Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene.

ABSTRACT:

Context

Germline and somatic activating mutations in the LH receptor (LHR) gene have been reported.

Objective

Our objective was to perform mutation analysis of the LHR gene of patients with Leydig cell adenoma or hyperplasia. Functional studies were conducted to compare the D578H-LHR mutant with the wild-type (WT)-LHR and the D578G-LHR mutant, a classic cause of testotoxicosis. The three main signal transduction pathways in which LHR is involved were studied.

Patients

We describe eight male patients with gonadotropin-independent precocious puberty due to Leydig cell adenoma or hyperplasia.

Results

The D578H-LHR mutation was found in the adenoma or nodule with hyperplasia in all but two patients. D578H-LHR displayed a constitutively increased but noninducible pr

SUBMITTER: Boot AM 

PROVIDER: S-EPMC3135199 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature