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A Presentation On Congenital Hyperthyroidism
A Presentation On Congenital Hyperthyroidism
A Presentation On Congenital Hyperthyroidism
Thyrotoxicosis
Graves disease
Congenital hypothyroidism
• Hyperthyroidism- synthesis and secretion of
excess thyroid hormone from gland
Autoimmune destruction of thyroid gland Silent (painless) thyroiditis; post partum thyroiditis
Ectopic hyperthyroidism (thyroid hormone made outside Struma ovarii; functional thyroid cancer metastasis
the thyroid gland)
Ingestion of contaminated food Hamburger thyrotoxicosis
Jod-Basedow effect
• Autoimmune disorder causing hyperthyroidism- graves
• Non autoimmune causes of hyperthyroidism
• - hyperfunctioning thyroid nodule
• - gain of function mutation in TSHReceptor
• - iodine induced hyperthyroidism
• TSH secreting adenomas
• Toxic multinodular goitre
• Hyperfunctioning thyroid carcinoma
• Thyrotoxicosis not due to hyperthyroidism ( not due to overproduction
Of thyroid hormone by the gland )
- Thyroiditis
- - ingestion of exogenous thyroid hormone ( Thyrotoxicosis factitia)
Symptoms Signs
Constitutional Weight loss despite increased Weight loss
appetite, heat related
symptoms (heat intolerance,
sweating and polydipsia)
Neuromuscular Tremor; nervousness; anxiety; Tremor of extrmities,
fatigue; weakness, disturbed hyperactivity, hyperreflexia,
sleep, poor concentration pelvic and girdle muscle
weakness
Cardiovascular Palpitations Tachycardia, systolic
hypertention
Pulmonary Dyspnoea (Shortness of Tachypnoea
breath)
Gastrointestinal Hyperdefaction, nausea, Abdominal tenderness
vomiting
Skin Increased perspiration Warm and moist skin
Reproductive Menstrual disturbance
Ocular (Graves disease) Diplopia; sense of irritation in Proptosis; eyelid retraction
the eyes; eyelid swelling, and lag; periorbital oedema;
retroorbital pain, discomfort conjunctival injection and
chemosis; Ophthalmoplegia
Thyroid storm
• Extreme form of hyperthyroidism manifested as severe
biochemical derangement, hyperthermia,
tachycardia,heart failure, restlessness
• Rapid progression to delirium, coma, death
• Precipitating events include trauma, infection, radioactive
iodine(RAI)treatment or surgery.
Temperature F (C) Gastrointestinal- hepatic dysfuntion
99-99.9 (37.2-37.7) 5 Absent 0
100- 100.9 (37.8-38.2) 1 Moderate(diarrhoea, nausea/vomiting, abdominal pain) 10
0
101-101.9 (38.3-38.8) 1
5 Severe( unexplained jaundice) 20
102-102.9 (38.9-39.4) 2
0
103-103.9 (39.44-39.9) 2 Cardiovascular dysfunction
5 Tachycardia
> 104.0 (>40.0) 3
0 90-109 5
110-119 10
Central nervous system effects
absent 0 120-129 15
Mild (agitation) 1
0 130-139 20
Moderate (delirium, psychosis, extreme lethargy) 2
0
> 140 25
Severe(seizure, coma) 3
0
Congestive heart failure
Absent 0
Mild ( pedal edema) 5
Moderate (bibasilar rales) 10
Severe ( pulmonary edema) 15
Atrial fibrillation
Absent 0
Present 10
Precipitating history
Absent 0
Present 10
Management of Thyroid Storm in adolescents
Goal Treatment
Inhibition of thyroid hormone production and Propylthiouracil 400mg every 8 hours
secretion PO/IV/NGT
Saturated solution of KI 3 drops every 8 hours
Sympathetic blockade Propranolol 20-40 mg every 4-6 hours or 1mg
iv slow (Repeat doses until heart rate slows);
not indicated in patients with asthma or heart
failure that is not rate related
Glucocorticoid therapy Prednisone 20 mg bid
Supportive therapy IV fluids (depending on indication, glucose,
electrolytes, multivitamins)
Temperature control (cooling blankets,
acetaminophen, avoid salicylates)
O2 if required
Digitalis for heart failure and to slow
ventricular response, pentobarbital for
sedation
Treatment of precipitating event (eg. infection)
Lab findings
• Serum TSH suppressed, free T4 and free T3 are elevated
• Measuring Thyrotropin receptor antibodies ( TSHR-Abs)
2 types of assay – 1) thyroid stimulating immunoglobulin assay
2) Thyrotropin binding inhibitory immunoglobulin
assay ( 97% sensitive and 99% specific)
If history,physical examination, and lab evaluation cannot establish
diagnosis , RADIOACTIVE iodine uptake is measured
- I123 is the radionuclide of choice for thyroid uptake and scintigraphy.
- RAI uptake assessed at 4 and 24 hr after isotope administration is
elevated in graves
- Low in thyroiditis and exogenous thyroid hormone ingestion
Treatment
• Medical management
• Methimazole first line ATD for children with graves ( blocks the
organification of iodide necessary to synthesize thyroid hormone
Methimazole has long half life ( 8hr) requiring only once dosing
- Propylthiouracil not recommended in children due to its potential to
cause liver failure
- Adverse effects of ATD ( occur in 1st 3 months of therapy)
- Minor S/E – urticaria rashes ( treated by anti histaminics or by a short
period off ATD )
• Severe adverse S/E- AGRANULOCYTOSIS ( occur in 0.5%) can lead
to fatal infections
• If occurs, pt on methimazole should stop this medication and get
WBC counts checked during any episode of fever, pharyngitis, oral
ulcer.
Other severe S/E include
Hepatitis, lupus like poly arthritis
syndrome,glomerulonephritis,ANCA positive vasculitis
M/C liver disease associated with methimazole is cholestasic
jaundice ( reversible if drug discontinued )
• initial dose of methimazole 0.5-1 mg/ kg/24hr( max40mg/day)
OD or BD
• Response is seen in 4 weeks and TSH should be monitored ( TSH
elevated indicates over treatment) adequate control is seen in 3-
4 months , dose is decreased to minimal to maintain euthyroid
state
• 25% show remission after 2 yrs of therapy
• 50% show remission after 4 yrs of therapy
• In case of relapse resume ATD or treat with radioiodine therapy
• Surgical management
• Radioiodine ablation or thyroidectomy
• In severe Thyrotoxicosis, euthyroidism is restored with methimazole
Prior to radioiodine ablation to deplete the preformed hormone and
reduce the risk of the thyrotoxic flare from radiation thyroiditis
Radioiodine therapy is avoided in < 5 yrs of age
Thyroidectomy is the last surgical management but can only be done if
the patient is maintained in euthyroid state with methimazole over 2-
3months .
-
Treatments Graves Disease
for
Treatment Advantage Disadvantage Comment
Antithyroid Non invasive Remission rate -30-50% (with long term First line treatment in
drugs Less initial cost treatment) children and adolescents
No risk of permanent Adverse drug reaction and in pregnancy
Hypothyroidism Drug compliance required Initial treatment in severe
Possible remission cases or pre operative
preparation
Radioactive Cure for Permanent Hypothyroidism No evidence for infertility,
Iodine Hypothyroidism Might worsen Ophthalmopathy birth defect or secondary
Most cost effective Pregnancy must be deferred for 6-12 cancers with currently
months recommended cases
Mother cannot breastfeed; small
potential risk of exacerbation of
hyperthyroidism
Surgery Rapid, effective Most invasive therapy Potential use in Pregnancy
especially in patients Potential complications (Recurrent if major side effects from
with large goitre laryngeal nerve damage, antithyroid drugs
Hypoparathyroidism) Useful when coexisting
Permanent Hypothyroidism suspicious nodule is
Most costly therapy present or thyromegaly is
Pain and surgical scar massive
Option for patients who do
not desire radioiodine
Congenital hyperthryroidism
• Neonatal graves disease due to transplacental passage of TRSAbs
from mother with H/O graves
• In utero, fetal tachycardia and goitre may suggest a diagnosis and a
close USG monitoring is recommended in the 3rd trimester
• Increase levels of TRSAbs or H/O previous child with thyroid
dysfunction increases the risk
• It usually resolves within 6-12 weeks due to clearance of TRSAbs from
neonatal circulation
Clinical features
• Infants are premature and have intrauterine growth restriction
• If infant has goitre complains of tracheal compression may be
present.
• Low birth weight, stare,periorbital edema,retraction of
eyelids,hyperthermia,irritability,diarrhea,feeding difficulties,poor
weight gain,tachycardia,heart
failure,hypertension,hepatomegaly,splenomegaly,cholestasis,jaundice
,thrombocytopenia and hyperviscosity
• LAB INVESTIGATIONS
Suppressed serum TSH,increased levels of T4 and T3
Increased levels of TRSAbs at birth
Treatment
• Methimazole (0.5-1 mg/kg/24hr) given 12 hr
• Oral or iv propanolol beta adrenergic blocker to decrease sympathetic
activity
• In refractory cases, potassium iodide can be given 1 hr after the first
dose of ATD to prevent iodide from being used for further thyroid
hormone synthesis
• Most cases of neonatal graves resolve by 3 months of life but
occasionally may persists into childhood.