Thyroid Disease
Embryology TG develops from floor of Pharynx at 4 weeks travels inferiorly thyroglossal tract disappears - cystic elements may remain as thyroglossal cyst Diverticulum becomes bi-lobed & fuses with ventral aspect of 4th pharyngeal pouch Organogenesis under genetic control - transcription factors TTF1, TTF2, Pax8 crucial
HypothalamusTRH PituitaryTSH Thyroid GlandThyroid hormone T4
Thyroid Gland95% T4 5% T3 T4 deiodinated peripherally to T3 and rT3
Circulating Thyroid Hormones 99.5% protein bound 0.5% free and active Exert negative feedback to hypothalamus and Pituitary
Thyroid Gland Controlled by TSH 1. Iodide 2. Iodide Iodine 3.Iodine + tyrosine mono and diiodotyronine 4. Coupling T3 and T4 5. Proteolytic enzyme T4 and T3
Action of Thyroid Hormones 1.Speed up metabolism 2.Essential for:growth mental development 3.Increased sensitivity of CNS and CVS to catecholamines
Disorders Hypothyrodism Hyperthyroidism Congenital Acquired
Congenital Hypothyroidism Incidence in Europe 1 in 3,500 Illingworth, 1983
Causes of Congenital Hypothyroidism 1. Dysgenesis (85%) 2.Ectopic 3. Enzyme defect (10%) 4. Pituitary, Hypothalamic 5. Iodine deficiency
Congenital Hypothyroidism - Symptoms Sleepiness Poor Feeding Prolonged jaundice Constipation Hoarse cry FHx congenital hypothyroidism Maternal history of thyroid disease
Congenital Hypothyroidism - Signs Jaundice Cold Large Tongue Coarse facies Large fontanelles Hypotonia Distended abdomen Umbilical hernia Slow reflexes
Congenital Hypothyroidism Diagnosis TSH T4 (low or normal) Xray knee Technetium scan
Treatment L-Thyroxine Excess - craniosynostosis
Congenital Hypothyroidism Prognosis 1.Early treatment - screening programme 2.Social class
Hypothyroidism in Older children 1. Congenital 2. Autoimmune thyroiditis Hashimoto’s thyroiditis Associated with other conditions eg DM, Addisons,Trisomy 21, TS, 3. Post radiation 4. Pituitary, Hypothalamic (TSH level low for FT4) 5. Sick euthyroid syndrome
Hypothyroidism in Older children - symptoms Weight gain tiredness constipation cold intolerance slowing of growth +/- short stature ? poor school performance Delayed puberty (occ precocious), irregular periods History of SUFE, other AI disease Family history
Hypothyroidism in Older children - signs Myxoedatous facies short stature goitre obesitydelayed reflexes dry skinpuberty gen delay Increased body hair Pallor Vitiligo Proximal muscle weakness
Hypothyroidism in Older children – Diagnosis and treatment FT4 TSH TPO Thyroxine 100ųg/m 2 /day (gradually reach dose) ? Other AI disease some remit spontaneously
Normal Thyroid Gland Not visible Barely palpable Matovinovic, JAMA 1961
Simple or Colloid Goitre Clinically euthyroid TSH T4 normal Thyroid antibodies
Neonatal Hyperthyroidism TransientMother high TSI PersistentFamily History of Graves
Hyperthyroidism - Symptoms 1.CNS - nervous, behaviour, poor school performance 2. GIT - appetite, weight loss, diarrhoea 3. Heat intolerance TSH suppressed and peferential conversion T4-T3 measure T3
Hyperthyroidism - Signs 1.Eyes 2.Tachycardia 3. Tremor 4. Brisk tendon reflexes 5. Increased growth and bone age
Investigations FT4, FT3, TSH TPO TRAB Ultrasound Technetium Scan +/- TRH Test
Treatment of Thyrotoxicosis Carbimazole Side effects:rash arthralgia, SLE neutropenia 2 year course; 50% remission Radioactive Iodine Surgery