Normal and abnormal growth and development Éva Erhardt

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

Hormones in puberty

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

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

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

Disease specific growth chart (Silver-Russel syndrome)

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

SHOX (Short Stature HomeobOX-containing) gén

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

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

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

Transcription factors influencing GH secretion

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

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