Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Life Science and Engineering, Foshan University, Foshan 528225, China.
Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, School of Life Science and Engineering, Foshan University, Foshan 528225, China; School of Biological Sciences, The University of Western Australia, 35 Stirling Highway, Crawley (Perth), Western Australia 6009, Australia.
Anim Reprod Sci. 2024 Nov;270:107579. doi: 10.1016/j.anireprosci.2024.107579. Epub 2024 Aug 17.
Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomes, gonads, or anatomical sex. XX-DSD pigs disrupt the production of high-quality breeding pigs and impede the advancement of the pig industry. However, the etiology of XX-DSD pigs remains unclear. Systematic reports on the genetic and pathological characteristics of prepubescent XX-DSD pigs in familial contexts are sparse. This study aimed to investigate the genetic and pathological features of one-month-old XX-DSD pigs within a familial context and to provide phenotypic information to elucidate the pathogenic mechanisms of XX-DSD pigs. The findings revealed that inbreeding within the XX-DSD family may contribute to the pathogenesis of XX-DSD pigs. All XX-DSD pigs in the family had a chromosomal sex of female and were male pseudohermaphrodites. The degree of masculinization of the reproductive organs varied among XX-DSD pigs, demonstrating phenotypic heterogeneity. HE staining showed that the testes of prepubescent XX-DSD pigs contained vesicles in the seminiferous tubules, with or without vestigial germ cells. Ultrastructural analyses indicated that sertoli cells, leydig cells and germ cells in the testes of XX-DSD pigs exhibited pathological damage, confirming impaired testicular function. Immunofluorescence staining revealed high expression of SRY-box transcription factor 9 (SOX9) in XX-DSD pig testicular tissues, while forkhead box L2 (FOXL2) was minimally expressed. Disordered secretion of reproductive hormones in prepubescent XX-DSD pigs indicated abnormal hypothalamic-pituitary-gonadal axis (HPGA) function. This study elucidates the genetic and pathological characteristics of prepubescent XX-DSD pigs in familial case, providing valuable insights for further exploration of the pathogenic mechanisms underlying XX-DSD.
性发育障碍（DSD）是一种先天性疾病，其特征为染色体、性腺或解剖性别发育异常。XX-DSD 猪会扰乱高质量种猪的生产，并阻碍猪产业的发展。然而，XX-DSD 猪的病因仍不清楚。在家族环境中，关于青春期前 XX-DSD 猪的遗传和病理特征的系统报告很少。本研究旨在探讨家族性 XX-DSD 猪在青春期前的遗传和病理特征，并提供表型信息，以阐明 XX-DSD 猪的发病机制。研究结果表明，XX-DSD 家族内的近亲繁殖可能导致 XX-DSD 猪的发病。家族内所有 XX-DSD 猪的染色体性别均为女性，且为男性假两性畸形。XX-DSD 猪的生殖器官的男性化程度不同，表现出表型异质性。HE 染色显示，青春期前 XX-DSD 猪的睾丸曲细精管内有小泡，其中有或没有退化的生殖细胞。超微结构分析表明，XX-DSD 猪睾丸的支持细胞、间质细胞和生殖细胞存在病理损伤，证实睾丸功能受损。免疫荧光染色显示，XX-DSD 猪睾丸组织中 SRY 盒转录因子 9（SOX9）表达较高，而叉头框 L2（FOXL2）表达较低。青春期前 XX-DSD 猪生殖激素分泌紊乱表明下丘脑-垂体-性腺轴（HPGA）功能异常。本研究阐明了家族性青春期前 XX-DSD 猪的遗传和病理特征，为进一步探讨 XX-DSD 的发病机制提供了有价值的信息。
