods was 14,3%.

DOI

10.21608/jhiph.2008.20893

Keywords

Female Gonadal Dysgenesis, Cytogenetic Analysis, Molecular analysis

Authors

First Name

Mona

Last Name

Mekkawy

MiddleName

-

Affiliation

Department of Human Genetics, National Research Center, Cairo, Egypt

Email

-

City

-

Orcid

-

First Name

Samia

Last Name

Temtamy

MiddleName

-

Affiliation

Department of Human Genetics, National Research Center, Cairo, Egypt

Email

-

City

-

Orcid

-

First Name

Suzan

Last Name

Ismail

MiddleName

-

Affiliation

Department of Human Genetics, National Research Center, Cairo, Egypt

Email

-

City

-

Orcid

-

First Name

Ibtessam

Last Name

Hussein

MiddleName

-

Affiliation

Department of Human Genetics, National Research Center, Cairo, Egypt

Email

-

City

-

Orcid

-

First Name

Nargues

Last Name

Hassanein

MiddleName

-

Affiliation

Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt

Email

-

City

-

Orcid

-

Volume

38

Article Issue

2

Related Issue

4138

Issue Date

2008-04-01

Receive Date

2018-12-08

Publish Date

2008-04-01

Page Start

370

Page End

389

Print ISSN

2357-0601

Online ISSN

2357-061X

Link

https://jhiphalexu.journals.ekb.eg/article_20893.html

Detail API

https://jhiphalexu.journals.ekb.eg/service?article_code=20893

Order

8

Publication Type

Journal

Publication Title

Journal of High Institute of Public Health

Publication Link

https://jhiphalexu.journals.ekb.eg/

MainTitle

Females with Gonadal Dysgenesis: Cytogenetic and Molecular Analysis

Details

Type

Article

Created At

22 Jan 2023