Three years of GH treatment in short children born SGA results in a normalization of height during childhood. Also, bone maturation increased proportionately to the height gain. At start, mean values of BMD and BMAD were significantly reduced but normalized during GH treatment. We did not find an indication to treat very short SGA children (H SDS < or = -3.00) with a higher GH dose. We rather suggest to start GH treatment at an early age in order to achieve a normal height before puberty starts.

17Beta-hydroxysteroid dehydrogenase-3 (17betaHSD3) deficiency is an autosomal recessive form of male pseudohermaphroditism caused by mutations in the HSD17B3 gene. In a nationwide study on male pseudohermaphroditism among all pediatric endocrinologists and clinical geneticists in The Netherlands, 18 17betaHSD3-deficient index cases were identified, 12 of whom initially had received the tentative diagnosis androgen insensitivity syndrome (AIS). The phenotypes and genotypes of these patients were studied. Endocrine diagnostic methods were evaluated in comparison to mutation analysis of the HSD17B3 gene. RT-PCR studies were performed on testicular ribonucleic acid of patients homozygous for two different splice site mutations. The minimal incidence of 17betaHSD3 deficiency in The Netherlands and the corresponding carrier frequency were calculated. Haplotype analysis of the chromosomal region of the HSD17B3 gene in Europeans, North Americans, Latin Americans, Australians, and Arabs was used to establish whether recurrent identical mutations were ancient or had repeatedly occurred de novo. In genotypically identical cases, phenotypic variation for external sexual development was observed. Gonadotropin-stimulated serum testosterone/androstenedione ratios in 17betaHSD3-deficient patients were discriminative in all cases and did not overlap with ratios in normal controls or with ratios in AIS patients. In all investigated patients both HSD17B3 alleles were mutated. The intronic mutations 325 + 4;A-->T and 655-1;G-->A disrupted normal splicing, but a small amount of wild-type messenger ribonucleic acid was still made in patients homozygous for 655-1;G-->A. The minimal incidence of 17betaHSD3 deficiency in The Netherlands was shown to be 1: 147,000, with a heterozygote frequency of 1:135. At least 4 mutations, 325 + 4;A-->T, N74T, 655-1;G-->A, and R80Q, found worldwide, appeared to be ancient and originating from genetic founders. Their dispersion could be reconstructed through historical analysis. The HSD17B3 gene mutations 326-1;G-->C and P282L were de novo mutations. 17betaHSD3 deficiency can be reliably diagnosed by endocrine evaluation and mutation analysis. Phenotypic variation can occur between families with the same homozygous mutations. The incidence of 17betaHSD3 deficiency is 0.65 times the incidence of AIS, which is thought to be the most frequent known cause of male pseudohermaphroditism without dysgenic gonads. A global inventory of affected cases demonstrated the ancient origin of at least four mutations. The mutational history of this genetic locus offers views into human diversity and disease, provided by national and international collaboration.

The aim of this study was to study the effect of chronic lung disease (CLD) and dexamethasone treatment on body composition in preterm infants (birthweight > 1500g). In addition, anthropo‐metric measurement of body composition were compared with dual‐energy X‐ray absorptiometry (DXA). Fourteen preterm infants with CLD and a comparison group of 18 preterm infants were studied until 3 mo corrected age. CLD infants received approximately 20 kcal kg‐1 per day extra nutritional intake during dexamethasone treatment until term. At term no differences were found between CLD and no CLD infants for percentage bone mass (1.4 ± 0.2 vs 1.4 ± 0.1%), fat mass (18.7 ± 4.5 vs 17.4 ± 3.5%), lean body mass (79.9 ± 4.6 vs 81.2 ± 3.5%) or bone mineral density (0.15 ± 0.02 vs 0.15 ± 0.01%). At 3 mo corrected age both groups were also similar for bone mass (1.6 ± 0.1 vs 1.6 ± 0.2%), fat mass (22.6 ± 5.5 vs 24.5 ± 5.7%), lean body mass (75.8 ± 5.7 vs 74.0 ± 5.8%) and bone mineral density (0.20 ± 0.02 vs 0.20 ±0.01%). All anthropometric measurements showed a high correlation with body composition. However, calculated fat mass was 56.7 ± 8.8% lower than fat mass measured with DXA. Conclusion: Body composition at term and 3 mo corrected age in preterm infants treated with dexamethasone for CLD, who received extra caloric intake until term, did not differ from that in preterm infants without CLD.

The present growth data are in conformity with the data of the earlier 24-hour GH profiles. The growth response and plasma levels of growth related factors after 2 years GH on a total dose of 6 IU/m2/day in combination with low-dose oestrogens were not significantly different between the once daily and the twice daily GH injection regimen.

The aim of the study was to test the hypothesis that daily administration of growth hormone using the Medi‐Jector® results in fewer adverse psychological responses than needle injection with a multidose injection pen. The Medi‐Jector is a needle‐free injection device that can deliver growth hormone subcutaneously through jet injection. The group studied consisted of 18 children aged 10 y or over who were participating in a study of the bioequivalence and bioequipotence of the administration of growth hormone through jet injection or needle injection. Previously, all subjects had received growth hormone therapy with commercially available multidose injection pens. The study was designed as a prospective, randomized, two‐period cross‐over trial. A questionnaire was used to assess psychological responses such as non‐compliance, opinion on ease of preparation, affective responses to administration and local side‐effects, as well as overall preference. In addition, the subjects kept a diary during the study. The subjects found the Medi‐Jector less offputting (p < 0:01), less painful with respect to both frequency (p <0.04) and intensity (p < 0.01) and less unpleasant (p < 0.05) than a multidose injection pen with a 28G needle (p <0.01). No difference in compliance was detected. Most subjects preferred the Medi‐Jector for future use (p < 0.05). The mean score on a 1–10 point scale (10 is excellent) was 7.9 (SD 1.4) for the Medi‐Jector and 6.8 (SD2.3) for the multidose injection pen (p <0.08). The prevalence of visible bruises each day was higher (p < 0.01) with the Medi‐Jector (2.5, SD 2.1) than with the multidose injection pen (0.7, SD 1.1), but children showed indifferent affective responses to bruising. Thirteen out of 18 subjects decided to continue therapy with the Medi‐Jector (p < 0.06). It is concluded that use of the Medi‐Jector in growth hormone therapy tends to lead to fewer adverse psychological responses than a multidose injection pen with 28G needles.