45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38]混合性性腺发育不良的马赛克核型:病例报告和文献综述。

IF 2.1 3区 医学 Q2 PEDIATRICS Frontiers in Pediatrics Pub Date : 2024-10-16 eCollection Date: 2024-01-01 DOI:10.3389/fped.2024.1460174
Qiang Zhang, Xiaoxiao Chen, Yanyan Cao, Yun Zhou, Yingye Liu, Lijun Liu, Lei Liu, Xiaowei Cui
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引用次数: 0

摘要

混合性性腺发育不良是由多种染色体异常引起的,最常见的是 Y 染色体嵌合。一名 8 岁男孩因身材矮小前来就诊,可能需要使用重组生长激素进行治疗。他曾患有混合性性腺发育不良(尿道下裂、双侧隐睾、阴道前突和发育不良的未成熟子宫),并接受过一系列矫正手术。14 个月大时,染色体核型检查结果显示为 46,X,+mar。就诊时,实验室检测结果与青春期前的男性表型一致。荧光原位杂交显示核型为 45,X[2]/46,X,der(Y).ish psu idic(Y)(q11.2)(SRY++,DYZ3++)[38] 。文献综述发现了 8 例与 45,X/46,X,idic(Y)(q11.2)相关的混合性性腺发育不良病例报告。性表型和身材矮小均与 46,X,idic(Y)(q11.2)马赛克比率无关。
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45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review.

Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone. He had a history of mixed gonadal dysgenesis (hypospadias, bilateral cryptorchidism, processus vaginalis, and dysplastic immature uterus) and a series of corrective surgeries. At 14 months of age, chromosomal karyotyping revealed 46,X,+mar. Upon presentation, lab testing was consistent with the male phenotype at prepuberty. Fluorescence in situ hybridization revealed 45,X[2]/46,X,der(Y).ish psu idic(Y)(q11.2)(SRY++,DYZ3++)[38] karyotype. A literature review identified eight case reports of mixed gonadal dysgenesis associated with 45,X/46,X,idic(Y)(q11.2). Neither sex phenotype nor short stature correlated with the 46,X,idic(Y)(q11.2) mosaic ratio.

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来源期刊
Frontiers in Pediatrics
Frontiers in Pediatrics Medicine-Pediatrics, Perinatology and Child Health
CiteScore
3.60
自引率
7.70%
发文量
2132
审稿时长
14 weeks
期刊介绍: Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.
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