Congenital hypothyroidism (Paediatrics)

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It is the decrease in the production of thyroid hormone in a newborn.

It is the most frequent cause of the endocrine alterations of the newborn. It can be caused by absence or insufficient development of the thyroid gland (the most common defect), dysfunctional pituitary gland, thyroid hormones that are poorly formed or do not work, side effects of medications that the mother took during pregnancy, lack of iodine in the mother during the gestational period and/or antibodies produced by the mother's body that block the baby's thyroid function. Girls are affected twice as many times as boys.

Most have few symptoms or are asymptomatic. When hypothyroidism is severe, clinical manifestations may include episodes of asphyxia, constipation, dry and fragile hair, jaundice, lack of muscle tone (hypotonic baby), low hair implantation, poor diet, short stature, drowsiness and/or slowness.

The diagnosis is made through the clinical questioning, complete physical examination and complementary tests such as blood tests, X-rays of long bones and scintigraphy of the thyroid gland.

The treatment is based on the control of symptoms and the administration of thyroxine. Once the child begins taking this medicine, blood tests are done regularly to verify that the thyroid levels are within a normal range.

Bibliographic references
  1. Stephen LaFranchi, MD. Clinical features and detection of congenital hypothyroidism. Uptodate. Nov 18, 2015.
  2. Stephen LaFranchi, MD. Treatment and prognosis of congenital hypothyroidism. Uptodate. Sep 20, 2016.
  3. Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis 2010; 5:17.
  4. Grüters A, Krude H. Detection and treatment of congenital hypothyroidism. Nat Rev Endocrinol 2011; 8:104.
  5. J.Larry Jameson, Susan J. Mandel, Anthony P. Weetman. Trastornos de la glándula tiroides. Harrison. Principios de Medicina Interna. Volumen 2. 19º Edición. 2289:2290.
  6. M.Foz. Enfermedades del tiroides. Farreras Rozman. Medicina Interna. Volumen 2. 12º edición. 2016:2024.
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Symptoms

    Hoarse crying


    Delayed growth


    Muscle flaccidity


    Dry, brittle hair


    Dry skin

Symptoms to watch out for

Lack of desire for food
Skin's colouration change into yellow
Irritability or reduced response to stimuli
Lack of muscle tone

Self-care

Check with your general practitioner about the prescription for thyroid hormone.