The phenotype of a pig with monosomy X resembling Turner syndrome symptoms: a case report

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  • UMEYAMA Kazuhiro
    Meiji University International Institute for Bio-Resource Research, Kanagawa 214-8571, Japan Laboratory of Developmental Engineering, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan
  • NAKANO Kazuaki
    Laboratory of Developmental Engineering, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan PorMedTec Co., Ltd., Kanagawa 214-0034, Japan
  • MATSUNARI Hitomi
    Meiji University International Institute for Bio-Resource Research, Kanagawa 214-8571, Japan Laboratory of Developmental Engineering, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan
  • YAMADA Takeshi
    Laboratory of Developmental Engineering, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan
  • HASEGAWA Koki
    Laboratory of Developmental Engineering, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan
  • TANG Kun
    Laboratory of Developmental Engineering, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan
  • TOKUYAMA Yuki
    Laboratory of Developmental Engineering, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan
  • WATANABE Masahito
    Meiji University International Institute for Bio-Resource Research, Kanagawa 214-8571, Japan Laboratory of Developmental Engineering, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan
  • NAGAYA Masaki
    Meiji University International Institute for Bio-Resource Research, Kanagawa 214-8571, Japan
  • NAGASHIMA Hiroshi
    Meiji University International Institute for Bio-Resource Research, Kanagawa 214-8571, Japan Laboratory of Developmental Engineering, Department of Life Sciences, School of Agriculture, Meiji University, Kanagawa 214-8571, Japan

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<p> The partial or complete loss of one X chromosome in humans causes Turner syndrome (TS), which is accompanied by a range of physical and reproductive pathologies. This article reports similarities between the phenotype of a pig with monosomy X and the symptoms of TS in humans. Born as the offspring of a male pig carrying a mutation in an X-chromosomal gene, ornithine transcarbamylase (OTC), the female pig (37,XO) was raised to the age of 36 months. This X-monosomic pig presented with abnormal physical characteristics including short stature, micrognathia, and skeletal abnormalities in the limbs. Furthermore, the female did not exhibit an estrous cycle, even after reaching the age of sexual maturity, and showed no ovarian endocrine activity except for an irregular increase in blood 17β-estradiol levels, which was seemingly attributable to sporadic follicular development. An autopsy at 36 months revealed an undeveloped reproductive tract with ovaries that lacked follicles. These data demonstrated that the growth processes and anatomical and physiological characteristics of an X-monosomic pig closely resembled those of a human with TS.</p>

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