Endocrine Abstracts

The Short Stature Homeobox-containing gene, SHOX, encodes a transcription factor involved in regulation of growth. SHOX haploinsufficient patients including those with Turner syndrome (TS) show growth impairment with or without mesomelic skeletal dysplasia. This study assessed the efficacy of GH in treating short stature associated with SHOX deficiency (SHOX-D). Prepubertal short patients (24 males, 28 females; 3.0–12.3 years) with molecularly-proven SHOX-D were ra...

Noonan syndrome (NS) is one of the most common non-chromosomal syndromes seen in children with congenital heart disease. Half of them have mutations in the PTPN11 gene, a gene that has a role in modulating cellular proliferation, differentiation, migration and it is required in several developmental processes. Height is not affected at birth, but during childhood short stature is present in about 80% with a less percentage being short at adult age due to delayed bone age and g...

Background: PWS is neurogenetic disorder characterized by muscular hypotonia, hypogonadism, psychomotor delay, obesity, and short stature. Several reports have shown that GH treatment not only results in a remarkable growth, but also in an improvement of body composition and increased muscle strength and agility. Data about the effects of GH-treatment on motor and cognitive abilities and on respiratory parameters in PWS children are limited.Methods: In a...

In 2006, the International Paediatric Endocrine Societies and the GH Research Society convened a meeting to consider the management of the SGA child through to adulthood. This included consideration of strategies for management of the short SGA child who has failed to show catch-up growth. The following statements relate to the outcomes of this meeting.Short children born SGA form a heterogeneous group with various aetiologies and treatment should be pre...