Spontaneous growth in growth hormone deficiency from birth until 7 years of age: development of disease-specific growth curves.

BACKGROUND: Little is known about spontaneous growth of growth hormone (GH)-deficient children during infancy and childhood. METHODS: Retrospectively, we calculated disease-specific pretreatment percentiles for height, weight, BMI and growth velocity of 113 GH-deficient boys and 41 GH-deficient girls from birth until 7 years of age, by mean and standard deviation. RESULTS: Infants with idiopathic GH deficiency (GHD) grow in disease-specific percentile channels. There is a significant difference in length and weight from birth onward compared to regional reference (p<0.001). Boys' birth length was 48.7+/-2.9 cm (p<0.001; -1.31+/-1.11 SDS), birth weight was 3.09+/-0.61 kg (p<0.01; -0.92+/-1.19 SDS), and BMI at birth was 12.9+/-1.7. Girls' birth length was 48.1+/-3.4 cm (p<0.05; -1.17+/-1.51 SDS), birth weight was 2.92+/-0.60 kg (p=0.05; -1.08+/-1.19 SDS), and BMI at birth was 12.6+/-2.2. There was a continuous loss of growth velocity, despite a wide variance in the first years, so height deficit became more evident with increasing age. CONCLUSION: GHD is a congenital disease no matter when height deficit becomes clinically evident, because GH-deficient children grow in disease-specific percentile channels with a highly significantly reduced length and weight, which demonstrates that GH is essential for adequate growth in infancy and early childhood.

Molecular cytogenetics and phenotype characterization of a de novo pure partial trisomy 10(q24.33-qter).

The molecular-cytogenetic characterization of a de novo pure partial trisomy 10(q24.33-qter) is described. This report provides information about the postnatal phenotype. The clinical findings observed in this case support the conclusion that the more severe disease related genes are located between 10q24.1 and q24.33.

Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH.

Chromosomal microdissection and subsequent application of the generated probe for FISH (microFISH) allowed the characterization of a small extra band found by routine cytogenetic analysis on the short arm of chromosome 19 in a mentally retarded boy with various dysmorphic features. There is no cytogenetically visible loss of chromosome 19 material as verified by hybridization results using a subtelomeric probe for this region and therefore all anomalies found in the patient are most likely due to the partial trisomy of 22q13-qter. The approach used in this study should be generally applicable in comparable cases and allows a fast and straightforward identification of the origin of extra chromosomal material, which otherwise is very laborious or difficult to characterize. Clinical features of this 9-year-old patient such as mental and motor retardation, microcephaly, microphthalmia and hypogenitalism are compared with other cases showing this rare chromosomal aberration.