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Normal and abnormal growth and development Éva Erhardt
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Growth-promoting hormones Increase Decrease Growth hormone and IGF + Thyroxin + Testosteron + + Oestrogen + +
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Hormones in puberty
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Growth chart (girls) Az Országos Longitudinális Gyermeknövekedés-vizsgálat referencia-adatai alapján. © Joubert K., Darvay S., Ágfalvi R. KSH Népességtudományi Kutatóintézet
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Short stature Slow rate of growth Normal body proportions Lean Obese CHRONIC ORGAN diseases CNS cardiovascular respiratory gastrointestinal renal psychosocial hypopituitarismus hypothyreosis Cushing syndrome
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Short stature Slow rate of growth Abnormal body proportions Dysmorphic Disproportional features body Prematurity Chromosomal abnormal. Turner-Ullrich syndrome Prader-Willi syndrome
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Disease specific growth chart (Silver-Russel syndrome)
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Ullrich-Turner syndrome Presentation Newborn Child Adolescent Young adult Hand/foot oedema Short stature Dysmorphic features Lack of breast development Primary amenorrhea
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SHOX (Short Stature HomeobOX-containing) gén
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Prader-Willi syndrome First description in 1956 Complex genetic diesease - Paternal delation of 15q11-13 (70%) - microdeletion (FISH) - maternal uniparental disomy (20 %) - imprinting mutation(1-2 %) - translocation of paternal chromosome Symptoms (Holm, Cassidy-diagnostic criteria) muscle hypotony, hypogonadism, mental retardation, obesity
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Effect of GH therapy in patients with PWS therapyno therapytherapyno therapy Carrel et al. J Clin Endocrinol Metab 2010, 95(3): 1131-1136
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Short stature (1) Short stature Slow rate of growth Normal body proportions Lean Obese CHRONIC ORGAN diseases CNS cardiovascular respiratory gastrointestinal renal psychosocial hypopituitarismus hypothyreosis Cushing syndrome
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Transcription factors influencing GH secretion
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Causes of GH deficiency septo-opticus dysplasia, hypophysis hypoplasia craniopharyngeoma cranial irrradiation (tumor, leukaemia) perinatal asphyxia head trauma idiopathic
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Laboratory diagnosis of growth hormone (GH) deficiency Rnadom GH measurement is not valid Provocation tests are needeed - GLUCAGON -INSULIN IGF-1, IGFBP3 TSH(T4), Cortisol, FSH, LH, Prolactin
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