1. Normal and abnormal growth and development Éva Erhardt

2. Growth-promoting hormones Increase Decrease Growth hormone and IGF + Thyroxin + Testosteron + + Oestrogen + +

3. Hormones in puberty

4. Growth chart (girls) Az Országos Longitudinális Gyermeknövekedés-vizsgálat referencia-adatai alapján. © Joubert K., Darvay S., Ágfalvi R. KSH Népességtudományi Kutatóintézet

5. Short stature Slow rate of growth Normal body proportions Lean Obese CHRONIC ORGAN diseases CNS cardiovascular respiratory gastrointestinal renal psychosocial hypopituitarismus hypothyreosis Cushing syndrome

6. Short stature Slow rate of growth Abnormal body proportions Dysmorphic Disproportional features body Prematurity Chromosomal abnormal. Turner-Ullrich syndrome Prader-Willi syndrome

7. Disease specific growth chart (Silver-Russel syndrome)

8. Ullrich-Turner syndrome Presentation Newborn Child Adolescent Young adult Hand/foot oedema Short stature Dysmorphic features Lack of breast development Primary amenorrhea

9. SHOX (Short Stature HomeobOX-containing) gén

10. 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

11. Effect of GH therapy in patients with PWS therapyno therapytherapyno therapy Carrel et al. J Clin Endocrinol Metab 2010, 95(3): 1131-1136

12. 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

13. Transcription factors influencing GH secretion

14. Causes of GH deficiency septo-opticus dysplasia, hypophysis hypoplasia craniopharyngeoma cranial irrradiation (tumor, leukaemia) perinatal asphyxia head trauma idiopathic

15. 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