Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans.

What It Covers

This review looks at Exogenous HGH, sermorelin & older GHRPs (why they're passed over) and GHRH (Growth Hormone-Releasing Hormone).

The researchers describe a recently identified new form of dwarfism due to isolated growth hormone (GH) deficiency, secondary to inactivating mutations in the GH-releasing hormone receptor (GHRHR) gene.

The identical nonsense mutations in the extracellular domain of the GHRHR (E72X or E50X, depending on whether the signal peptide is included in the numbering) has been independently described in three families residing on or originating from the Indian subcontinent (Pakistan, the Bombay region, and Delft near Sri Lanka).

Who the Included Studies Covered

By PubMed's age tags, the people studied were adults, both men and women.

What Was Measured

The researchers describe a recently identified new form of dwarfism due to isolated growth hormone (GH) deficiency, secondary to inactivating mutations in the GH-releasing hormone receptor (GHRHR) gene.

Topics PubMed links to this paper include Chromosomes, Human, Pair 7, Codon, Nonsense, Dwarfism, Pituitary, Genes, Recessive, Human Growth Hormone, Mice and Mice, Mutant Strains.

What This Means in Plain Language

This is a review of Exogenous HGH, sermorelin & older GHRPs (why they're passed over) and GHRH (Growth Hormone-Releasing Hormone).

The publication is from 1999 (Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society), a journal based in Scotland.

More context: the Exogenous HGH, sermorelin & older GHRPs (why they're passed over) compound page and the GHRH (Growth Hormone-Releasing Hormone) compound page, all human trials.