title: Childhood growth in boys with congenital hypogonadotropic hypogonadism.
abstract: We describe childhood growth patterns in a series of well-characterized patients with congenital hypogonadotropic hypogonadism (CHH) with special emphasis on genotype-phenotype correlation.
  
  
  
  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).
  
  
  
  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.
  
  
  
  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.affiliation: Children's Hospital, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
authors.forename: Tero
authors.initials: T
authors.lastname: Varimo
authors.affiliation: Children's Hospital, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
authors.forename: Matti
authors.initials: M
authors.lastname: Hero
authors.affiliation: Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland.
authors.forename: Eeva-Maria
authors.initials: EM
authors.lastname: Laitinen
authors.affiliation: Children's Hospital, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.|Research Programs Unit, Molecular Neurology and Biomedicum Stem Cell Center, University of Helsinki, Helsinki, Finland.
authors.forename: Päivi J
authors.initials: PJ
authors.lastname: Miettinen
authors.affiliation: Children's Hospital, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.|Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland.
authors.forename: Johanna
authors.identifier: 0000-0001-7958-8262
authors.initials: J
authors.lastname: Tommiska
authors.affiliation: Children's Hospital, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.|Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland.
authors.forename: Johanna
authors.initials: J
authors.lastname: Känsäkoski
authors.affiliation: Department of Growth and Reproduction and EDMaRC, Rigshospitalet, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Anders
authors.initials: A
authors.lastname: Juul
authors.affiliation: Children's Hospital, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.|Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland.
authors.forename: Taneli
authors.initials: T
authors.lastname: Raivio
mesh_terms: D000293:Adolescent; D041923:Adolescent Development; D000728:Androgens / Q000172:deficiency; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003718:Denmark; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005387:Finland; D005768:Gastrointestinal Hormones / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D007006:Hypogonadism / Q000503:physiopathology*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D009479:Neuropeptides / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics; D011966:Receptors, LHRH / Q000235:genetics; D012189:Retrospective Studies
chemical_list: C076266:ANOS1 protein, human; D000728:Androgens; D016326:Extracellular Matrix Proteins; C484844:GNRHR protein, human; D005768:Gastrointestinal Hormones; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C423608:PROK2 protein, human; D011966:Receptors, LHRH; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1