PAEDIATRIC ENDOCRINOLOGY DR NOMAN AHMAD CORK UNIVERSITY HOSPITAL 1 Presentation Outline Paediatric endocrinology scope Physiology of endocrine system Normal growth Prerequisites Parameters Short stature evaluation Congenital hypothyroidism Congenital Adrenal Hyperplasia 2 Paediatric Endocrinology Scope Regulation of normal growth Maintenance of body metabolism Stress management Fluid and electrolyte balance Bone mineral homeostasis Sex differentiation Puberty Glucose metabolism 3 Pituitary Gland 4 Pituitary Gland 5 Pituitary Gland Pituitary Gland Adenohypophysis Anterior lobe Somatotrophs Growth hormone Neurohypophsis Middle Lobe MSH & Endorphins Posterior Lobe AVP Oxytocin Thyrotrophs TSH Lactotrophs Prolactin Gonadotrophs LH & FSH Corticotrophs ACTH 6 Hypothalamic-Pituitary GH-IGF1 Axis 7 Growth Hormone Secretion IGF1 8 Hypothalamic-Pituitary-Thyroid Axis TSH 9 Hypothalamic-Pituitary Adrenal Axis 10 Cortisol Production 8.00 AM Cortisol Or ACTH stimulation test 11 Renin-Angiotensin-Aldosterone ELECTROLYTES BLOOD PRESSURE 12 Hypothalamic-Pituitary Gonadal Axis LH FSH GnRH Stimulation 13 Bone Mineral Metabolism 14 Glucose Metabolism Insulin Glucagon Growth hormone Glucocorticoids Catecholamines 15 Normal Growth And Evaluation of Short Stature 16 Normal Growth 17 Normal Growth 18 Normal Growth 19 Normal Growth Growth represents general health of a child Growth is analysed with Percentile SDS Height velocity Weight for height Mid parental height 20 What does a child need to grow? Food (money) Hormones Good genes A good start (intrauterine) Good general health Love 21 Important Growth Factors Prenatal Postnatal Insulin IGF-1 and IGF-2 Growth hormone and IGF-1 Thyroxin Puberty Gonadal hormones 22 Constitutional Delay in Growth and Adolescence (CDGA) Late bloomers Slowing in growth and weight in first 3 years Normal growth rate Delayed bone age Positive family history Normal final height Common in boys Benefit with gonadal steroids 23 Familial Short Stature Normal intrauterine growth Linear growth cross percentiles downward in first 2 years or during puberty Bone age is not delayed Final height is short and consistent with mid parental height or family history 24 Pathological Short Stature Absolute height < 3rd percentile Abnormal height velocity Height SDS ->2.5 SDS Weight to height relationship Upper lower segment ratio Arm span(> 6 cm) Mid parental height 25 26 Measurements 27 Mid Parental Height Target Height is MPH ± 10 cm Boys Father Ht. +Mother Ht. + 13 2 Girls Father Ht. + Mother Ht – 13 2 28 Upper to lower segment ratio Lower segment: upper end of symphysis pubis to floor Upper segment: Height – LS U/L decline from birth to puberty Slight increase at puberty Precocious puberty inc. U/L Delayed puberty dec. U/L 29 Upper to lower segment ratio 30 Measurements Weight BMI Growth Velocity Arm span 31 Causes of Short Stature Genetic IUGR or SGA Chromosomal Nutritional Chronic Illness Endocrine Bone Dysplasia 32 Causes of Short Stature Short and obese Short and thin Hormone deficiency Syndrome BMI Constitutional Malnutrition Systemic disease Tall and obese Exogenous obesity 33 Endocrine Causes Growth hormone deficiency or resistance Hypothyroidism Cushing syndrome Precocious puberty 34 Diagnostic Evaluation FBC Electrolytes ESR BUN, creatinine Bone profile LFT Glucose Coeliac screen Urinalysis Bone age IGF-1 Free T4 and TSH Growth hormone 24 hrs. urinary cortisol Dexamethasone suppression test Karyotype 35 Congenital Hypothyroidism 36 Congenital Hypothyroidism 1:2000 to 1:4000 live births F:M 2:1 Most common treatable cause of mental retardation Thyroid dysgenesis Ectopy (2/3), hypoplasia, agenesis Hormone dysgenesis TSH (heel prick) Isotope scan 37 Isotope Scan 38 Congenital Adrenal Hyperplasia CAH is disorder of adrenal cortex 21 hydroxylase deficiency Cortisol deficiency ± Aldosterone deficiency Androgen excess Girls present with virilization Boys present with salt losing crisis 39 Congenital Adrenal Hyperplasia 40 41