Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome

Abstract

The trichorhinophalangeal syndromes (TRPSs) are syndromes due to haploinsufficiency of genes in the chromosome 8q24.12 region. Type I TRPS is characterized by typical facial features including sparse, brittle and fine hair, bulbous nose, and a long philtrum, as well as skeletal abnormalities. Growth retardation is a feature frequently found in these patients, who commonly are of short stature; however, only one case with growth hormone deficiency has been described in a TRPS patient and that patient had type II TRPS. Skeletal morphological abnormalities have been studied, but investigation of bone metabolism and quality in this kind of patients are not available. In this report we describe two cases of type I TRPS with partial growth hormone deficiency and significant bone mass and quality impairment, which was unresponsive to GH treatment.

Thricho‐rhino‐phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates

“…Review of the literature shows that severe osteoporosis is reported in a single patient with TRPS type I, carrying the de novo 1096insA mutation in TRPS1 gene [Shao et al, 2011], while significantly reduced bone mass and quail were described as a new feature of TRPS type I by Stagi et al [2008] and Sarafoglou et al [2010]. Therefore, osteoporosis and alterations of BMD should be considered an additional rare feature of TRPS type I. Interestingly, a single nucleotide polymorphism (rs4355801) mapping on the same chromosomal locus of TRPS1 (8q24.12) has been significantly associated with BMD and osteoporosis by genome-wide association study (GWAS) [Richards et al, 2008].…”

A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature

“…Stagi et al [13] described 2 GH-responsive patients with TRPS I who had normal GH responses to provocative testing [13]. The authors however considered the patients to both have partial growth hormone deficiency based on low nocturnal mean GH concentrations.…”

“…Naselli et al and Sohn et al reported failure of GH treatment in a pair of monozygotic twins and 2 other unrelated patients with TRPS I [11,12], whereas Stagi et al and Sarafoglou et al reported that GH treatment was effective in improving height velocity in 4 patients with TRPS I [13,14]. …”

A case of Tricorhinophalangeal syndrome

“…Kısa boy bu hastaların diğer bir karakteristik özelliğidir 3 . Eklemlerde pertes benzeri değişiklikler görülür 1,8 . Kısa boy bu olgularda bildirilen yaygın bir özellik olmakla birlikte son bildirilerde TRFS tip 1'de kısa boy ile birlikte gecikmiş kemik yaşı, azalmış kemik mineral dansitesi ve parsiyel büyüme hormonu (GH) eksikliği bulunan olgular gösterilmiştir.…”

“…Kısa boy bu olgularda bildirilen yaygın bir özellik olmakla birlikte son bildirilerde TRFS tip 1'de kısa boy ile birlikte gecikmiş kemik yaşı, azalmış kemik mineral dansitesi ve parsiyel büyüme hormonu (GH) eksikliği bulunan olgular gösterilmiştir. Olguların GH replasmanı ile başarılı bir şekilde tedavi edildiği bildirilmiştir 6,8 . Olgumuzda flankslarda koni şeklinde epifiz saptanmış olup, boy sınır persantildeydi (SD:-2,2), IGF1 normal sınırlarda, kemik yaşı ise normal sınırların altındaydı.…”