ESPE Abstracts (2014) 82 P-D-1-2-149

Early Development, Growth and Puberty before and During Treatment of Congenital IGHD

Keren Samuela,b, Rivka Kaulia,b & Zvi Larona,b

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 :

Table 1.
Height SDSWeight SDSBMIHead circumference SD
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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