title: Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?
abstract: Type 1 Trichorhinophalangeal syndrome (TRPS) is characterized by typical facial and skeletal abnormalities. These patients frequently exhibit short stature; however, only one case with growth hormone (GH) deficiency can be found in the literature. Our patient is a 10-year-old girl with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity: c. 1198C>T (p. Gln400X) and c.2086C>T (p. Arg696X). She has an additional GH deficiency. The patient is short in stature, with a growth velocity of 1.5 cm per year (SDS - 4.07), a bone age of 4.5 years, and she shows no response to the GH stimulation tests. According to a previous report of an identical case, catch-up growth will occur after beginning GH treatment. We believe that GH stimulation tests should be performed on patients with TRPS1 exhibiting a growth velocity below the normal range expected for their age and sex. If the result is subnormal, then GH therapy should be attempted.
authors.forename: Jorge Sales
authors.initials: JS
authors.lastname: Marques
authors.forename: Catarina
authors.initials: C
authors.lastname: Maia
authors.forename: Raquel
authors.initials: R
authors.lastname: Almeida
authors.forename: Lara
authors.initials: L
authors.lastname: Isidoro
authors.forename: Catarina
authors.initials: C
authors.lastname: Dias
mesh_terms: D001827:Body Height; D002648:Child; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D013006:Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use; D006201:Hair Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D009666:Nose / Q000002:abnormalities*; D011994:Recombinant Proteins / Q000627:therapeutic use; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D011994:Recombinant Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors; D013006:Growth Hormone