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335477

Fluorescent in situ hybridization (FISH)—a quick screening tool for female children with palpable gonads for excluding androgen insensitivity syndrome

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Last updated: 05 Jan 2025

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Abstract

Background
The incidence of inguinal hernia in the pediatric population is 0.8–4.4% with a male to female ratio of 5:1.The reported incidence of sliding hernia containing an ovary in female infants and children is 15–20%.The complete androgen insensitivity syndrome occurs in 1–2% of girls with an inguinal hernia. Thus, the incidence of CAIS in females with hernias and palpable gonads is 4/1,000,000.
Results
This is a retrospective analysis of 694 children that had undergone inguinal hernia repair in last 11 years. Out of these, 123 were females, 36 cases had palpable gonads at the time of presentation. FISH analysis was done in 29 cases (80%). None of the cases showed the presence of the Y chromosome. An abnormal chromosomal pattern was seen in one case on complete karyotyping.
Conclusion
The reported incidence of CAIS in girls with inguinal hernia is low, thus subjecting every girl child with inguinal hernia to undergo karyotyping is distressing for the parents. FISH analysis is an effective screening modality to rule out CAIS in girls with an inguinal hernia. Thus, it is recommended to screen only high-risk cases with palpable gonads at presentation.

DOI

10.1186/s43159-022-00234-8

Authors

First Name

Mrinal

Last Name

Arora

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Email

mrinalarora87@gmail.com

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Orcid

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First Name

Noor Ullah

Last Name

Zargar

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Email

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City

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Orcid

-

First Name

Anurag

Last Name

Krishna

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-

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Volume

19

Article Issue

1

Related Issue

45427

Issue Date

2023-01-01

Receive Date

2022-12-19

Publish Date

2023-01-05

Print ISSN

1687-4137

Online ISSN

2090-5394

Link

https://apsj.journals.ekb.eg/article_335477.html

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https://apsj.journals.ekb.eg/service?article_code=335477

Order

335,477

Publication Type

Journal

Publication Title

Annals of Pediatric Surgery

Publication Link

https://apsj.journals.ekb.eg/

MainTitle

Fluorescent in situ hybridization (FISH)—a quick screening tool for female children with palpable gonads for excluding androgen insensitivity syndrome

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Article

Created At

20 Dec 2024