Article
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.
Nature genetics - 1 Feb 1995
Kremer H, Kraaij R, Toledo S P, Post M, Fridman J B, Hayashida C Y, van Reen M, Milgrom E, Ropers H H, Mariman E
Abstract excerpt
Leydig cell hypoplasia is a rare autosomal recessive condition that interferes with normal development of male external genitalia in 46,XY individuals. We have studied two Leydig cell hypoplasia patients (siblings born to consanguineous parents), and found them to be homozygous for a missense mutation (Ala593Pro) in the sixth transmembrane domain of the luteinizing hormone (LH) receptor gene. In vitro expression...
Topics
- Amino Acid Sequence
- Base Sequence
- Congenital Abnormalities
- Consanguinity
- Disorders of Sex Development
- Female
- Homozygote
- Humans
- Leydig Cells
- Male
- Molecular Sequence Data