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• 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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Thyroid Gland

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Thyroid Gland

BA=3.5 yrs

CA= 5 yrs
Delayed diagnosis
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• Central hypo pituitary hypothyroidism

TSH deficiency
• Isolated TRH deficiency
• Multiple congenital pituitary hormones deficiencies

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Clinical features of congenital hypothyroidism

Most cases of congenital hypothyroidism are asymptomatic because partial trans placental passage of maternal T4.


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Thyroid Gland

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S of cong.hypothyroidsm &s

Normal weight & length at birth
Slight 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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• 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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• Treatment :

Levothyroxine (L-T4)given orally at morning
Recommended 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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• 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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Follow up

TSH. Monthly in 1st 6 months then every 2-3 month between 6m-2 yrs . Of age
Follow up include :
1- growth
2- development
3-radiological assessment
4-lab.assessment
5-psychometric assessment
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Ten yr.

MR
No
Treatment
Given
Thyroid Gland



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• HYPERTHYROIDISM :

Excessive secretion of thyroid hormones it is caused by Graves disease
Clinical 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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Thyroid Gland

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Murtada

With DM
On carbimazole
Thyroid Gland



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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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LAB. Finding :

High T3--T4 &free T4
and low TSH and T3 usually elevated more than T4

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• 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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Disorder of parathyroid gland:

Thyroid Gland

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Parathyroid 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 .

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• 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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Clinical features:

Vary from asymptomatic to sever form of hypocalcemia
Muscular 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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Convulsion with or without loss of consciousness (mistaken as epilepsy )

Headache & vomiting because raised ICP
Delayed teeth eruption &dry scaly skin
Mucocutaneous candidiasis
Cataract .addison disease pernicius anemia ,alopecia
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Thyroid Gland

Ali ridha 23 months .5 kg weight .stunted growth

Sanjad sakati syndrome SSS
Hypoparathyroidism
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Thyroid Gland

12 yrs old boy presented with repeated convulsion

s.Ca : 5.6mg /dl
s.Phosphate :10.8mg /dl
PTH :<1.2 (2.5-25ng/l )
+ve chvostic sign
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Lab. Finding :

serum calcium is low
5-7mg/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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PSUODOHYPOPARATHYROIDSM( 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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Hypocalcemia ,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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Thyroid Gland

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Hypoparathyroidism 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 presentation
serum level of calcium and phosphorus usually normal with PTH hormone slightly elevated & no resistant to PTH

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Clinical features :

short stature . Round face .brachydactyly.ectopic ossification of soft tissue. Shortining of 4th metacarbal bone
DX: exclusion of other causes of HPT, and genetic study GNAS mutation

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Summary
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 &parathyroid 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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رفعت المحاضرة من قبل: Mubark Wilkins
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