Paediatric Endocrine Disorders

Thyroid disorders Childhood diabetes mellitus Pubertal disorders - early/late Pituitary disorders - hypopituitarism Adrenal disorders - CAH

CHILDHOOD DIABETES MELLITUS

Type 1, IDDM juvenile onset Type 2, NIDDM adult onset Worldwide incidence For IDDM <15 years FINL

AND 35-40/100,000/year USA/ENGLAND 13- 20/100,000/year JAPAN 1.7/100,000/year HONG KONG 1 - 2/100.000/year

ETIOLOGY : TYPE 1 - Genetic factors Autoimmunity - HLA: DR, DQ Infection - coxsakie Cow milk intake, climate

DIAGNOSIS OF CHILDHOOD IDDM

SYMPTOMS

- Polyuria, Polydipsia, Polyphagia and weight l

oss, duration of symptoms: 2-3 weeks

10 to 50% presented with DKA at Dx, pH 6.9-7.2

Differential Dx: NONE

Urine and blood for Ketone bodies: positive

Childhood DM Type 1 DM:Lab Dx

Glucose tolerance test - not needed for Dx

Random glucose at Dx = 20-30 mmol/l

80-90% Anti-glutamic acid decarboxylase +ve (anti- G

AD) 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

normal puberty

Tanner staging- breast, pubic hair, genitalia

median (range)

onset: female 10 7- 12.5

male 11.5 9- 14.5 sequence of events

female : breast growth spurt PH menses

male :testes enlargement PH growth spurt

Precocious Puberty

Premature development of pubertal changes

( Which may or may not follow the normal sequence o

f events)

Premature thelarche

Isolated premature development of the breast

Premature adrenarche

Isolated premature development of sexual hair

Premature menarche

Differential Dx- Precocious Puberty

Brain (Infection, trauma, tumor)

Pituitary

FSH

LH

Gonads (tumor) Adrenal (tumor

CAH, steroid)

Injection

Ingestion Sex steroid Pubertal changes

Topical Growth 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 productionMost 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

Salt losing crisis

- Dehydration , Shock

- Na: 105-115mmol/l , K: 7-8mmol/l

- DDX - Sepsis, Renal failure

Treatment

- replace corticosteroid

- replace aldosterone

- monitor growth, BP, Na, K, 17 OH-P, Renin, +/-Bone age

Diagnosis - case

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