Growth Hormone and Dysmorphic Syndromes

Abstract

In order to study the pathogenesis of short stature in some of the best known and most frequent dysmorphic syndromes, we have reviewed the most significant studies conducted on somatrotropin secretion and on response to replacement treatment with human growth hormone in pediatric patients. In particular, the study examines the results presented in the literature, and in a few of our cases, those obtained with regard to Noonan, Silver-Russell and Prader-Willi syndrome patients, to achondroplasia and hypochondroplasia patients, and to Down syndrome patients. Finally, we shall present a review of a few, less frequent dysmorphic syndromes with short stature, in which a growth hormone deficiency has been diagnosed and replacement treatment attempted.

Structural Organization and Chromosomal Localization of Three Human Galanin Receptor Genes

“…The main features of RSS are lateral asymmetry and low‐birthweight dwarfism, and most patients with the disorder apparently have normal levels of growth hormone. 25,26…”

Smith-Magenis syndrome and growth hormone deficiency

“…GH deficiency has been demonstrated in chromosome deletion syndromes and implied in the pathogenesis of the associated short stature [7,14]. In a series of 33 subjects with the 18q syndrome, Cody et al [4] identified a region of approximately 2 Mb that was deleted in every GH insufficient patient.…”

Growth Hormone Therapy in Achondroplasia (ACH)

“…Recent studies have shown that the disorder is caused by point mutations in the gene encoding fibroblast growth factor receptor 3(FGFR3) (1)(2)(3). A number of trials have been conducted on the use of growth hormone therapy to improve the final height of ACH patients (4)(5)(6)(7)(8)(9)(10). The present communication is an overview of GH therapy for achondroplasia, focusing on ACH.…”