Fluorescent in situ hybridization (FISH)—a quick screening tool for female children with palpable gonads for excluding androgen insensitivity syndrome
نویسندگان
چکیده
Abstract Background The incidence of inguinal hernia in the pediatric population is 0.8–4.4% with a male to female ratio 5:1.The reported sliding containing an ovary infants and children 15–20%.The complete androgen insensitivity syndrome occurs 1–2% girls hernia. Thus, CAIS females hernias palpable gonads 4/1,000,000. Results This retrospective analysis 694 that had undergone repair last 11 years. Out these, 123 were females, 36 cases at time presentation. FISH was done 29 (80%). None showed presence Y chromosome. An abnormal chromosomal pattern seen one case on karyotyping. Conclusion low, thus subjecting every girl child undergo karyotyping distressing for parents. effective screening modality rule out it recommended screen only high-risk
منابع مشابه
The XY Female (Androgen Insensitivity Syndrome)-Runs in the Family.
Androgen insensitivity syndrome (AIS) was first described in details by Morris [1], who provided the descriptive terms—testicular feminization syndrome for this disorder, which is inherited as X-linked recessive disorder. The underlying pathology is the inability of the end organs to respond to androgens, either due to lack of androgen cytosol receptor or defect in the receptor. Genotypically t...
متن کاملRNA in situ hybridization of dissected gonads.
Copyright: © 2006 Min-Ho Lee and Tim Schedl. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. To whom correspondence should be addressed. E-mail: [email protected] or [email protected] RNA in situ hy...
متن کاملAndrogen insensitivity syndrome
The androgen insensitivity syndromes (AIS) fall within the generic category of 46,XY DSD (disorder of sex development) and present as phenotypes associated with complete or partial resistance to the action of androgens. Three categories are recognized: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), mild androgen insensitivity syndrome (MAIS). Th...
متن کاملAndrogen Insensitivity Syndrome
Androgen Insensitivity Syndrome (AIS) is a human disorder in which an individual's genetic sex (genotype) differs from that individual's observable secondary sex characteristics (phenotypes). A fetus [4] with AIS is genetically male with a 46,XY genotype. The term 46,XY refers to the chromosomes found in most cells of the fetus [4]. Most cells have a total of 46 autosomes, or non-sex chromosome...
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ژورنال
عنوان ژورنال: Annals of Pediatric Surgery
سال: 2023
ISSN: ['2090-5394', '1687-4137']
DOI: https://doi.org/10.1186/s43159-022-00234-8