Background: Congenital isolated GH deficiency (cIGHD) is a rare genetic disease occurring mostly in consanguineous families. It is caused by hGH-1 gene deletion or GHRH receptor mutations.
Aim of study: To collect retrospectively size at birth, developmental mile stones, linear and head growth and pubertal development before and during hGH treatment.
Subjects: The medical charts of 37/41 patients with cIGHD (21 m, 16 f) contained pertinent data. 34 patients had hGH1 deletions, seven had GHRH-R mutations.
Methods: The patients were diagnosed, treated, measured and followed in our clinic.
Results: Mean birth length of 10/37 neonates was 48.3±2.3 (4450) cm. Mean birth weight of 32/37 neonates was 3290±460 g (24004000 g) (m), 3090±480 g, (23004000) (f). Neuromotor development was normal or slightly delayed. Age at referral for boys was 5.7±4.2 (0.1213.6)y and for girls 5.6±3.8 (0.413.1)y. Mean age of hGH (35 μg/kg per day) treatment initiation for boys was 7.5±4.8, (0.815.5)y and of girls 6.8±4.4 (0.816.6)y. Other changes during hGH treatment were :
|Height SDS||Weight SDS||BMI||Head circumference SD|
|Puberty was delayed in boys, less so in girls. Mean age of 1st ejaculation of 14 boys was 17.6±2.2 (1421)y. Mean age at menarche of 14 girls was 13.8±1.2 (1216)y. All reached full sexual development but the penile and testicular size were below normal.|
Conclusion: Earlier initiation and longer duration of hGH treatment resulted in better results, but did not normalize height in all patients.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology