Abstract
Trichorhinophalangeal syndrome type I (TRPS I; MIM 190350) is a rare autosomal dominant disorder of congenital malformations due to variants of the gene TRPS1. We reported on an 11-year-old Chinese boy with TRPS I. He had typical clinical findings, including sparse hair, a bulbous nose, a long philtrum, a thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. Trio whole exome sequencing identified a likely pathogenic heterozygous variant c.1957C > T (p.Q653*) in exon 4 of TRPS1, which has not been previously reported. He had been treated with rhGH therapy at a dose of 0.34 mg/(kg/week) at age 11, and a follow-up was conducted for one year. The rhGH therapy led to an increase in growth with a mean growth velocity of 1.12 cm/month (+1.1 SDS/year), and insulin-like growth factor 1 (IGF-1) concentration increased within normal range in our case. Moreover, we summarize 12 cases with TRPS I, including TRPS1 gene variants, growth hormone (GH) axis evaluation, IGF-1 concentration, and treatment in each analyzed case. Eight cases with TRPS I show a good response to rhGH therapy, and five of them have elevated IGF-1. Classic GH deficiency is not common among patients with TRPS I. The presence or absence of GH deficiency is not an absolute criterion for determining whether rhGH therapy should be used in TRPS I. It proves that rhGH therapy improves height outcomes before puberty in TRPS I in the short term. Effects on final adult height will need a longer follow-up and more adult-height data. The rise in IGF-1 could correlate with an increase in short-term height. Measuring IGF-1 levels is recommended as part of the assessment during the follow-up of patients with TRPS I.