Background: The familial type of isolated GH deficiency (IGHD) is characterized by a variable degree of growth restriction, low but detectable GH serum concentrations. The recessive type 1A and 1B, the autosomal-dominant type 2, and X-linked recessive type 3. Phenotype-genotype correlations are notoriously difficult to be established.
Objective and hypotheses: Herein, we described the variable clinical status of a family with a novel GH1 mutation which is likely lead to GH dysfunction.
Method: Case: The proband was 8-years and 9-month-old boy who presented with short stature. His height was 108.5 cm (−4.15 SDS) and his weight was 14.5 kg (−5.6 SDS), MPH was 164.9 (−1.8 SDS), bone age was 6 years. Interestingly, two GH stimulation tests had normal peak GH value of 12.6 ng/ml (with clonidine) and 12.1 ng/ml (with insulin). Other pituitary hormones and magnetic resonance imaging (MRI) of the pituitary region was normal. The proband received recombinant human GH (rhGH) treatment (30 μg/kg per day) and he grew 5.1 cm in 6 months.
Results: Sequencing of the GH1 gene revealed a novel heterozygous mutation in patient, his mother and sister with severe short stature, no phenotypic characteristics of GHD (p.Q110E).
Conclusion: Establishing the genetic diagnosis of GHD is a challenge but clinical feature exceptions have to be considered.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology