Thyroid Gland Diseases in

Children
• The hormones of the thyroid gland exert
important effects on growth and development
including early effects on the development of
the central nervous system (CNS), regulation of
temperature, and influences on metabolism.
• Disorders of the thyroid gland are common
forms of endocrine disease in childhood, and the
primary care provider will definitely encounter
some of these.
Normal Thyroid Physiology and Anatomy

 Thyroid gland begins embryologically as an out pouching from the floor of the pharynx
& migrates caudally to its final position in the lower neck anterior to the trachea.
 Iodide ingested in food is actively concentrated in the thyroid gland, where is
converted to Iodine (by peroxidase ) which is then incorporated into tyrosine residues
in thyroglobulin using peroxidase.
 The tyrosine residues are either iodinated at either one or both ends( producing MIT
or DIT).
 Binding then occurs and MIT can combine with DIT to form TIT (T3), or 2 DITs combine
to form tetraIT (T4).

 All T4 is produced by the thyroid gland, but 85% of T3 (the active hormone) is
produced by peripheral conversion of T4 (enzyme 5 monodeiodinase).
Pathways of thyroid
Hormone metabolism
 A negative feedback loop exists between
TRH ( hypothalamus) , TSH ( anterior
pituitary) and thyroid hormones.

 Thyroid hormones control BMR, affect

growth, mental development, sexual
maturation and increase the sensitivity of
beta-receptors to catecholamine's.
Functional condition of Thyroid influence
may be as
Euthyroidism
Hypothyroidism
hyperthyroidism
Hypothyroidism

• Hypothyroidism - syndrome with particular or

total deficiency T3 and T4 or theirs acts to target
cells
Classification of hypothyroidism
Disturbances
 PRIMARY - defects of biosynthesis of T3, T4 due to
pathology of thyroid gland
 SECONDARY - decreasing T3, T4 due to deficiency of
TSH (pituitary) or TRH (hypothalamus) or Resistance of
receptors for T3, T4
Classification of hypothyroidism
Onset
• Congenital
• Acquired (rare)
Clinic & biologic data
• Latent (subclinical) T3 -N, T4 –N,
TSH > 10 mU/l
• Manifestation of disease due to ↓ T4 (at first) & ↓ T3
• Complicate
ETIOLOGY OF CONGENITAL
HYPOTHYROIDISM
Primary hypothyroidism
• Thyroid dysgenesis (aplasia, hypoplasia, or ectopic gland)
• Inborn error of thyroid hormone synthesis, secretion, or utilization
• Maternal radioactive iodine treatment
• Iodine deficiency (endemic goiter)
• Autoimmune thyroiditis
Hypothalamic or pituitary hypothyroidism
• Pituitary aplasia
• Septo-optic dysplasia
• Thyrotropin unresponsiveness
• Gene mutation
SYMPTOMS OF CONGENITAL
HYPOTHYROIDISM
• There is a tendency towards prolonged gestation with 1/3 of
pregnancies lasting 42 weeks or more
• Prolonged jaundice
• Lethargy
• Constipation
• Feeding problems
• Cold to touch
SIGNS OF CONGENITAL
HYPOTHYROIDISM
• Skin mottling and Dry skin
• Umbilical hernia and Distended abdomen
• Jaundice
• Macroglossia
• Large fontanels
• Wide sutures
• Hoarse cry
• Muscle Hypotonia
• Slow reflexes
Minority of CH
• Puffy myxedematous face
• Depressed nasal bridge with hypertelorism
• Large protruding tongue with an open mouth
• Cold, motted skin
• Short neck
• Palpebral fissures are narrow
• Short fingers
• Fat deposits between neck and shoulders
• Hair is coarse, brittle and scanty
• Hairline reaches far down on the forehead
 ETIOLOGY OF ACQUIRED
• HYPOTHYROIDISM
Chronic lymphocytic (Hashimoto`s) thyroiditis (CLT)
• Subacute thyroiditis (De Quervain`s)
• Goitrogens (iodide, thiouracil, etc.)
• Thyroidectomy or ablation following radioactive iodine
• Infiltrative disease (e.g., cystinosis, histiocytosis X)-systemic disease
• Hypothalamic or pituitary disease
• Congenital thyroid disorders, e.g., ectopia, may not decompensate until
later childhood and thus may appear acquired
• Peripheral resistance to thyroid hormones, including receptor defects
• Jatrogenic (propylthiouracil, methimazole, iodides, lithium,amiodarone)
• Hemangiomas of the liver
SYMPTOMS OF ACQUIRED
HYPOTHYROIDISM
• Slow growth
• Puffiness
• Decreased appetite
• Constipation
• Swollen thyroid gland
• Lethargy
• Drop in school performance
• Cold intolerance
• Galactorrhea
• Menometrorrhagia
Chronic thyroiditis Hashimoto disease
Clinical presentation:
• goiter with euthyroidism
• Thoxic thyroiditis
• Hypothyroidism with or without thyromegaly
• Dysphagia, pain or pressure sensation in the neck, cough and
headache have been reported
Hyperthyroidism
• 1ry with decreased TSH.
• 2ry with increased TSH (pituitary).
• Graves disease is the commonest cause which is due to thyroid
stimulating immunoglobulins TSIs directed against the TSH receptor.

Other causes include: toxic adenoma, subacute thyroiditis( often a

painful goiter) and initially in Hashimoto thyroiditis.
• Females are more commonly affected( F:M 5:1).
Causes of thyrotoxicosis
• Congenital: transient, neonatal Graves’ disease
• Acquired: Graves’ disease
• Functional adenoma
• Thyroid cancer
• TSH-secreting pituitary tumor
• Jatrogenic
Hyperthyroidism, clinical manifestations

 Weight loss, ↑ growth rate, nervousness, irritability , fatigue, ↑

sweating, diarrhea, ↑ appetite, dislike of hot weather, palpitation,
fine tremor.
 Pretibial myxedema and Graves ophthalmopathy( chemosis,
diplopia, and exophthalmos).
 Rx may require carbimazole ( or 2nd line propylthiouracil);
propranolol especially for thyroid storm. Thyroidectomy &
radioactive iodine in older patients.
Neonatal hyperthyroidism
• Rare case caused by transplacental transfer of TSIs.

• Occurs in 1-2% of cases of maternal Graves disease.

• Remember that since the condition is caused by immunoglobulins and

not thyroid hormone transfer, the mother may not be clinically
thyrotoxic around the time of birth.
Neonatal hyperthyroidism, clinical
manifestations
 The baby presents within the 1st week with irritability, diarrhea,
temperature instability, tachycardia and weight loss.
 Features of heart failure may be present.
 The disease is transient and disappears with the disappearance of
antibodies, usually within 2-3weeks.
 Thyroid storm may occur if thyrotoxicosis is undetected and left
untreated: fever, tachycardia, irritability, sweating and diarrhea.
Treat with i.v carbimazole, β blockers & rehydration.
Congenital thyrotoxic goiter of and infant born to a mother with
thyrotoxicosis
Diagnostic of Thyroid gland disease

• Visual & palpating method

• Investigation of thyroid function (basal level of freeT3 ,freeT4)
• Functional tests (TSH)
• USG, radiography, scanning, etc.
• Biopsia
Investigations of thyroid function
• TSH: normal is 0.4-4 μmol.
• ↑ increases in primary hypothyroidism and pituitary
hyperthyroidism.
• ↓ decreases with secondary hypothyroidism and primary
hyperthyroidism.

• Total T3 and T4: This gives measurements of thyroid hormones bound

to binding proteins and therefore unreliable as they can be ↑
estrogens, for example, and ↓ protein loss states like NS
Investigation…
• Serum free T3: ↑early in thyrotoxicosis (cf T4) and so is more
important in detecting thyrotoxicosis.
• Serum free T4: ↓ earlier than T3 in hypothyroidism and is thus more
important in detecting hypothyroidism.
• TRH test: used if the patient is expected to have thyroid disease but
the TFTs are equivocal . It involves measurement of TSH before, 20
min and 60 min post TRH administration. In normal individuals TSH
rise by 20 min (by 1-20µmol/l) & fall to normal levels by 60min
 TRH stimulation test
Minutes after TRH injection 0 min 20 min 60 min

TSH( hypothyroid) 4.7 24 59

TSH( hyperthyroid) 0.8 1.2 0.7

TSH( hypothalamic) 1.3 4.1 6.7