Leydig Cell Hypoplasia (LCH)

Leydig 细胞发育不全(来自翻译大模型)

别称:

46,xy Disorder of Sex Development Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency

46,xy Dsd Due to Luteinizing Hormone Resistance or Luteinizing Hormone Beta Subunit Deficiency

46,xy Disorder of Sex Development Due to Lh Resistance or Lhb Deficiency

46,xy Dsd Due to Lh Resistance or Lhb Deficiency

Male Hypergonadotropic Hypogonadism Due to Lhcgr Defect

46,xy Disorder of Sex Development Due to Lh Defects

Lh Resistance Due to Lh Receptor Deactivation

Leydig Cells Hypoplasia

Leydig Cell Agenesis

Lch

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Leydig 细胞发育不全，也称为由于黄体生成素抵抗或黄体生成素β亚单位缺乏导致的 46,xy 性发育障碍，与假阴道阴囊阴茎下部尿道下裂和 46,xy 性发育障碍有关。与 Leydig 细胞发育不全相关的基因是 LHCGR（黄体生成素/促性腺激素受体），其相关通路/超通路包括信号转导和类 A/1（视黄醇受体样受体）。相关组织包括睾丸和乳腺，相关表型包括延迟骨骼成熟和隐睾症。

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