Leydig cell hypoplasia, type I
OMIM:238320Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | LHCGR |
|---|---|
| Reference transcript | NM_000233.3 |
| DNA Change | c.907C>T |
| A.A. Change | p.Gln303X |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Athanasoulia AP, Stalla GK, Auer MK.
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. Hormones (Athens). 2014 Jul-Sep;13(3):424-9. |
| Gene Symbol | LHCGR |
|---|---|
| Reference transcript | NM_000233.3 |
| DNA Change | c.935A>G |
| A.A. Change | p.Asn312Ser |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Athanasoulia AP, Stalla GK, Auer MK.
Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia. Hormones (Athens). 2014 Jul-Sep;13(3):424-9. |