• THYROID GLAND DISORDER : L2
Etiological classification of congenital hypothyroidism:Primary hypothyroidism :
• Defect of fetal thyroid development (dysgenesis )
• Defect in thyroid hormones synthesis
• Defect in thyroid hormones transport
• Resistance to thyroid hormones
• Maternal antibodies
• Iodine deficiency
• Maternal medication (iodides .amiodarone . methimazole ,radioiodide )
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2BA=3.5 yrs
CA= 5 yrsDelayed diagnosis
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• Central hypo pituitary hypothyroidism
TSH deficiency• Isolated TRH deficiency
• Multiple congenital pituitary hormones deficiencies
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4Clinical features of congenital hypothyroidism
Most cases of congenital hypothyroidism are asymptomatic because partial trans placental passage of maternal T4.22 نيسان، 20
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6S of cong.hypothyroidsm &s
Normal weight & length at birthSlight enlargement of head because myxedema
Wide anterior &posterior fontanel
Prolonged physiological jaundice (early sign)
Feeding difficulties& choking &delayed teeth eruption
Cry little &sleep much poor appetite
Constipation not respond to treatment with umbilical hernia
Genital edema ,slow pulse ,cardiac murmur with macrocytic anemia
Broad hands &short fingers
Dry scaly skin &little perspiration
Developmental delay ,hoarse voice &they don’t learn to talk
Physical &intellectual impairment increase with age with delayed sexual maturation
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Laboratory finding:
Heal prick between 2-5 days of age ( filter paper )
Serum level of T4 & free T4 usually low …..T3 may be normal & usually not helpful in diagnosis. ECG show slow voltage ,echo may show pericardial effusion .
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8• Radiological finding :
retarded osseous maturation at birth in 60 % of cases .Distal femoral &proximal tibial epiphyses normally present at birth are often absent
Deformity( beaking )of the 12th thoracic or 1st or 2nd lumber vertebra is common , skull show wide sutures ,enlarge and round sella turcica
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9• Treatment :
Levothyroxine (L-T4)given orally at morningRecommended initial starting dose is 10-20 µg/kg/day [ serum T4 &freeT4 ,TSH ]should be checked every 1-2 mo.in 1st 6 mo. Of life .then every 2-4 mo. From 6mo. -3 yrs. Of age
T4 . Take a week to be normal & TSH need 3-6 mo.to come back to normal
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10• Prognosis :
Early diagnosis and adequate treatment from 1st wk.of life result in normal linear growth &development . variable degree of brain damage may contribute to [delay diagnosis, inadequate treatment &poor compliance in first 2-3 years of life )
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11Follow up
TSH. Monthly in 1st 6 months then every 2-3 month between 6m-2 yrs . Of ageFollow up include :
1- growth
2- development
3-radiological assessment
4-lab.assessment
5-psychometric assessment
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Ten yr.
MRNo
Treatment
Given
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• HYPERTHYROIDISM :
Excessive secretion of thyroid hormones it is caused by Graves diseaseClinical features of hyperthyroidism :
Symptoms :
• Hyperactivity .irritability ,altered mood, insomnia poor concentration
• Heat intolerance
• Fatigue ,weakness ,palpitation
• Dyspnea ,weight loss ,thirst &polyuria with loose stool
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15Murtada
With DMOn carbimazole
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• Signs :
• Sinus tachycardia• Fine tremor , hyperreflexia moist &worm skin
• Palmer erythema ,
• Hair loss or thinning
• Chorea
• Osteoporosis ,hypokalemic periodic paralysis
• Psychosis
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17LAB. Finding :
High T3--T4 &free T4and low TSH and T3 usually elevated more than T4
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18• Treatment :
Medical treatment is recommended rather than radioiodine or surgery
Propylthiouracil(PTU) &methimazole[Tapazole ]( potent 10 time than PTU)
Initial dose of Methimazole :0.25mg-1mg /kg /24hr once or twice daily
Clinical response appear after 3-6 wks and adequate control evident in3-4 months
Beta blocker like propranolol in dose 0.5-2 mg/kg/day orally useful in toxic patients
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19Disorder of parathyroid gland:
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20Parathyroid hormones
: PTH also called parathemone secreted by parathyroid gland which is important in bone remodeling .PTH secreted in response to low blood serum calcium level .calcitonin : also called thyrocalcitonin it is hormone produced primarily by Para follicular cell in thyroid gland and act to reduce level of calcium and opposing the effect of PTH hormone .22 نيسان، 20
21• HYPORARATHYROIDISM :Etiology:
A: congenital
• Transient neonatal
• Familial isolated hypopara .(AR,AD.Xlinked )
• Di George syndrome & sanjad –sakati syndrome (short stature, retardation .dysmorphism )
• Barakat syndrome (sensorineural hearing loss with renal dysplasia )
B :acquired (autoimmune ,infiltrative ,maternal hyperparathyroidism ,hypomagnesemia)
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22Clinical features:
Vary from asymptomatic to sever form of hypocalcemiaMuscular pain &cramps are early signs
Numbness stiffness &tingling of hands and feet
Chevostek or trousseau sign or carpopedal spasm may be only signs
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23Convulsion with or without loss of consciousness (mistaken as epilepsy )
Headache & vomiting because raised ICPDelayed teeth eruption &dry scaly skin
Mucocutaneous candidiasis
Cataract .addison disease pernicius anemia ,alopecia
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Ali ridha 23 months .5 kg weight .stunted growth
Sanjad sakati syndrome SSSHypoparathyroidism
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12 yrs old boy presented with repeated convulsion
s.Ca : 5.6mg /dls.Phosphate :10.8mg /dl
PTH :<1.2 (2.5-25ng/l )
+ve chvostic sign
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Lab. Finding :
serum calcium is low5-7mg/dl
phosphorus level is elevated
(7-12mg/dl)
Ionized Ca which reflect 45% of the total
Low
Alkaline phosphatase
normal or
low
1,25(OH)2D3
Usually low& high in sever hypocalcemia
Magnesium
Normal
PTH
Low
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• Treatment :
Emergency treatment of neonatal tetany consist of injection of 5-10 ml or 1-3 mg/kg of 10%solution calcium gluconate (elemental 9.3 mg/ml )D3 (active form calcitriole ): also should be given (initial dose 0.25µg/24 hr .with maintenance dose 0.01-0.1 µg/kg/24hr
Supplemental calcium in form of calcium gluconate provide 800 mg elemental calcium daily or ca++ carbonate
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28PSUODOHYPOPARATHYROIDSM( PHP)
:{Albright hereditary osteodystrophy )
Parathyroid hormone here are normal and serum level of PTH are elevated even when patient is hypocalcemic(peripheral resistance to PTH rather than deficiency ) .we have type 1A (common ) &type 1B less common & type 2.(tissue specific resistant to PTH)
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29Hypocalcemia ,high PTH, hyperphosphotemia =psudohypoparathyroidism (PSHPT)
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Type 1A : account for majority of cases
• Tetany is often presenting sign• Short stocky build &round face
• Brachydactyly with dimpling dorsum of the hand
• 2nd metacarpal bone involve result in index finger longer than middle
• Short and wide phalanges .bowing ,exostoses &thickening of calvaria
• Moderate degree of cognitive impairment
• Calcification of basal ganglia with lenticular cataract
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32Hypoparathyroidism low ca.high phosphorous low PTH= SSS sanjad sakati syndrome علي رضا رياض
Pseudopseudohypoparathyroidism PPHP(Albright hereditary osteodystrophy AHO )
Inherited disorder ,it is similar to pseudohypoparathyroidism (PHP) in presentationserum level of calcium and phosphorus usually normal with PTH hormone slightly elevated & no resistant to PTH
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33Clinical features :
short stature . Round face .brachydactyly.ectopic ossification of soft tissue. Shortining of 4th metacarbal boneDX: exclusion of other causes of HPT, and genetic study GNAS mutation
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34Summary
Condition
Appearance
PTH
Calcium
Phosphates
Hypoparathyroidism
Normal
Low
Low
High
Pseudohypoparathyroidism type 1A
Skeletal defect
High
Low
High
Pseudohypoparathyroidism type 1B
Normal
High
Low
High
Pseudohypoparathyroidism type 2
Normal
High
Low
High
Pseudopseudohypoparathyroidism
Skeletal defect
Normal
Normal
Normal
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Regarding thyroid ¶thyroid disorder
• Thyroxin hormone given at meal time twice daily in hypothyroidism
• Phosphorus is low in pseudopseudohypopara
• PTU is more potent than methimazole
• Normal T3 level in cong . Hypothyroidism
• D3 should be given in hypoparathyroidism
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