Article
Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study.
The Journal of clinical endocrinology and metabolism - 1 Oct 1996
Rosenthal I M, Refetoff S, Rich B, Barnes R B, Sunthornthepvarakul T, Parma J, Rosenfield R L
Abstract excerpt
The pituitary-gonadal axis was evaluated in a mother after two of her sons with familial male-limited pseudoprecocious puberty were found to have a constitutively activating mutation of the LH receptor (LHR). Genotyping demonstrated that all showed a mutation in one of the two alleles, a substitution of Gly for Asp578 in the sixth transmembrane segment of the LHR. Ovarian function was normal in the 36-yr-old...
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