Congenital iodine deficiency syndrome| Cretinism

Table of contents:

1.	Introduction
2.	Causes
3.	Signs and symptoms
4.	Diagnosis
5.	Treatment

The cretinism term is (obsolete ) replaced by the word ‘congenital iodine deficiency syndrome.’ The term cretin refers to a person suffering from cretinism that is not in vogue.

The ‘congenital iodine deficiency syndrome ‘ has features of

1. Physical growth retardation, and
2. Mental retardation.

Causes

The ‘congenital iodine deficiency syndrome is caused by extreme hypothyroidism during

Fetal life.

Infancy, and

Childhood’

This is due to deficiency of iodine in mother-Endemic cretinism in most cases. Goiter may be present.

Other etiological factors are rare; they occur.

Agenesis /hypogenesis of thyroid gland.

The ectopic thyroid gland, Congenital deficiency of some enzymes in thyroid hormone synthesis, and autoimmune thyroiditis may cause congenital iodine deficiency syndrome.

Sign and symptoms

Signs and symptoms are due to decreased thyroid hormones and are broadly grouped into physical and mental features.

Congenital iodine-deficiency syndrome is present at birth and characterized by retarded physical activity. Early diagnosis and treatment are essential to prevent intellectual damage. Neonatal screening is critical, and if there is evidence of thyroid hormone deficiency, treatment is started immediately as progressive mental -intellectual deterioration occurs with each passing week if not treated properly. Treatment in infancy will restore some physical changes but not the neural defects.

Treatment

Initiation of treatment with thyroxine 15 microgram /kg/day is recommended. Thyroxine tablet is crushed in a spoon and mixed with milk and given -tablet is tasteless and well accepted by infants.

Average thyroid hormone level is essential for brain development, neuron maturation, mental power, and the myelination process in the central nervous system. A progressive mental-intellectual deterioration occurs with each passing week if not treated properly.

Mental deterioration is widespread, and thoughts and reflexes become sluggish with reduced muscle tone. A person cannot speak in severe cases—incoordination of movements of varying degrees. The person cannot stand and walk and depends on others for primary care.

Cognitive defects are present.

Physical defects: Bone growth is more affected than soft-tissue growth. There is a disproportionate rate of change in soft tissue and skeletal tissue, causing excessive soft tissue enlargement. So, the child with congenital iodine deficiency syndrome is obese and stocky. The tongue becomes large and protrudes from the mouth. It may obstruct respiration and deglutition.It causes deep respiration and even chocks respiration.

Short stature, thick skin, hair loss, enlarged tongue, protruding abdomen. Delay in bone maturation.

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