Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development.

IF 2.4 4区医学 Q2 DEVELOPMENTAL BIOLOGY

Sexual Development Pub Date : 2023-01-01 DOI:10.1159/000528955

Mirkka Hiort, Julia Rohayem, Regine Knaf, Sandra Laurentino, Agnethe Berglund, Claus H Gravholt, Jörg Gromoll, Joachim Wistuba

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引用次数: 0

Abstract

Background: A subtype of disorders of sex development (DSD) in individuals with a 46,XX karyotype who are phenotypically male is classified as testicular DSD (46,XX TDSD). These individuals develop testes but are infertile due to germ cell loss. However, little is known about their testicular architecture.

Methods: We analyzed biopsies of four SRY positive 46,XX TDSD men for testicular architecture, Sertoli (SCs) and Leydig cells (LCs). These were compared with biopsies of men with normal spermatogenesis (NS, n = 4), men with Klinefelter syndrome, 47 XXY (KS, n = 4), and men with AZF deletions (AZF, n = 5). Testicular architecture was evaluated and SCs and LCs were analyzed for specific markers (SC: SOX9, DMRT1; LC: INSL3).

Results: A smaller number of tubules, more SOX9-negative but similar proportions of DMRT1-negative SCs were found in 46,XX TDSD compared to NS. The lower number of tubules and severe LC hyperplasia observed in 46,XX TDSD were similar to KS.

Conclusion: Testicular architecture and marker expression of SCs and LCs in 46,XX TDSD men display unique patterns, which are discernable from chromosomal aneuploidies. Given the reduced Y-chromosomal gene content in 46,XX TDSD, the supernumerary X chromosome effects may be decisive regarding the damage on testicular composition and endocrine function.

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46、XX性发育障碍男性睾丸结构分析。

背景:性别发育障碍(DSD)的一种亚型，在46,XX染色体核型的个体中表现为男性，被归类为睾丸性DSD (46,XX TDSD)。这些人发育了睾丸，但由于生殖细胞丢失而无法生育。然而，人们对它们的睾丸结构知之甚少。方法:我们对4例SRY阳性46,XX TDSD男性的睾丸结构、支持细胞(SCs)和间质细胞(lc)的活检进行分析。将这些结果与正常精子发生男性(NS, n = 4)、Klinefelter综合征男性(KS, n = 4)和AZF缺失男性(AZF, n = 5)的活检结果进行比较。评估睾丸结构，分析SCs和lc的特异性标志物(SC: SOX9, DMRT1;LC: INSL3)。结果:与NS相比，46xx TDSD中小管数量较少，sox9阴性SCs较多，但dmrt1阴性SCs的比例相似。46,XX TDSD中小管数量较少，LC增生严重，与KS相似。结论:46xx例TDSD男性的睾丸结构及SCs和lc的标志物表达具有独特的模式，可与染色体非整倍体区分。考虑到46,XX TDSD中y染色体基因含量的降低，多余的X染色体效应可能对睾丸组成和内分泌功能的损害起决定性作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Sexual Development 生物-发育生物学

CiteScore

4.00

自引率

4.30%

发文量

审稿时长

>12 weeks

期刊介绍： Recent discoveries in experimental and clinical research have led to impressive advances in our knowledge of the genetic and environmental mechanisms governing sex determination and differentiation, their evolution as well as the mutations or endocrine and metabolic abnormalities that interfere with normal gonadal development. ‘Sexual Development’ provides a unique forum for this rapidly expanding field. Its broad scope covers all aspects of genetics, molecular biology, embryology, endocrinology, evolution and pathology of sex determination and differentiation in humans and animals. It publishes high-quality original research manuscripts, review articles, short reports, case reports and commentaries. An internationally renowned and multidisciplinary editorial team of three chief editors, ten prominent scientists serving as section editors, and a distinguished panel of editorial board members ensures fast and author-friendly editorial processing and peer reviewing.