Growth hormone therapy (GHT) can improve growth velocity and final height, but can also accelerate the process of bone growth, which is related to structural bone modeling in both formation and resorption. This study evaluated the capacity of bone turnover markers to predict early growth response to one year of GHT in short stature children born small for gestational age (SGA). This study included 25 prepubertal children born SGA.
View Article and Find Full Text PDFIntroduction: Silver-Russell syndrome (SRS) is characterized by clinical and genetic heterogeneity. SRS is the only disease entity associated with (epi)genetic abnormalities of 2 different chromosomes: 7 and 11. In SRS, the 2 most frequent molecular abnormalities are hypomethylation (loss of methylation) of region H19/IGF2:IG-DMR on chromosome 11p15.
View Article and Find Full Text PDFIntroduction: Estimation of carbohydrate metabolism parameters in the groups: AGA preterm, SGA term, SGA preterm and AGA term.
Material And Methods: 89 children were qualified: group A - AGA preterm 22, group B - SGA preterm 26, SGA term group C - 30 children, AGA - term group D - 11 children; at the age of 6-7 years. Insulin and fasting glucose levels were measure.
Pediatr Endocrinol Diabetes Metab
July 2020
Genetic causes of IUGR: The IGF 2 gene encoding IGF2 synthesis contributes to growth of the foetus. The maternal genes PHLDA2, GRB10, and placental ALS also play a role in the regulation of foetal growth. CDKN1C mutation can lead to IUGR.
View Article and Find Full Text PDFObjective: Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients.
View Article and Find Full Text PDFObjective: Silver-Russell syndrome is heterogeneous both clinically and genetically. The best known genetic aberrations existing in this syndrome are an 11p15 epimutation, present in 20-60% patients, and a maternal uniparental chromosome 7 disomy (7-15%) (upd(7)mat). Children with SRS suffer from physical growth impairments - intrauterine and after birth.
View Article and Find Full Text PDFEndokrynol Diabetol Chor Przemiany Materii Wieku Rozw
August 2006
Background: Children born with a history of Intra-Uterine Growth Retardation (IUGR) may be susceptible for reduced growth velocity and growth deficiency. The causes of GH/IGF-1 resistance are unknown. Klinefelter syndrome is characterized by excessive growth, resulting from hypogonadism, open bone age and a prolonged growth.
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