Introduction: Congenital isolated GH deficiency (cIGHD) is a rare genetic disease occurring mostly in consanguineous families caused by hGH-I gene deletion or GHRH – receptor mutations.
Objective: To assess neonatal size, linear and head growth and pubertal sequence in a cohort of children with cIGHD.
Subjects: The charts of 37/41 patients with cIGHD (21m, 16f). 34 patients had hGH-I deletions, GHRH-R mutations.
Methods: All patients were diagnosed, treated by hGH and followed by us.
Results: Mean birth length of 10/37 neonates was 48.3±2.3 (44-50)cm. Mean birth weight of 32/37 was 3290±480, (m), 3090±480gm (f) (2300-4000gm). Neuromotor development was normal or slightly delayed. Age at referral for boys was 5.7±4.2 (0.12-13.6yrs) and for girls 5.6±3.8 (0.4-13.1yrs). Mean age of initiation of hGH treatment (35μg/kg/d) was 7.5±4.8 (0.8-15yrs) for boys 6.8±4.4 (0.8-16yrs) for girls. The mean changes during hGH treatment were:
| |
Height SDS |
Height SDS |
Weight SD |
Weight SD |
BMI |
BMI |
Head Circumference
SD
|
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 more in boys, than in girls. Mean age of 1st ejaculation 14 boys was 17.6±2.2 (14-21yrs). Mean age at menarche of 14 girls was 13.8±1.2 (12-16yrs). All reached full sexual development but the penile and testicular size was below normal.
Conclusion: Earlier initiation and longer duration of hGH treatment achieved greater height but did not normalize it in all patients.
