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Leydig cell hypoplasia, type 1

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Mondo Description Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.
Uniprot Description An autosomal recessive disorder characterized by unresponsiveness to luteinizing hormone, defective sexual development in males, and defective follicular development and ovulation, amenorrhea and infertility in females. Two forms of the disorder have been defined in males. Type 1 is a severe form characterized by complete 46,XY male pseudohermaphroditism, low testosterone and high luteinizing hormone levels, total lack of responsiveness to luteinizing and chorionic gonadotropin hormones, lack of breast development, and absent development of secondary male sex characteristics. Type 2, a milder form, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias.
Mondo Term and Equivalent IDs
MONDO:0009384:  Leydig cell hypoplasia, type 1