Article
The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.
Clinical endocrinology - 1 Jan 2004
Jorge Alexander A L, Souza Silvia C A L, Arnhold Ivo J P, Mendonca Berenice B
Abstract excerpt
OBJECTIVE: The study describes for the first time, a homozygous mutation in the WSXWS-like motif of the human GH receptor (GHR) in a patient with Laron syndrome and describe laboratory data during treatment with GnRHa to suppress puberty and dihydrotestosterone (DHT). PATIENTS: A 16-year-old boy at Tanner puberty stage 2 with Laron syndrome was born SGA to consanguineous parents, presented severe growth...
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