Leydig cell hypoplasia, type 1

Definition

Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene.

Also known as Leydig cell hypoplasia caused by mutation in LHCGR, leydig cell hypoplasia with hypergonadotropic hypogonadism, leydig cell hypoplasia with pseudohermaphroditism, LHCGR Leydig cell hypoplasia — per MONDO

Also identified as

• OMIM 238320 per MONDO
• UMLS C0266432 per MONDO