QS Study

Cretinism

Extreme hypothyroidism during fetal life, infancy or childhood causes cretinism and the children are called cretins. It is an inherited disease due to deficiency of normal thyroid secretion, characterized by physical distortion, dwarfism, and mental retardation, and often by goiter.

Actually, it as the hypofunctional state of the thyroid gland during fetal life, infancy, and childhood. It is characterized especially by ‘failure of growth’ and ‘mental retardation’. It can be due to a deficiency of iodine in the mother’s diet during pregnancy.

Cause

(1) Congenital criticism:

  1.  Maternal iodine deficiency,
  2.  Fetal thyroid dysgenesis,
  3.  Inborn errors of TH secretion,
  4.  Maternal antithyroid antibodies that cross the placenta,
  5.  Fetal hypo pituitary hypothyroidism.

(2) Endemic Cretinism:

  1. Failure of thyroid hormone production by the thyroid gland, due to genetic detect,
  2. Iodine lack on the diet.

Signs and symptoms of this condition are:

The face of the newborn looks puffy, tongue appears large and thick, Skin discoloration, Edema, Decreased muscle tone, Hypothermia, Inconsistent weight gain, Poor growth, Difficult with breathing, Excess sleeping etc.

Clinical Feature:

(1) The milestone of child’s development, such as holding up the head (3 months), sitting and dentition (6-7 months), closure of anterior fontanelle (20 weeks), standing, walking (12-18 months) etc. are all delayed.

A neonate has a thyroid gland may have normal appearance and function because it had been supplied with some thyroid Hormones by mother in “utero” but a few weeks after its movements become sluggish and physical and mental growth retardation.

(2) Skeleton: Stunted growth, short club – like fingers.

(3) Skin: Rough, thick, dry and wrinkled. Hair is scanty.

(4) Face: Bloated, idiotic look, thick-parted lips, large protruding tongue, dribbling saliva, broad nose with a depressed bridge.

(5) Abdomen: Pot-bellied, umbilicus often protruding.

(6) Sex: Secondary sex characters retarded,

(7) G1T and Metabolism:

  • Appetite is reduced,
  • BMR ↓,
  • Irregular deposition of fat.

(8) Blood: Decreased blood iodine

(9) Urine: Normal output and creatinine excretion are less.

(10) Vitamin: Carotene accumulates to cause the yellowish color of the skin. But sclera remains white.

Treatment

Adequate iodine and thyroxine hormone usually cause a normal return of physical growth. If untreated for few weeks after birth then mental growth is permanently retarded.