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Congenital Hypothyroidism Presenting with Myxedema Coma
Dr.mirzarahimi
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ID: 36 y/o female from Guadalajara with untreated congenital hypothyroidism
CC: Respiratory distress
History of Present Illness:• 1 week PTA: Congestion and nasal discharge causing
decreased sleep x 3 days
• Outside clinic: IM injection of antibiotic x3 days, given 5 days of Azithromycin along with Albuterol syrup, phenergan, prednisolone and Tylenol
• DOA: Worsening congestion and difficulty swallowing, Episodes of perioral cyanosis lasting 3 min
• ROS: no fevers, +constipation (daily suppositories), +night-time snoring, + dry skin, decreased activity level from baseline
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Development @ Baseline•Social (~12 mo): work for toy, play pat-a-cake, indicate wants, waves bye-bye, rolls ball with examiner•Language (expressive ~6mo; receptive ~10mo): nods/shakes her head, hand gestures•Fine Motor (~6 mo): raking grasp, pass cube, take 2 cubes•Gross Motor (~10 mo): crawls, sits up by herself, walks with both hands being held and supported, turns pages of books, not toilet trained
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Physical ExamVital signs BP: 123/72, HR: 63, RR: 12, , T 97.8, Pain: 0/10 Weight: 16.5 kg Height: 81 cm BMI: 25.1 kg/m2 HC: 51cm GENERAL: very small for stated age , coarse facial features, appearing about 2-3
years old, non-verbal HEENT: large anterior fontanelle open and flat, deep set nose, large dry lips,
large thick partially visible tongue, poor dentition, coarse/sparse hair, (frenulum attached)
NECK: thick neck, no palpable goiter or thyroid nodules, + shotty cervical LADCHEST: coarse breath sounds b/l, no wheeze/retractions, no stridor, SMR (B) 1CARDIAC: S1 +S2, regular rhythm, heart rate 50-60’s no murmurs/gallops/rubsABD: protuberant abdomen, small umbilical hernia, soft, nontender no HSMGU: SMR 1 femaleEXT: short fingers and toes, short arms and legs, broad edematous hands b/lNEURO: deep tendon reflexes hypereflexic with markedly delayed return phaseSKIN: pale, dry boggy skin, with myxedematous changes, multiple nevi with
raised nevi at external ear canal on left
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In the hospital
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Labs
145
3.5
109
22250
14
0.7
Ca 10.6Phos 2.4Mg 1.9
586.5
3.3
0.2
0.1
35
24
CK 87LDH 215PT 16.4sINR 1.31PTT 20.3s
8.27.1
21.2
99.7
268
14.8N77 L19 M4 B0.1
Lactate 4.3Ammonia 32CRP 5.3
VBG: pH 7.3 pCO2 50 pO2 45 HCO3 25 BD 1.1 O2 75%
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Endocrine Labs
• TSH 208• FT4 <0.4• FT3 <1.1• Thyroglobulin 4.2• Thyroglobulin Ab <1
• PTH 66• Prolactin 113.4
• AM Cortisol 17.6• LH <1.0• FSH 2.1• Estradiol 21• DHEAS 23• GH 0.8• IGF-1 <25
• Vit D 25-OH 11
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CXR/KUB
• Cardiomegaly• Increased interstitial markings
• Distended stomach• Immature skeleton
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Skeletal Survey
• Widened sutures• Wormian bones
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SkeletalSurvey
• Flattening of bodies
• Thoraco-lumbar kyphosis
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• Cretinoid epiphyseal dysgenesis
• Shortening of long bones
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Bone Age
• Carpal bone age ~3 yrs
• Distal bones ~1yr 3mo
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MRI Brain
• Mildly prominent pituitary gland
• No sellar mass
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Studies
Echo: decreased ejection fraction, mild aortic insufficiency, heart walls that appear to have myxedematous changes
Thyroid U/S: no evidence of thyroid tissue within neck
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Learning Objectives
• Review Congenital Hypothyroidism• Know about the uncertainties in managing
adults with congenital hypothyroidism who have never been treated before
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Congenital Hypothyroidism• Thyroid hormone deficiency at birth
– Most common treatable causes of mental retardation
• Screening: newborn screening since mid-1970’s
• Incidence– 1: 4,000-3,000 newborns– Hispanic, American Indian/Alaska Native people
(1:2,000-700 newborns)– Black 1:3,200-17,000
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Etiology• Common form of thyroid dysgenesis
– Aplasia– Hypoplasia– Ectopic gland (66%)
• Cause of thyroid dysgenesis is unknown (85% sporadic, 15% hereditary)
– Mutations– Inborn errors of T4 synthesis, secretion, or utilization (2/3 heritable
cases)• Transient Hypothyroidism
– Maternal Autoimmune thyroiditis– Maternal medication for Graves’ disease
• Endemic cretinism from iodine deficiency
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Screening• Started in Mid-1970’s• Measure T4 & TSH > 48 hrs of life
– T4 – false-positive rate 0.30%– TSH – false-positive 0.05%– Preterm infants have higher false-positive– Not affected by diet or transfusion; but total exchange transfusion
• If + confirm thyroid US or thyroid uptake scan• If maternal autoimmune thyroid disease measure TSH-binding
inhibitor Ig• If iodine exposure/deficiency measure urinary iodine
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Clinical Manifestations
Infants protected for 1st few wks of life– Fraction of maternal thyroid
hormone crosses placenta• >40 wk GA• HC Slightly higher % due to brain
myxedema• Large fontanels & wide sutures• Macroglossia• Distended abdomen with
umbilical hernia• Skin mottling• Goiters (5-10%)• Sensorineural deafness (10%)• Other congenital anomalies (10%)
• Slow to feed• Constipation• Lethargic• Sleep more, needs to be
awakened to feed• Hoarse cry• Cool to touch• Hypotonic with slow reflexes• Prolonged jaundice
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If undiagnosed at a later age…
• Slow linear growth• Loss of IQ• Ataxia• Gross/fine motor
incoordination• Hypotonia & spasticity• Speech disorders• Attention deficit• Strabismus• Sensoriuneural deafness (10%)
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Disease Management
• Levothyroxine (~10-15 m/kg/day)– Goal: T4 1.2-2.3 ng/dL TSH <6 mU/L– Monitor T4 & TSH @
• 2 & 4 wks after treatment• q1-2 months in 1st year• q3-4months between 1-3 yrs• 2-4wks after any change in dosage
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Myxedema Coma
• Myxedema coma is a medical emergency, typically caused by a precipitating event in a patient with chronically untreated hypothyroidism
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To treat, or not to treat….For in this unique case
Pros to therapyDevelopmental or
maturational changesIncreased social interactionsPrevent myxedema comaPrevent hospitalizationsCompatible with
life/sustains life
Cons to therapyMensesIncreased caretaking
responsibilitiesIncreased medical
monitoringBehavioral changes
(aggressiveness, mood liability)
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Case report cont.
Prior to Therapy 7 months after therapy
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Question
• A 13 year-old diagnosed with congenital hypothyroidism was brought in by mother after missing appointments for >1 yr. Physical examination reveals length at the 5th percentile, weight at the 10th percentile, dry skin, and non pitting edema in bilateral lower extremities. Mother also concerned with constipation. You order TSH and FT4 and increase the thyroid hormone replacement therapy from 50mcg to 100mcg.
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Question
Of the following, the MOST likely long-term outcome in this child:
A. Adrenal InsufficiencyB. Diabetes mellitusC. Learning disorderD. Normal adult heightE. Precocious puberty
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Answer - C• Children who have severe hypothyroidism at birth tend to have poorer
intellectual outcomes than their siblings, even if therapy is started in the first few days after birth
• With continued and appropriate thyroid hormone therapy, this child should grow normally in height, and adult height should be appropriate for the family. However, this child has been chronically undertreated for many months.
• Congenital hypothyroidism is not associated with adrenal insufficiency, although acquired hypothyroidism because of chronic lymphocytic thyroiditis may be associated with the development of autoimmune adrenal insufficiency (Addison disease).
• Precocious puberty is not an outcome of congenital hypothyroidism unless a child is overtreated with thyroid hormone and develops premature maturation, which is very unusual. Some children who have severe acquired hypothyroidism have manifested signs of sexual precocity that disappear after treatment of the hypothyroidism (Van Wyk-Grumbach syndrome).