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Congenital Hypothyroidism

Congenital thyroid insufficiency allows full development with early diagnosis and treatment.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Congenital Hypothyroidism?

Congenital hypothyroidism (CH) is a thyroid gland disorder occurring in 1 in every 2000-4000 live births that, if left untreated, leads to severe intellectual disability and growth retardation (cretinism). It is the most commonly detected endocrine disease in newborn screening.

The most common cause is thyroid dysgenesis (aplasia, hypoplasia, or ectopic thyroid), accounting for 85% of cases. Less commonly, dyshormonogenesis (thyroid hormone synthesis disorder) and transient hypothyroidism are seen.

Through TSH-based screening programs, diagnosis is usually made in the 1st-2nd week and levothyroxine treatment is started. With early-initiated treatment, the IQ difference is minimal.

Symptoms

Prolonged jaundice
Feeding difficulty and slow sucking
Hypotonia (loose muscles)
Constipation
Distended abdomen and umbilical hernia
Coarse cry, swollen tongue and puffy face (in late diagnosis)

Risk Factors

Missing the newborn screening program
Iodine deficiency region (maternal iodine insufficiency)
Family history of thyroid disease
Down syndrome (CH co-occurrence is 1%)
Prematurity
Presence of maternal antithyroid antibodies

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Immediately to an endocrinologist when the screening TSH value is high
  • In a newborn with prolonged jaundice or feeding difficulty
  • When hypotonia and constipation occur together
  • For regular levothyroxine dose adjustment

Treatment Methods

01
Levothyroxine oral treatment: should be started as soon as possible
02
Starting dose: 10-15 mcg/kg/day
03
Dose titration: with TSH and free T4 monitoring every 1-3 months
04
Developmental and neurodevelopmental follow-up: regular pediatric monitoring
05
Transient CH: at age 3, treatment is stopped and thyroid function reassessed
06
Family disease education: medication regularity and adherence to follow-ups

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.