RESUMEN
OBJECTIVE: To describe the growth, development and puberty in children with congenital IGHD before and during hGH treatment. SUBJECTS: Patients with cIGHD treated by hGH between the years 1958-1992. SETTING: All patients were diagnosed, treated and followed in our clinic. PARTICIPANTS: Data were found in 37/41 patients (21 m, 16 f). 34 had hGH-1A deletions, 7 GHRH-R mutations. Patients, referred after age 25, were excluded. RESULTS: The birth length of 10/37 neonates was 48.29±2.26 (44-50) cm. Birth weight of 28/37 neonates was 3380±370 g (m), 3230±409 g (f). Neuromotor milestones were variable. Age at referral was 5.7±4.2 y (m) and 5.6±3.8 y (f). Initiation of hGH treatment (35µg/kg/d) was 7.5±4.8, (0.8-15.08) y (m) and 6.8±4.36 (0.8-16.5) y (f). Height SDS increased from -4.3 to -1.8 (m) and from -4.5 to -2.6 (f). Head circumference increased from -2.6 to -1.3 (m) and from -2.7 to -2.3 (f). BMI increased from 15.8 to 20.6 (m) and from 15.5 to 20.4 (f). There was a negative correlation between age of hGH initiation and change in height SDS (r=-0.66; ρ<0.01), same for bone age (r=-0.69; ρ<0.01). Upper/lower body ratio decreased from 2.5±2.1 (m±SD) to 1.08±0.1 (ρ<0.0005). Puberty was delayed in boys, less so in girls. Mean age of 1st ejaculation (14 m) was 17.6±2.2 y and of menarche (14 f. was 13.7±1.2 y. In both genders there was a positive correlation between age at start of hGH and age at onset of puberty (r=0.57; ρ<0.01). All reached full sexual development but the penile and testicular sizes were below normal. There was a positive correlation between length of hGH treatment and final testicular volume (r=0.597, ρ=0.05) and a negative correlation between the age at initiation of hGH treatment and final testicular volume(r=-0.523, ρ=0.018). All were obese and hGH treatment increased the adiposity progressively (r=0.418, ρ=0.013). CONCLUSION: Early diagnosis and treatment of cIGHD enables normal or near normal growth, development and puberty.