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Congenital hypothyroidism
Congenital hypothyroidism is a condition present at birth where the thyroid gland does not produce enough hormones. It can cause arrested physical and mental development. The most common cause is failure of the thyroid to grow before birth. Symptoms in newborns include jaundice, hypotonia, and large tongue. If not treated with levothyroxine replacement, it can lead to intellectual disability and growth impairment. Screening programs allow for early diagnosis and treatment to prevent complications.
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Introduction to congenital hypothyroidism, causes, and prevalence (1 in 4000 newborn).
Risk factors including chromosomal disorders and autoimmune diseases related to congenital hypothyroidism.
Genetic types and inheritance patterns; key genes involved in congenital hypothyroidism.
Primary causes including thyroid development failure, iodine deficiency, and maternal factors.
Neonatal symptoms like jaundice and growth issues; features after 1 month include umbilical hernia.
X-ray findings indicative of skeletal abnormalities associated with congenital hypothyroidism.
Conditions to differentiate from congenital hypothyroidism, including goiter and Down syndrome.
Potential complications like mental retardation and growth impairment.
Levothyroxine as the primary treatment with dosage information and considerations for absorption.
Effective treatment leads to normal development; prevention of cognitive disability is achievable.
Essential thyroid testing schedule for newborns and importance of early diagnosis.
Initiatives to address iodine deficiency with a goal of reducing goiter prevalence.
Presentation wrap-up and gratitude expressed for the audience.
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Congenital hypothyroidism
- 2. Congenital Hypothyroidism Dr. SunilNatha Mhaske
- 3. • Hypothyroidism isa condition in which the thyroid gland, does not produce enough thyroid hormones, which control overall metabolism and many bodily functions. • Hashimoto’s disease-body’s immune system mistakenly destructs its own thyroid gland. • Congenital hypothyroidism is when the disorder is present in a baby at birth. • A condition of thyroid hormone deficiency present at birth marked by arrested physical and mental development, dystrophy of the bones and soft parts and lowered basal metabolism. • Congenital form of thyroid deficiency • Myxedema is the acquired form. • 1 in 4000 newborn. Introduction-
- 4. Risk factors forcongenital hypothyroidism – A chromosomal disorder such as Down syndrome, Williams syndrome, or Turner syndrome. An autoimmune disorder such as type 1 diabetes or celiac disease. Injury to the thyroid gland. Congenital hypothyroidism with associated syndromes- - Pendred syndrome - Bamforth-Lazarus syndrome - brain-lung-thyroid syndrome.
- 5. OMIM Name Gene 275200Congenital hypothyroidism, nongoitrous 1 CHNG1 TSHR 218700 CHNG2 PAX8 609893 CHNG3 ? at 15q25.3-q26.1 275100 CHNG4 TSHB 225250 CHNG5 NKX2-5 When inherited, the condition usually has an autosomal recessive inheritance pattern, which means both copies of the gene in each cell have mutations. Typically, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition. Genetic types
- 6. The most commoncause of congenital hypothyroidism is failure of the thyroid gland to grow before birth. • Iodine deficiency. • Defect of development of the thyroid gland. • Genetic defects • Presence of maternal antibodies. • Maternal intake of drugs- Radioiodine, iodides, propylthiouracil, methimazole. • Idiopathic Etiology-
- 7. 1) Neonatal period- •Pallor and hypothermia • Enlarged tongue • Hypotonia • Prolonged jaundice • Rough, dry skin • Open posterior fontanelle • Relative constipation • Mild post-maturity • Heavy baby 2) After 1 month- • Umbilical hernia • Pallor & hypothermia • Large tongue • Rough, dry skin • Constipation • Facial puffiness • Growth retardation • Poor development • Myxedema • Umbilical hernia Clinical features:
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- 10. Diagnosis- • Estimation ofT3, T4 and TSH (on day 5 to 7 of postnatal life)- TSH > 20 miu/I. Radiological changes- • Widely open anterior and posterior frontally. • Depressed nasal bridge • Retardation of osseous development • Absent distal femoral epiphysis at birth • Large skull with wide sutures • Cortical thickening
- 11. • X rayskull sellar view showing enlarged sella hypoplastic maxillary and frontal sinuses
- 12. X ray wristshowing bone age of 10 years (chronological age 24 years): 1. Epiphysis of pisiform just appearing 2. Irregular ossification of growth plate 3. Sclerotic band at radial metaphysis 4. Soft tissue thickening 5. Pencil thin cortex
- 13. X ray spineshowing- 1. Bullet shaped L1 vertebra 2. Osteoporosis 3. Increased inter vertebral spaces
- 14. Xray pelvis showing- 1.Unfused femoral head epiphysis 2. Unfused apophysis 3. Pencil thin cortex 4. Persistent tri radiate cartilage
- 15. X ray kneeshowing heterogeneous epiphysis with irregular ossification of growth plate
- 16. Differential diagnosis- • Goiter •Down syndrome • Skeletal dysplasia • Biliary atresia • Hypopituitariosm • Iodine syndrome • Pituitary dwarfism • Panhypopituitarism • Metabolic storagae disease
- 17. Complications- • Mental retardation •Impairment of linear growth • Impairment of bone maturation • Gait abnormalities • Spasticity • Dysarthria • Mutism • Autistic behavior
- 18. Treatment- • Synthetic formof the thyroid hormone T4- levothyroxine • Dose : child-4 microgram/kg/day, Adult-2 microgram/kg/day – orally • Side effects : craniosynostosis, pseudotumor cerebri • Don't mix the levothyroxine with soy formula or calcium or iron preparations - reduces the absorption.
- 19. Prognosis- • Most childrenborn with congenital hypothyroidism and correctly treated with thyroxine grow and develop normally in all respects. • Even most of those with athyreosis and undetectable T4 levels at birth develop with normal intelligence, although as a population academic performance tends to be below that of siblings and mild learning problems occur in some. • Congenital hypothyroidism is the most common preventable cause of intellectual disability.
- 20. Evaluation- Serum T4 orfree T4 and TSH blood tests should be performed- • At 2 and 4 weeks after the initiation of T4 treatment. • Every 1 to 2 months during the first 6 months of life. • Every 3 to 4 months between 6 months and 3 years of age. • Every 6 to 12 months thereafter until growth is complete. Newborn thyroid screening- • Blood sample is taken by a heel prick of the baby. • For early diagnosis and proper treatment of thyroid disorders in children • It is one of the treatable and preventable cause of mental retardation
- 21. National Iodine DeficiencyDisorder Control Programme – • Implemented since 1962. • Objective of reducing and preventing iodine disorder control programme. • To assess the magnitude of the iodine deficiency disorders. • Supply of iodized salt in place of common salt. • Laboratory monitoring of iodized salt and urinary iodine excretion. • Health education & publicity. • Goal: to decrease prevalence of goiter to <5% in the school children age 6-12 years.
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