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CONGENITAL HYPOTHYROIDISM General Hospital of Tianjing Medicine University
 
 
Introduction   Congenital  hypothyroidism results from deficient production of thyroid hormone or a defect of thyroid hormonal receptor activity.  The disorder may be manifested from birth. The major clinical characteristics of congenital hypothyroidism are retardation in growth and mental development.
Introduction  ,[object Object],sporadic endemic
Etiology
Thyroid dysgenesis ,[object Object],[object Object],[object Object]
Defective synthesis of thyroxin ,[object Object]
Thyrotropin deficiency ,[object Object],[object Object],[object Object]
Thyroid gland or peripheral target organ unresponsiveness (receptor disorder) ,[object Object],[object Object]
Biosynthesis of thyroid hormones ,[object Object],[object Object],[object Object],tyrosine iodine
Biosynthesis of thyroid hormones ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Biosynthesis of thyroid hormones ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
 
Regulation of thyroid function The thyroid is regulated by thyroid-stimulating hormone (TSH) which is secreted by the anterior pituitary. TSH synthesis and release are stimulated by TSH –releasing hormone (TRH), which is synthesized in the hypothalamus and secreted into the hypophyseal portal which enters the pituitary. In a state of decreased production of thyroid hormone, TSH and TRH are increased. Exogenous thyroid hormone or increased thyroid hormone synthesis causing elevated blood levels inhibits TSH and TRH production. This is called negative feedback. (see Fig)
 
Action of thyroid hormones ,[object Object],[object Object],[object Object],[object Object],[object Object]
Metabolism  promotes heat production  increases glucose absorption  Increases blood cholesterol  accelerates both synthesis and  degradation of protein.
Incidence ,[object Object],[object Object]
Clinical  manifestations ,[object Object],[object Object]
[object Object],[object Object],[object Object],Clinical  manifestations
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Clinical  manifestations
 
Umbilical hernia
 
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Clinical  manifestations
[object Object],Clinical  manifestations short stature  Delays in formation and eruption of teeth  may occur
short stature
[object Object],Clinical  manifestations Thyroid hormone deficiency presented from birth leads to marked delay in central nervous system development.  Hypothyroid infants appear lethargic and are late in learning to sit, stand and talk  the mental retardation becomes irreversible if treatment is delayed
[object Object],Clinical  manifestations The skin may be dry, thick, and scaly  eyes appear far apart; bridge of the nose is depressed  palpebral fissures are narrow and eyelids swollen.  The mouth is kept open, and the thick and broad tongue protrudes from it
Coarse facial features
Laboratory findings   ,[object Object],[object Object],[object Object],[object Object]
Filter blood spots  (blood of heel )
Laboratory findings ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
radionuclide scans  Normal thyroid
Thyriod  under tongue and displasia
Diagnosis  ,[object Object],[object Object],[object Object],[object Object]
Differential diagnosis ,[object Object],[object Object],[object Object],[object Object]
mental  is normal.  Bone age is normal.  Skeletal X –ray No characteristic facies  Serum levels of T4 and TSH are normal.   Rickets
Down `s syndrome Chromosome abnormality Mental  retardation   No myxedema   Characteristic facies.
Pituitary dwarfism (Growth hormone deficiency ) Short stature  Bone age is delayed  Intelligence is usually normal  No characteristic facies or physiological hypofunction.
Congenital giant colon   Distention and constipation no other manifestation of congenital hypothyroidism
Treatment  ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Treatment   ,[object Object],Preparation (drug): Sodium-L thyroxine   a dried and powdered preparation of porcine or bovine thyroid gland.  Synthetic levothyroxine  L-T 4
treatment:   ,[object Object],[object Object],[object Object],[object Object],[object Object]
Prognosis  ,[object Object],Delay in diagnosis, inadequate treatment, result in variable degrees of brain damage.  Without treatment, affected infants may become mentally deficient dwarfs.
An infant of 6 mo. A before treatment  B four mo after treatment
Key point   ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

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Congen~1

  • 1. CONGENITAL HYPOTHYROIDISM General Hospital of Tianjing Medicine University
  • 2.  
  • 3.  
  • 4. Introduction Congenital hypothyroidism results from deficient production of thyroid hormone or a defect of thyroid hormonal receptor activity. The disorder may be manifested from birth. The major clinical characteristics of congenital hypothyroidism are retardation in growth and mental development.
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  • 15. Regulation of thyroid function The thyroid is regulated by thyroid-stimulating hormone (TSH) which is secreted by the anterior pituitary. TSH synthesis and release are stimulated by TSH –releasing hormone (TRH), which is synthesized in the hypothalamus and secreted into the hypophyseal portal which enters the pituitary. In a state of decreased production of thyroid hormone, TSH and TRH are increased. Exogenous thyroid hormone or increased thyroid hormone synthesis causing elevated blood levels inhibits TSH and TRH production. This is called negative feedback. (see Fig)
  • 16.  
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  • 18. Metabolism promotes heat production increases glucose absorption Increases blood cholesterol accelerates both synthesis and degradation of protein.
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  • 33. Filter blood spots (blood of heel )
  • 34.
  • 35. radionuclide scans Normal thyroid
  • 36. Thyriod under tongue and displasia
  • 37.
  • 38.
  • 39. mental is normal. Bone age is normal. Skeletal X –ray No characteristic facies Serum levels of T4 and TSH are normal. Rickets
  • 40. Down `s syndrome Chromosome abnormality Mental retardation No myxedema Characteristic facies.
  • 41. Pituitary dwarfism (Growth hormone deficiency ) Short stature Bone age is delayed Intelligence is usually normal No characteristic facies or physiological hypofunction.
  • 42. Congenital giant colon Distention and constipation no other manifestation of congenital hypothyroidism
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  • 47. An infant of 6 mo. A before treatment B four mo after treatment
  • 48.