Paediatric Endocrine Disorders F Thyroid disorders F Childhood diabetes mellitus F Pubertal disorders - early/late F Pituitary disorders - hypopituitarism F Adrenal disorders - CAH

CHILDHOOD DIABETES MELLITUS F Type 1, IDDM juvenile onset F Type 2, NIDDM adult onset F Worldwide incidence For IDDM <15 years FINLAND 35-40/100,000/year USA/ENGLAND /100,000/year JAPAN 1.7/100,000/year HONG KONG 1 - 2/ /year F ETIOLOGY : TYPE 1 - Genetic factors Autoimmunity - HLA: DR, DQ Infection - coxsakie Cow milk intake, climate

DIAGNOSIS OF CHILDHOOD IDDM F SYMPTOMS - Polyuria, Polydipsia, Polyphagia and weight loss, duration of symptoms: 2-3 weeks F 10 to 50% presented with DKA at Dx, pH F Differential Dx: NONE F Urine and blood for Ketone bodies: positive

Childhood DM Type 1 DM :Lab Dx F Glucose tolerance test - not needed for Dx F Random glucose at Dx = mmol/l F 80-90% Anti-glutamic acid decarboxylase +ve (anti- GAD) in Caucasians

Type 1 DM : MANAGEMENT Principles of treatment 1.Meal planning (Diet): 3 meals + 3 snacks 2. Insulin injections (1 to 4/day or pump) 3.Blood sugar testing 4.Adequate physical activity 5. Psychosocial support - psychological/financial 6. Education - patients, parents and relatives

Precocious puberty - Approach F normal puberty Tanner staging- breast, pubic hair, genitalia median (range) onset: female male F sequence of events female : breast growth spurt PH menses male :testes enlargement PH growth spurt

Precocious Puberty F Premature development of pubertal changes ( Which may or may not follow the normal sequence of events) F Premature thelarche Isolated premature development of the breast F Premature adrenarche Isolated premature development of sexual hair F Premature menarche

Differential Dx- Precocious Puberty Brain (Infection, trauma, tumor) Pituitary FSH LH Gonads (tumor)Adrenal (tumor CAH, steroid) Injection Ingestion Sex steroidPubertal changes TopicalGrowth Spurt

Precocious Puberty- History 1. History: Timing, sequence of pubertal changes 2. Plot the growth curve 3. R/O injection/ingestion of hormone; topical cream 4. Family Hx of early puberty 5. History of CNS injury 6. Central symptoms - headache; vision 7. Peripheral symptoms - abdominal pain/distention 8. Family Hx consanguinity: CAH

Precocious Puberty - O/E 1. Accurate documentation of pubertal changes Breast - true tissue or fat, galactorrhoea Pubic hair Testicular size and mass 2. Facial acne 3. Apocrine smell 4. Abdominal mass 5. Signs of virilization - body hair, clitoral hypertrophy 6. CNS - Fundi, visual field defect 7. Skin - McCune-Albright syndrome: cafe-au-lait spots

Preliminary Diagnosis and Investigation Working diagnosis: 1. Isolated pubertal changes without acceleration of growth rate. i.e. premature thelarche or adrenarche 2. True central or peripheral precocious puberty - increased growth rate INVESTIGATIONS: Initial: Bone age Specialized: Sex hormone LHRH test CT/ MRI head, U/S or CT abdomen Test for CAH

Congenital Adrenal Hyperplasia :CAH Congenital enzyme deficiency - Resulting in deficiency of steroid production Most common = 21 Hydroxylase deficiency Autosomal recessive Gene coded on chromosome 6 (HLA) Others - 11 or 17 hydroxylase Presentations: 1. Ambiguous genitalia (girls) 2. Salt losing crises (boys) 3. Precocious puberty (simple virilization)

CAH - Con’t F Salt losing crisis - Dehydration, Shock - Na: mmol/l, K: 7-8mmol/l - DDX - Sepsis, Renal failure F Treatment - replace corticosteroid - replace aldosterone - monitor growth, BP, Na, K, 17 OH-P, Renin, +/-Bone age

Diagnosis - case F Presentation 1) adrenal crisis (boys) 2) ambiguous genitalia( girls) 3) simple virilizing form CAH (late onset CAH)

Summary 1) Hyper & Hypothyroidism 2) Normal and abnormal puberty - approach Hx/ exam and Rx 3) CAH - presentation and pathophysiology