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核型为45,X/46,X,idic(Y)/46,XY的混合性性腺发育不全：一例报告

Mixed Gonadal Dysgenesis with 45,X/46,X,idic(Y)/46,XY Karyotype: A Case Report.

作者信息

Shetty Reshma Ammu, Shetty Deyyanthody Prashanth, Kulshreshtha Pooja Swaroop, Kadandale Jayarama Shanker

机构信息

KSHEMA Center for Genetic Services, K.S. Hegde Medical Academy, Nitte University, Karnataka, India.

Center for Human Genetics, Karnataka, India.

出版信息

J Reprod Infertil. 2024 Jan-Mar;25(1):72-76. doi: 10.18502/jri.v25i1.15203.

DOI:10.18502/jri.v25i1.15203
PMID:39157281
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11330203/
Abstract

BACKGROUND

The purpose of the current study was to report a case with 45,X/46,XY/46,X,idic(Yp) mosaicism showing the male phenotype with mixed gonadal dysgenesis.

CASE PRESENTATION

A 27 year-old individual, phenotypically male, presented with azoospermia and a micropenis. Both testes were not visualized in the scrotal sac. Due to the presence of a small-sized uterus, the individual was referred to the KSHEMA Center for Genetic Services for chromosomal analysis. Karyotyping revealed a mosaic karyotype of 45,X[44]/46,XY[5]/46,X,idic(Yp)[1]. This finding was further confirmed through fluorescent in situ hybridization (FISH) analysis. The individual's mosaic karyotype consisted of three cell lines, with a higher proportion of the 45,X cell line and lower proportions of the idic(Yp) and 46,XY cell lines. It is worth noting that this mosaic condition in postnatal peripheral blood has not been reported in the literature thus far.

CONCLUSION

The case report demonstrated the importance of performing karyotype and FISH analysis in understanding genetic defects including mosaicism and other chromosomal aberrations, which can influence not only growth and puberty but also sexual development and maturation. Hence, performing cytogenetic and molecular cytogenetic analysis will help clinicians to take a further step in understanding and managing the condition.

摘要

背景

本研究的目的是报告一例具有45,X/46,XY/46,X,idic(Yp)嵌合体的病例，该病例表现为男性表型伴混合性性腺发育不全。

病例介绍

一名27岁的个体，表型为男性，表现为无精子症和小阴茎。阴囊内未发现双侧睾丸。由于存在小子宫，该个体被转诊至KSHEMA遗传服务中心进行染色体分析。核型分析显示为45,X[44]/46,XY[5]/46,X,idic(Yp)[1]的嵌合核型。这一发现通过荧光原位杂交（FISH）分析得到进一步证实。该个体的嵌合核型由三个细胞系组成，其中45,X细胞系比例较高，idic(Yp)和46,XY细胞系比例较低。值得注意的是，迄今为止，文献中尚未报道过出生后外周血中的这种嵌合情况。

结论

该病例报告证明了进行核型和FISH分析对于理解包括嵌合体和其他染色体畸变在内的遗传缺陷的重要性，这些遗传缺陷不仅会影响生长和青春期，还会影响性发育和成熟。因此，进行细胞遗传学和分子细胞遗传学分析将有助于临床医生进一步了解和处理该病症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/770c/11330203/d76ba7bf062c/JRI-25-72-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/770c/11330203/a448111f5b60/JRI-25-72-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/770c/11330203/6d3bf1994197/JRI-25-72-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/770c/11330203/0478479681b2/JRI-25-72-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/770c/11330203/d76ba7bf062c/JRI-25-72-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/770c/11330203/a448111f5b60/JRI-25-72-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/770c/11330203/6d3bf1994197/JRI-25-72-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/770c/11330203/0478479681b2/JRI-25-72-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/770c/11330203/d76ba7bf062c/JRI-25-72-g004.jpg

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