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DO Term : Leydig cell hypoplasia type I [DOID:0112260] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3.
  • synonyms:
  • 46,XY disorder of sex development due to complete LH resistance,
  • 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation,
  • 238320,
  • 46,XY DSD due to complete luteinizing hormone resistance,
  • ORDO:96265,
  • 46,XY DSD due to complete LH receptor inactivation,
  • Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation,
  • Leydig cell hypoplasia due to complete luteinizing hormone resistance,
  • OMIM:238320,
  • Leydig cell hypoplasia due to complete LH receptor inactivation,
  • 46,XY DSD due to complete luteinizing hormone receptor inactivation,
  • 46,XY disorder of sex development due to complete LH receptor inactivation,
  • 46,XY DSD due to complete LH resistance,
  • 46,XY disorder of sex development due to complete luteinizing hormone resistance
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