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Vloga rastnega hormona in inzulinu podobnega rastnega faktorja-I pri familiarni in konstitucionalni obliki nizke rasti : magistrsko delo
Žerjav-Tanšek, Mojca
Inhoduction. Short stature is a frequent problem in daily pediatric practice. Growth hormone (GH) deficiency is a rare cause of a short stature but the treatment with recombinant GH can improve the ...final height successfully. The growth hormone insensitivity (GHI) is frequently discussed in the published literature during the last years. The clinical and biochemical picture is verytypical in the case of the homozygous mutation of GH receptor (Laron syndrome). GHI is characterised by short stature associated with high levels of GH and low levels of insulin-like growth factor I (IGF I) and insuline-likegrowth factor binding protein (IGF BP3). The initial considerations in differential diagnosis of the short stature can exclude manyhormonal and non-hormonal causes of the short stature but some short children have no obvious pathological state. We define this type of short stature as idiopathic (or genetic) short stature (ISS). The children who have constitutional delay in growth (KNR) or the children with short parents (familial short stature - FNR) or with the combination of both (FKNR) are included in a group of idiopathic short stature. We see sometimes the childrenwith rather high GH concentrations and low levels of IGF I in a group of idiopathic short stature. It was proposed that some of these children may secrete GH normally and yet have a defect in the ability of target cells to respond to GH. Such children may have abnormalities in the gene for the GH receptor and the heterozygous mutations of the growth hormone receptor were actually found. These children do not have typical clinical or biochemical characteristics for the complete GHI and they are suggested to have partial GHI. We have proposed that some children in a group of familial short stature might have partial GHI.(Abstract truncated at 2000 characters.)
Type of material - master's thesis
Publication and manufacture - Ljubljana : [M. Žerjav Tanšek], 1999
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