Article
A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.
The Journal of clinical endocrinology and metabolism - 1 Feb 1998
Gromoll J, Partsch C J, Simoni M, Nordhoff V, Sippell W G, Nieschlag E, Saxena B B
Abstract excerpt
We describe a patient with onset of puberty at the age of 5 yr. characterized by accelerated growth, enlargement of genitalia, pubarche, and serum hormone levels compatible with noncentral precocious puberty. Exon 11 of the LH receptor gene was amplified from genomic DNA by PCR and directly seque...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- COS Cells
- Child
- Chorionic Gonadotropin
- Cyclic AMP
- DNA
- Exons
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Puberty, Precocious
- Receptors, LH
- Sequence Analysis
- Sequence Homology
- Transfection