ESPE2014 Poster Presentations Growth (1) (12 abstracts)
Early Development, Growth and Puberty before and During Treatment of Congenital IGHD
Keren Samuel a, , Rivka Kauli a, & Zvi Laron a,
aSchneider Children’s Medical Centre, Petach-Tikva, Israel; bSackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel
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 (44–50) cm. Mean birth weight of 32/37 neonates was 3290±460 g (2400–4000 g) (m), 3090±480 g, (2300–4000) (f). Neuromotor development was normal or slightly delayed. Age at referral for boys was 5.7±4.2 (0.12–13.6)y and for girls 5.6±3.8 (0.4–13.1)y. Mean age of hGH (35 μg/kg per day) treatment initiation for boys was 7.5±4.8, (0.8–15.5)y and of girls 6.8±4.4 (0.8–16.6)y. Other changes during hGH treatment were :
| Height SDS | Weight SDS | BMI | Head circumference SD | |||||
| Sex | m | f | m | f | m | f | m | f |
| Before | −3.3 | −3.1 | −1.8 | −1.8 | 15.8 | 15.5 | −2.6 | −2.7 |
| After | −1.68 | −1.61 | −0.8 | −0.48 | 20.6 | 20.4 | −1.3 | −2.3 |
| Puberty was delayed in boys, less so in girls. Mean age of 1st ejaculation of 14 boys was 17.6±2.2 (14–21)y. Mean age at menarche of 14 girls was 13.8±1.2 (12–16)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.
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