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Hypothyroidism

Definitions

• deficiency in thyroid hormone secretion


• reduction of thyroid hormone action at the
cellular level
• two major forms
1) congenital hypothyroidism (CH)
2) acquired hypothyroidism (AH)
• Two major subcategories
1) primary hypothyroidism
2) hypothalamic and pituitary hypothyroidism
Epidemiology
(Congenital Hypothyroidism)
• sporadic
• 10% to 15% - inherited defects in :
– thyroid gland stimulation,
– thyroid hormone synthesis (hormonogenesis),
– peripheral action.
• 1 in 3,500 to 4,000 newborns (normal iodine
nutrition in the population )
• Girls > boys (sporadic)
• Girl = boys (inherited) – autosomal recessive
Epidemiology
(Acquired hypothyroidism)
• females who have autoimmune diseases.
• incidence of thyroiditis during adolescence approximates
1% to 2%.
• AH may occur as:
1) as autoimmune thyroid disease only;
2) in association with other autoimmune diseases, such as type 1
(insulin- dependent) diabetes mellitus, alopecia, vitiligo,
Addison disease, rheumatoid arthritis, and lupus erythematous
in the child or family members; and
3) in association with other diseases, such as Down syndrome and
Turner syndrome.
• as early as age 6 months;
• symptoms and signs = untreated CH
Etiology and Pathogenesis

• not known
• Thyroid dysgenesis
– athyreosis,
– ectopia (ectopic thyroid dysgenesis),
– hypoplasia.
• Inherited CH
– mutations in the genes that code for specific enzymes
and cofactors that are required for thyroid
hormonogenesis.
• familial thyroid dyshormonogenesis.
Clinical Aspects
Common Symptoms and Signs of
Hypothyroidism
Congenital hypothyroidism
Findings During the First Findings Beyond Age 1 Month Findings After Age 3 Months
2 Postnatal Weeks

Prolonged neonatal Darkened and mottled skin Umbilical hernia


jaundice
Edema of the eyelids, Stressful, frequent & laboured Infrequent & hard stool
hands, and feet breathing
Gestation >42 wk Failure to gain weight and poor Dry skin with caretonemia
sucking ability
Birthweight >4 kg Decrease stool frequency Macroglossia
Poor weight gain Decrease activity & lethargy Generalised swelling &
myxedema
Hypothermia Hoarse cry
Protuberant abdomen
Large AF & PF
Laboratory Tests

• A low FT4 value for age is diagnostic of


hypothyroidism.
• elevated TSH for age is diagnostic of primary
hypothyroidism
• serum TSH is normal or low & low FT4,
– hypothalamic or pituitary (central)hypothyroidism.
• mildly elevated serum TSH level (􏰀 20 mU/L)
(immunoassay) may have hypothalamic
hypothyroidism.
• TSH molecule is glycosylated incompletely d/t
– deficiency in TRH secretion
– reduced biologic activity.
(immunoassay measures the alpha and beta chains
of the peptide instead of biologic activity, the TSH
value may be elevated despite reduced biologic
activity.)
Screening
• screening TSH value is elevated, confirmatory
serum tests are required,
• treatment should be initiated before the
results of the serum tests are available
• important diagnostic tests include
• serum FT4 level;
• serum thyroglobulin concentration if the
thyroid gland is nonpalpable; and,
• thyroid ultrasonography or
– technetium pertechnetate or
– iodine-123 scan (should not be used in newborns)
• primary AH – autoimmune thyroiditis
• measure thyroid antibodies.
• thyroid peroxidase antibody (TPOAb)
• thyroglobulin antibody (TGAb)
Diagnosis
Management

• Levothyroxine (L-thyroxine) is the treatment of


choice during infancy and childhood
• After age 3 years, annual measurements of
serum TSH for patients who have primary
hypothyroidism and FT4 for those who have
central hypothyroidism should be an adequate
as- sessment of thyroxine replacement
therapy in compliant patients.

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