Growth, development, puberty and adult height before and during treatment in children with congenital isolated growth hormone deficiency

• Children with congenital isolated GH deficiency who are not treated at an early age have a tendency for slow neuromotor and pubertal development.
• In the majority of patients the final height is in the lower limits of normal or even below the 3″ centile.

ObjectiveTo describe the growth, development and puberty in children with congenital IGHD before and during hGH treatment.SubjectsPatients with cIGHD treated by hGH between the years 1958-1992.SettingAll patients were diagnosed, treated and followed in our clinic.ParticipantsData 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.ResultsThe 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 (35 μg/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).ConclusionEarly diagnosis and treatment of cIGHD enables normal or near normal growth, development and puberty.