Congenital Hypothyroidism (CH)
Hypothyroidism is condition in which thyroid gland does not produce thyroid hormone in sufficient quantity. And if this condition is present right from birth, it is called Congenital Hypothyroidism (CH).
Congenital Hypothyroidism (CH) is most common preventable cause of Mental retardation in children.
It is also known as Cretinism, Endemic Cretinism (Iodine Deficiency), Congenital Myxedema.
Hypothyroidism is usually an age related change seen in older people, especially ladies. However its incidence is on a rise in younger population too.
Newborn babies are also vulnerable; more so because there are no specific symptoms which can lead to early diagnosis. Because of this reason most of the private hospitals are now doing cord blood testing (Newborn Screening) to rule out thyroid related illnesses.
Good news for parents is that it can be diagnosed easily by testing (Newborn screening) and can be treated comfortable; so that child can live a normal life just like any other baby.
Signs and symptoms
Most of the children are asymptomatic (due to trans-placental transfer of maternal thyroid hormones)
If symptomatic; then following are the features
- Prolong Jaundice during first few weeks of life (earliest sign)
- During first month of life there is feeding difficulties (Sluggishness , sometimes even choking spells during nursing)
- Lack of interest, Somnolence (sleepy all the time), large head size (due to myxedema).
- Breathing difficulties due to large protruded tongue, also noisy breathing, nasal obstruction
- During 1st year of life babies are sleepy all the time, have poor appetite, cries very little and sluggish most of the time.
- Large protruded abdomen mostly has umbilical hernia.
- A puffy appearance to the face. Dull looking
- Cold to touch and mottled skin, edema of genital region and extremities
- Constipation not responding to treatment
- Poor muscle tone
- Anemia can be there
- Developmental delay
- Slow heart rate
In children and teenage it can lead to
- Poor growth leading to in short stature
- Delayed eruption of teeth
- Delayed puberty
- Poor mental development
Thyroid gland is a butterfly- shaped organ at base of the neck.
- Absent (agenesis) or (abnormal location) ectopic in location or underdeveloped
- Genetic causes: about 15% of cases are thought to be inherited
- Iodine deficiency in mothers
- Use of anti thyroid medicines in mothers
Diagnosis: It is done by newborn screening in most cases
- Hormone replacement is the treatment (Safe and easy in children too)
- L-thyroxine tablets are small and can be crushed into food or dissolved into a small amount of formula, juice or other liquid. No liquid formulation is available.
- Child specialist along with Pediatric Endocrinologist will treat children with thyroid or any other hormonal problems
- Treatment to be started as soon as diagnosis made; since damage to brain once done can never be reversed
- Overdosing of L-thyroxine in children can lead to
- Faster heart rate
- Loose motions
- Poor sleep
- Shakiness or tremors
- Soy-based formulas and Iron supplements can reduce the absorption of thyroid hormone.
- Regular monitoring of child every few months
- Developmental assessment
Q. My child is too small? What if I do not treat my child?
Ans. It can lead to Mental retardation and developmental delay in children. Damage once done can never be reversed.
Q. Is it genetic disease?
Ans. About 15% cases are inherited and genetic counseling need to be done. Genetic testing can be done using blood sample.
Q. What are the tests need to be done to confirm it?
Ans. If newborn screening is positive:
- then blood tests are repeated after 72 hours of life which includes TSH, T4,T3.
- Thyroid Ultrasound and Scan need to be done in certain cases
Q. Can it be diagnosed during pregnancy?
Q. Can elder siblings also have it?
Ans. If elder siblings are growing well, healthy and developmentally normal. Most likely the answer is NO.
For Any queries related thyroid disease or you want to discuss any other health related issues feel free to contact MAYA CLINIC. Or discuss with your child specialist.
Dr Rahul Varma