Tero Varimo1, Matti Hero1, Eeva-Maria Laitinen2, Päivi J Miettinen1,3, Johanna Tommiska1,2, Johanna Känsäkoski1,2, Anders Juul4, Taneli Raivio1,2. 1. Children's Hospital, Helsinki University Hospital, University of Helsinki, Helsinki, Finland. 2. Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland. 3. Research Programs Unit, Molecular Neurology and Biomedicum Stem Cell Center, University of Helsinki, Helsinki, Finland. 4. Department of Growth and Reproduction and EDMaRC, Rigshospitalet, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Abstract
BACKGROUND: We describe childhood growth patterns in a series of well-characterized patients with congenital hypogonadotropic hypogonadism (CHH) with special emphasis on genotype-phenotype correlation. METHODS: We retrospectively evaluated the growth charts of 36 males with CHH (27 from Finland and 9 from Denmark). Fifteen patients (42%) had representative growth measurements during the first year of life. Genetically verified diagnosis of CHH was made in 15 (42%) patients (KAL1, FGFR1, GNRHR, or PROK2). RESULTS: We found a deceleration of growth rate during early childhood. The mean (SD) length standard deviation score (SDS) at birth (0.2 (1.6) SDS) decreased significantly during the first 3 (to -0.9 (1.2) SDS) and 6 mo of life (to -0.7 (1.3) SDS). At the average age of 3 y, mean height SDS (-0.2 (1.3) SDS) did not differ from mid-parental target height (MPH). Mean height SDS reached its nadir (-1.7 (1.4) SDS) at an average age of 15.8 (0.8) years reflecting pubertal failure. Final heights did not differ from MPH. No clear genotype-growth associations emerged. CONCLUSION: Moderate postnatal length deflection is a novel feature of CHH and may reflect early androgen deficiency. Childhood growth patterns are not of clinical value in targeting molecular genetic diagnosis of CHH.
BACKGROUND: We describe childhood growth patterns in a series of well-characterized patients with congenital hypogonadotropic hypogonadism (CHH) with special emphasis on genotype-phenotype correlation. METHODS: We retrospectively evaluated the growth charts of 36 males with CHH (27 from Finland and 9 from Denmark). Fifteen patients (42%) had representative growth measurements during the first year of life. Genetically verified diagnosis of CHH was made in 15 (42%) patients (KAL1, FGFR1, GNRHR, or PROK2). RESULTS: We found a deceleration of growth rate during early childhood. The mean (SD) length standard deviation score (SDS) at birth (0.2 (1.6) SDS) decreased significantly during the first 3 (to -0.9 (1.2) SDS) and 6 mo of life (to -0.7 (1.3) SDS). At the average age of 3 y, mean height SDS (-0.2 (1.3) SDS) did not differ from mid-parental target height (MPH). Mean height SDS reached its nadir (-1.7 (1.4) SDS) at an average age of 15.8 (0.8) years reflecting pubertal failure. Final heights did not differ from MPH. No clear genotype-growth associations emerged. CONCLUSION: Moderate postnatal length deflection is a novel feature of CHH and may reflect early androgen deficiency. Childhood growth patterns are not of clinical value in targeting molecular genetic diagnosis of CHH.
Authors: Ken K Ong; Markus Langkamp; Michael B Ranke; Karen Whitehead; Ieuan A Hughes; Carlo L Acerini; David B Dunger Journal: Am J Clin Nutr Date: 2009-05-27 Impact factor: 7.045
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