ESPE Abstracts

Background: Mutations in GH-1 gene is a rare cause of isolated growth hormone deficiency. Main features of this condition include markedly reduced secretion of GH combined with low concentrations of IGF-I leading to short stature.

Objective and hypotheses: 1.56 years old girl was admitted to our hospital because of short stature. She was born at term from closely related healthy parents. Her birth length and weight were 48 cm (SDS: −1.07) and 3670 g (SDS: 0.75), respectively. Failure to thrive and psycho-motor delay were noted. The karyotype is 46 XX. On examination at 1.56 years her height was 59 cm (SDS: −7.25) and her weight was 4.6 kg, BMI SDS −3.69, she had some mild dysmorphic features (prominent forehead, saddle nose and blue sclera). Laboratory testing revealed low IGF-1 (3 ng/ml), normal random fT₄, cortisol and prolactin levels. Bone age was 8 month. Genetic analysis revealed homozygous GH-1 gene deletions. The girl was started on GH therapy and protein rich diet.

Method: ‘Hypopituitarism panel’ genes were sequenced using a custom Ion Ampliseq gene panel and PGM semiconductor sequencer (Ion Torrent).

Results: For the first year of GH therapy she grew 18.44 cm (SDS height velocity 5.96 cm/year) and showed some improvement in psychomotor development. For the first 2 years of GH therapy she grew 13.26 cm (SDS: 4.23). Now her Δ height is 41 cm, Δ height SDS is 5.53 for 3 years of therapy.

Conclusion: Mutations in GH-1 gene is a rare cause of isolated growth hormone deficiency, which may present with extremely short stature and showing a good response to GH therapy.