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Down syndrome: Endocrine problems and what to expect?

Down Syndrome is a disorder which is one of the most common chromosomal disorder and affects one in 800 liveborn babies.

Down Syndrome is a condition that is related to genetics in chromosome 21. There is an abnormal cell division resulting in extra genetic material of chromosome 21. Down Syndrome is responsible for developmental issues and intellectual delays in children.

Symptoms of Down Syndrome:

  • Distinct Facial Features
  • Abnormal shape of head, ears, and mouth
  • Eyes which slant upward
  • Short Fingers
  • Widely separated fingers

Effects of Down Syndrome:

  • Less cognitive skills
  • Heart Disease
  • Epilepsy
  • Hearing Loss
  • Sleep Apnea
  • Endocrinopathies

Endocrine Problems:

There is a strong connection between endocrine problems and Down syndrome. Endocrine problems in these children have more chances of occurrence than the general population.

  • Thyroid Dysfunction- Hypothyroidism or Hyperthyroidism
  • Short Height
  • Overweight or underweight
  • Lower Bone Mass
  • Diabetes type 1 or Diabetes type 2


The thyroid gland, which secretes the thyroid hormone, is located in the neck of a person. The thyroid gland secretes two hormones, and they are thyroxine (T4) and triiodothyronine (T3). Both of these hormones are responsible for the normal functioning of all cells, which makes them extremely vital for our body functions. The thyroid gland dysfunction leads to Hypothyroidism. The thyroid gland plays some particular function in human beings.
The thyroid gland is responsible for the hormones related to Hypothyroidism results from a malfunctioning thyroid gland. The thyroid gland is responsible for some fundamental metabolic processes which control and regulate hormones. The synthesis of thyroxine hormone is significantly decreased. Hypothyroid is commonly found in children who are affected with Down Syndrome. It can occur at any stage of the age, from infancy to adulthood.

Diagnosis of Hypothyroidism:

Thyroid dysfunction can be disguised easily with a screening blood test by a doctor. All children are supposed to have a test of hypothyroidism at birth, and after that, some periodic checks on them because it is found commonly in these children. Doctors are advised to do the tests as soon as they recognize any of the symptoms of Down Syndrome. To check on infants is crucial because it can lead to the congenital impairment of infants if it gets unnoticed at an early stage.

Treatment of Hypothyroidism:

The treatment for Hypothyroidism is aimed to maintain the normal level of the hormone in blood, which is responsible for Hypothyroidism. Levothyroxine is used to treat Hypothyroidism. This medicine is designed to maintain the level of hormones to control Hypothyroidism.


Hyperthyroidism is a condition when the thyroid gland is overactive and secrets an abnormal amount of thyroxine hormone. The extra amount of thyroxine hormone can lead to abnormal weight loss. Signs of hyperthyroidism are:

  • Extreme Sweating
  • Weight loss
  • Swelling in the Neck
  • Fast Pulse Rate

Treatment for Hyperthyroidism:

  • Medication- Carbimazole is an anti-thyroid medicine used as medication to treat Hyperthyroidism
  • Radioactive iodine
  • Surgery.

Endocrine problems should be taken care of at an early stage to cure or control them. Down Syndrome affects the lakh of children across the world every year. Watch out for endocrine problems in children affected with Down syndrome.

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