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

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 (35 mu g/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 -43 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; rho < 0.01), same for bone age (r = -0.69; rho < 0.01). Upper/lower body ratio decreased from 2.5 +/- 2.1 (m +/- SD) to 1.08 +/- 0.1 (rho < 0.0005). Puberty was delayed in boys, less so in girls. Mean age of 1st ejaculation (14 m) was 17.6 +/- 2.2y 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; rho < 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, rho = 0.05) and a negative correlation between the age at initiation of hGH treatment and final testicular volume(r = -0.523, rho = 0.018). All were obese and hGH treatment increased the adiposity progressively (r = 0.418, rho = 0.013). Conclusion: Early diagnosis and treatment of cIGHD enables normal or near normal growth, development and puberty. (C) 2015 Elsevier Ltd. All rights reserved.