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Congenital Hypothyroidism.pptx
- 2. Congenital Hypothyroidism PROF. DR SABRY GHANEM
- 3. Defeination Insufficient secretion of thyroid hormones. Occurring in approximately 1/4000 births. It is twice more common in girls than in boys.
- 4. Etiology Thyroid dysgenesis (85%): Usually sporadic; Resulting in thyroid aplasia/ hypoplasia, Ectopic thyroid (lingual/sublingual). Thyroid hormone biosynthetic defect (15%) Iodine deficiency. Congenital TSH deficiency (rare): associated with other pituitary hormone deficiencies.
- 5. Clinical Features Usually non-specific; they are difficult to detect in first month of life. They include: Umbilical hernia; Prolonged jaundice; Constipation; Hypotonia; Hoarse cry; Poor feeding; Excessive sleepiness;
- 6. Clinical Features cont.. Without early hormone replacement therapy clinical full features of hypothyroidism is known as “cretinism.” Large tongue Umbilical hernia Edema Mental retardation; developmental delay Anterior and posterior fontanels wide
- 9. Clinical Features cont.. Mouth open Hypotonia Short stature Increased sleep, constipation, decreased temperature, skin cold and mottled, peripheral anemia; Apathetic appearance
- 10. Diagnosis National neonatal biochemical screening programs. Test in 1st week of life. Blood spot: filter paper collection (e.g. ‘Guthrie card’). if result positive TSH and freeT4 estimation: TSH > 40 with low T4 start treatment TSH > 20 and < 40 second sample after 2 weeks : TSH > 9 start treatment TSH < 9 no treatment
- 11. Diagnosis cont.. Thyroid imaging is also recommended to determine whether the cause is due to thyroid dysgenesis or due to hormone biosynthetic disorder. Thyroid ultrasonography. Radio-nucleotide scanning (99Tc or 131I).
- 12. Treatment The earlier the treatment, the better the prognosis Oral thyroid hormone replacement therapy levothyroxine (initial dose 10–15micrograms/kg/day). Monitoring therapy Monitor serum TSH and free T4 levels: Every 1–2mths 1st year; Every 2–3mths age 1–2yrs; Every 4–6mths age >2yrs. Maintain: T4 level in upper half of normal range; TSH in lower end of normal range.
- 14. Acquired Hypothyroidism Prevalence of 0.1–0.2% in the population. The incidence in girls is 5–10 times greater than boys.
- 15. Etiology Acquired hypothyroidism may be due to a primary thyroid problem or indirectly to a central Disorder of hypothalamic– pituitary function. Primary hypothyroidism (raised TSH; low freeT4/T3): Autoimmune (Hashimoto’s or chronic lymphocytic thyroiditis). Iodine deficiency: most common cause worldwide. Subacute thyroiditis. Drugs (e.g. amiodarone, lithium). Post-irradiation
- 16. Etiology cont.. Central hypothyroidism (low serum TSH and low free T4): Hypothyroidism due to either pituitary or hypothalamic dysfunction. Intracranial tumors/masses. Post-cranial radiotherapy/surgery. Developmental pituitary defects: isolated TSH deficiency; multiple pituitary hormone deficiencies
- 17. Clinical features The symptoms and signs of acquired hypothyroidism are usually insidious Extremely difficult to diagnose clinically A high index of suspicion is needed.
- 18. Clinical features cont.. Goiter: primary hypothyroidism. Increased weight gain/obesity. Decreased growth velocity/delayed puberty. Delayed skeletal maturation (bone age). Fatigue: mental slowness; deteriorating school performance. Constipation: cold intolerance; bradycardia.
- 19. Clinical features cont.. Dry skin, coarse hair. Pseudo-puberty: Girls: isolated breast development; Boys: isolated testicular enlargement. Slipped upper (capital) femoral epiphysis: hip pain/limp.
- 20. Diagnosis Diagnosis is dependent on biochemical confirmation of hypothyroid state. Thyroid function tests: high TSH/low free T4. Thyroid antibody screen. Raised antibody titers: Antithyroid peroxidase; Anti-thyroglobulin; TSH receptor (blocking type).
- 21. Treatment Oral Levothyroxine (25–200 micrograms/day). Monitor thyroid function test every 4–6mths during childhood. Monitor growth and neurodevelopment
- 23. Congenital adrenal hyperplasia Definition: Inherited autosomal recessive disorders due to deficiency of enzymes required for cortisol synthesis
- 24. Congenital adrenal hyperplasia Affected enzymes: 21-hydroxylase deficiency: 90% 11-Beta hydroxylase deficiency: 5–8% 3-OH-steroid dehydrogenase: <5% Milder deficiencies
- 25. Classification: Depending on the residual enzymatic activity, CAH due to 21α-hydroxylase deficiency is classified into: 1- Classical: Salt-wasting (75 %). have residual 21α-hydroxylase enzymatic activity <1 %; “Mild forms” Simple virilizing (25 %) have 1–5 % residual enzymatic activity “Severe form” 2- Non-classical variants: Have 20–50 % residual enzymatic activity “Milder deficiencies”
- 27. Presentation A child with salt-wasting CAH manifests with: Lethargy, Recurrent vomiting, Dehydration Hypotension.
- 28. Presentation cont.. The biochemical abnormalities include: Hyperkalemia, Hyponatremia, Metabolic acidosis. The salt crisis in neonates with CAH usually manifests at 1– 4 weeks of life
- 29. Clinical presentation in females 1- Severe form: Ambiguous genitalia at birth due to excess adrenal androg en production in utero. 2- Mild forms: Usually females are identified later in childhood Precocious pubic hair Clitoromegaly Accelerated growth and skeletal maturation
- 33. Clinical presentation in females cont.. 3- Milder form: May present in adolescence or adulthood Oligomenorrhea Hirsutism and/or infertility
- 34. Clinical presentation in males: 1- Severe form: Usually results in salt wasting at age 1–4 weeks Recurrent vomiting Dehydration Hypotension Metabolic acidosis Hyponatremia Hyperkalemia Shock
- 35. Clinical presentation in males cont.. 2- Mild form: May present later in childhood Early development of pubic hair Phallic enlargement Accelerated linear growth Advancement of skeletal maturation In male infants CAH may be misdiagnosed as pyloric sten osis
- 36. Clinical features Hypertension associated with: 11hydroxylase deficiency 17a-hydroxylase deficiency Over treatment with glucocorticoids and mineralocorticoids is also a common cause of hypertension in patients with CAH.
- 37. Investigations First step ABG Serum Na and K Blood glucose Inflammatory marker 17 (OH) Progesterone
- 38. Investigations cont.. Second step Aldosterone Plasma renin activity 11-deoxycortisol, Karyotyping for infant with ambiguous genitalia Chromosomal sex.
- 40. Diagnosis 1- A baseline serum 17(OH) Progesterone >100 ng/ml confirms the diagnosis of classical CAH due to 21α-hydroxylase deficiency and does not require ACTH stimulation test.
- 41. Diagnosis cont.. 2- A baseline serum 17(OH) Progesterone <100 ng/ml, ACTH-stimulated 17(OH) Progesterone should be performed : Stimulated serum 17(OH) Progesterone >100 ng/ml confirms the diagnosis of classical CAH Value between 10 and 100 ng/ml establishes the diagnosis of NCCAH, Value <10 ng/ml suggests that the individual is either carrier or is not affected.
- 43. Management Acute salt-losing crisis: IV isotonic dextrose–saline (to prevent hypoglycemia) (20ml/kg) over first hour and repeated as necessary, IV hydrocortisone at doses of 100 mg/m 2 in divided doses
- 44. Management cont.. Once the child is hemodynamically stable and starts accepting oral feed, Oral hydrocortisone (10–15 mg/m 2 in divided doses) Fludrocortisone (100 μg twice daily) Oral salt supplementation (4–8 mmol/Kg). High-dose glucocorticoids during periods of stress like infection, trauma, or surgery. With female patient, possible clitoral regression followed by vagino-plasty after birth.