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Leydig cell hypoplasia

Disease definition

A rare, 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.

ORPHA:755

Classification level: Disorder
  • Synonym(s):
    • 46,XY DSD due to LH resistance or LHB 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 disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q56.1
  • OMIM: 238320
  • UMLS: C0860158
  • MeSH: -
  • GARD: 3244
  • MedDRA: 10024406
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