Congenital isolated GH deficiency IGHD

Previously called idiopathic GHD, modern laboratory technology has shown that this state can be caused by molecular defects of the GH releasing hormone (GHRH) gene or receptor, or the hGH gene (Laron 2001). These patients are presently diagnosed at an early age and treated with the unlimited amounts of available biosynthetic hGH. Therefore, there is little information on studies of adult patients with isolated GH deficiency (IGHD). In 1969 Merimee and colleagues reported 31 patients with hereditary IGHD, whose age ranged from 13—78 years (Merimee et al 1969). Among the clinical descriptions Merimee & Laron (1996) wrote that wrinkling of the skin often began early in life and these patients consequently looked prematurely old (Table 2). Ten out of 13 males and 9 of 18 females had wrinkled skin. Rimoin et al (1966) performed skin biopsies and found decreased soluble collagen in the dermis of two thirds of these patients. The histological changes found were probably the underlying cause of thinning and

TABLE 2 Clinical characteristics of adult patients with untreated IGHD

31 13 males

Age (years) 13-78

Height (cm) 110-140

Wrinkled skin 10 9

High pitched voice 12 5

Based on data from Merimee & Laron (1996).

n wrinkling of the skin, characteristic of GH/IGF1 deficiency, and these in turn are caused by the lack of anabolic effect on collagen and hydroxyproline of these hormones. The only other histological data on the skin have been obtained by Abramovici et al (1983) who studied the skin biopsies of 35 children and adolescents including 18 with IGHD. These latter investigators found that patients with IGHD lack elastic fibres in the skin papillary layer and an uneven distribution of elastic fibres in the reticular layer.

0 0

Post a comment