Childhood growth in boys with congenital hypogonadotropic hypogonadism
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Childhood growth in boys with congenital hypogonadotropic hypogonadism. / Varimo, Tero; Hero, Matti; Laitinen, Eeva-Maria; Miettinen, Päivi J; Tommiska, Johanna; Känsäkoski, Johanna; Juul, Anders; Raivio, Taneli.
I: Pediatric Research, Bind 79, Nr. 5, 2016, s. 705-9.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Childhood growth in boys with congenital hypogonadotropic hypogonadism
AU - Varimo, Tero
AU - Hero, Matti
AU - Laitinen, Eeva-Maria
AU - Miettinen, Päivi J
AU - Tommiska, Johanna
AU - Känsäkoski, Johanna
AU - Juul, Anders
AU - Raivio, Taneli
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
KW - Journal Article
U2 - 10.1038/pr.2015.278
DO - 10.1038/pr.2015.278
M3 - Journal article
C2 - 26720605
VL - 79
SP - 705
EP - 709
JO - Pediatric Research
JF - Pediatric Research
SN - 0031-3998
IS - 5
ER -
ID: 164563317