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- Publisher
- Springer Journals
- Copyright
- Copyright © The Author(s) 2022
- eISSN
- 2090-5394
- DOI
- 10.1186/s43159-022-00234-8
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- See Article on Publisher Site
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 com- plete 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. hernias [4]. Thus, the incidence of CAIS in females with Background inguinal hernias and palpable gonads is 4/1,000,000. The incidence of inguinal hernias in the pediatric popula - Pediatric surgeons often find it difficult to raise the issue tion ranges from 0.8 to 4.4%, [1] with a male-to-female of complete androgen insensitivity syndrome preopera- ratio of 5:1. Female infants and children undergoing tively with the parents because of the major social con- inguinal herniotomy have a reported incidence of sliding sequences of this rare diagnosis. In 1997, Viner et al. hernias containing an ovary in 15–20% of these repairs advocated that all girls with suspected inguinal hernia [2]. The association between complete androgen insensi - must undergo karyotype analysis, a recommendation tivity syndrome (CAIS) and inguinal hernia in girls has that many surgeons find distressing for the parents [5]. been appreciated since 1953 when Morris first compiled We evaluated the role of fluorescent in-situ hybridiza - a series of cases from the literature and coined the term tion (FISH) analysis as an effective screening test to rule testicular feminization syndrome [3]. Complete andro- out complete androgen insensitivity syndrome in girls gen insensitivity may occur in 1–2% of girls with inguinal with inguinal hernia. FISH is a molecular cytogenetic technique in which a fluorescent labeled DNA or RNA *Correspondence: mrinalarora87@gmail.com sequence is used as a probe to identify or quantify the 2 naturally occurring counterpart of the sequence in a bio- Department of Pediatric Surgery, ESIC MCH Faridabad, Faridabad, India Full list of author information is available at the end of the article logical sample. © The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http:// creat iveco mmons. org/ licen ses/ by/4. 0/. Arora et al. Annals of Pediatric Surgery (2023) 19:1 Page 2 of 4 Material and methods Results The present study was a single center retrospective study In total, 694 children had undergone hernia repair during including all the female children operated for inguinal the above stated period, 123 were girls (17.7%) and 571 hernia during the period 2009 to 2019. Records of 123 (82.3%) were boys (1:4.6). Among these 123 girls, 6 (4.9%) female children operated for unilateral or bilateral ingui- were neonates, 38 (30.9%) cases were less than 1 year of nal hernia were retrieved from the hospital information age and 79 (64.2%) cases were more than 1 year of age. system and analyzed. Their demographic profile, age (Figure 1) 24 cases had bilateral hernia and 99 cases pre- at presentation, age at the time of surgery, clinical pro- sented with hernia only on one side. Thirty-eight cases file, laterality, records of investigations including FISH had hernia on left side and 61 cases had hernia on right and ultrasound abdomen to rule out CAIS or any other side (1:1.6). disorder of sexual differentiation, were recorded in a Out of 24 cases of bilateral hernia, in 10 cases a gonad pre-designed performa. were palpable on one side. In 9 cases, FISH showed XX In our practice, before elective hernia repair in cases chromosomal pattern and absence of Y chromosome. In of female inguinal hernia with palpable gonads we coun- one case, the child had dysmorphic facies hence a com- sel the parents about the rare association of CAIS. We plete karyotyping was done, which showed 94% cells XX have not chosen karyotyping as the preferred screening and 6% cells XO configuration, suggestive of low-grade modality since it takes about 2–3 weeks to get a complete Turner syndrome mosaicism. analysis. In our setup, a pelvic ultrasound also does not Out of a total 99 cases of unilateral inguinal hernia, give a satisfactory and convincing evaluation of internal a gonad was palpable at the time of presentation in 26 genitalia in an infant, and is difficult to assess the pro - (26.2%) cases. Of these 26 cases, FISH test was done in lapsed gonad. Another limitation of ultrasound is that it 19 cases (73%). FISH analysis showed absence of Y chro- is operator dependent. We have chosen the FISH analy- mosome in all these cases. Thus out of total 123 cases sis for Y chromosome as it gives quicker results and gives of inguinal hernia in girls 36 (29.2%) cases had palpa- the all-important information about the presence or ble gonads at the time of presentation. FISH analysis absence of the Y-cell line. This test is advised in all such was done in 29 cases (80%) (Table 1). None of the cases cases if the parents consent for the same, otherwise the showed presence of Y chromosome. parents are counseled for regular follow-up till puberty. Discussion Inclusion criteria This retrospective analysis confirms the data reported All cases of females, presenting with inguinal hernia from in the literature, with inguinal hernia being more com- neonatal to 12 years of age which were operated in the mon in males, our ratio being 4.6 males:1 female. Her- last 11 years were included in the present study. nias are more common on the right side. Twenty-nine % of the girls presented with palpable gonads at the Exclusion criteria time of presentation. The reported prevalence of com - Incomplete information in the records plete androgen insensitivity syndrome is between 2 and Fig. 1 Age wise distribution of cases with inguinal hernia A rora et al. Annals of Pediatric Surgery (2023) 19:1 Page 3 of 4 Table 1 Distribution of cases based on laterality and their results palpable gonads should undergo a FISH analysis prior to elective hernia repair. It is not justifiable to lose an Laterality No. of cases Gonads FISH done CAIS detected opportunity to diagnose this disorder which has got palpable long-term consequences. Most of the earlier studies Unilateral 99 26 (26.2%) 19 (73%) None screened all the girls that presented with inguinal her- Bilateral 24 10 (41.6%) 10 (100%) None, 1 case nia, we limited our screening to only those girls that of Turner presented with palpable gonads. syndrome Total 123 36 (29.2%) 29 (80%) Nil Limitations of the study The incidence of CAIS in females with hernias and pal - 5 per 100,000 live births [6]. About 70–80% of cases of pable gonads is 4 in 1,000,000 cases. Hence, we need complete androgen insensitivity syndrome present with to screen a large number of cases to eventually test the unilateral or bilateral inguinal hernia in childhood [7]. sensitivity of FISH at detecting CAIS in females with Complete androgen insensitivity syndrome may pre- hernias and palpable gonads. More studies in direction sent in adolescence with primary amenorrhea during are required to establish this. Another limitation of this puberty with normal breast development and pubertal study is that FISH is an expensive test and has limited growth spurts at the appropriate age. availability. In our series, we did a FISH test in almost all cases of female hernias with palpable gonads; there was no case Conclusion in which Y chromosome was detected. This is com - The reported incidence of CAIS in girls with inguinal parable to previous studies [8], though in that study hernia is low, thus subjecting every girl child with ingui- all females with inguinal hernia were screened using nal hernia to undergo karyotyping is distressing for the buccal mucosa smear to look for Y chromosome pat- parents. FISH analysis is an effective screening modality tern. In another study, Timo et al. [9] found one case to rule out CAIS in girls with an inguinal hernia. Thus, it of CAIS out of the 109 cases screened. In another is recommended to screen only high risk cases with pal- study [5], three cases of CAIS were seen out of 270 pable gonads at presentation. cases screened. They measured the vaginal length in all females as a screening tool and confirmed the diag - Acknowledgements nosis using karyotyping. Despite being an inexpensive Not applicable. and innocuous screening test, it has got low sensitivity. Authors’ contributions Considering the low incidence of disorders of sexual MA has made substantial contribution to the conception and design of work differentiation subjecting every case of female inguinal and drafted the work. NZ reviewed the work and final draft was approved by AK. The manuscript has been read and approved by all the authors and each hernia to chromosomal analysis may not appear to be author believes that the manuscript represents honest work. justifiable as it may increase undue anxiety amongst the parents. On the other hand, failure to exclude complete Funding Nil. androgen insensitivity syndrome will result in these children presenting in puberty with primary amenor- Availability of data and materials rhea with its associated anatomical and psychological Data sharing is not applicable to this article as no data sets were generated or analyzed. complications. It could be argued that these psycho- logical effects might have been reduced by the knowl - Declarations edge earlier in their childhood that they would occur. In addition, vaginal reconstruction could have been Ethics approval and consent to participate planned before the onset of sexual activity. Many sur- The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient’s parent has given his consent for his images geons screen for CAIS by rectal examination or pelvic and other clinical information to be reported in the journal. The patient’s ultrasound but neither of these is conclusive to exclude parent understands that his names and initials will not be published and this disorder [10]. due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. This manuscript has got ethical approval by the hospital Thus, genetic analysis is the only way in which we can committee. effectively screen this disorder in girls with inguinal hernia. The fluorescent in situ hybridization technique Consent for publication Written informed consent was obtained from the patient for publication of is a quicker and efficient alternative when compared this case and any accompanying images. to karyotyping. It takes about 4 days to get the FISH result whereas it takes around 2–3 weeks for complete Competing interests The authors declare that they have no competing interests. karyotyping. Thus, all girls with an inguinal hernia with Arora et al. Annals of Pediatric Surgery (2023) 19:1 Page 4 of 4 Author details Pediatric Surgery, Max Smart Superspeciality Hospital, New Delhi, India. Department of Pediatric Surgery, ESIC MCH Faridabad, Faridabad, India. Received: 25 September 2022 Accepted: 17 December 2022 References 1. George EK, Oudesluys-Murphy AM, Madern GC, et al. Inguinal hernias containing the uterus, fallopian tube, and ovary in premature female infants. J Pediatr. 2000;136(5):696–8. 2. Ein SH, Njere I, Ein A. Six thousand three hundred sixty-one pediatric inguinal hernias: a 35-year review. J Pediatr Surg. 2006;41(5):980–6. 3. Morris JM. The syndrome of testicular feminization in male pseudoher- maphrodites. Am J Obstet Gynecol. 1953;65:1192–211. 4. Sarpel U, Palmer SK, Dolgin SE. The incidence of complete androgen insensitivity in girls with inguinal hernias and assessment of screening by vaginal length measurement. J Pediatr Surg. 2005;40(1):133–6 discussion 136–137. 5. Viner RM, Teoh Y, Williams DM, Patterson MN, Hughes IA. Androgen insen- sitivity syndrome: a survey of diagnostic procedures and management in the UK. Arch Dis Child. 1997;77(4):305–9. 6. Listyasari NA, Robevska G, Santosa A, Bouty A, Juniarto AZ. Van den Bergen J et al genetic analysis reveals complete androgen insensitiv- ity syndrome in female children surgically treated for inguinal hernia. J Investig Surg. 2019;23:1–7. 7. Deeb A. Hughes IA Inguinal hernia in female infants: a cue to check the sex chromosomes? BJU Int. 2005;96:401–3. 8. Rahman SM, Hall NJ, Crolla JA, et al. The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome. Eur J Pediatr Surg. 2012;22:136–8. 9. Hurme T, Lahdes-Vasama T, Mäkela E, Iber T, Toppari J. Clinical findings in prepubertal girls with inguinal hernia with special reference to the diagnosis of androgen insensitivity syndrome. Scand J Urol Nephrol. 2008;43(1):42–6. 10. Burge DM, Sugarman IS. Exclusion of androgen insensitivity in girls with inguinal hernias: current surgical practice. Pediatr Surg Int. 2002;18:701–3. Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in pub- lished maps and institutional affiliations.
Journal
Annals of Pediatric Surgery – Springer Journals
Published: Jan 5, 2023