Learn About Neonatal Hypothyroidism

What is the definition of Neonatal Hypothyroidism?

Neonatal hypothyroidism is decreased thyroid hormone production in a newborn. In very rare cases, no thyroid hormone is produced. The condition is also called congenital hypothyroidism. Congenital means present from birth.

What are the alternative names for Neonatal Hypothyroidism?

Cretinism; Congenital hypothyroidism

What are the causes of Neonatal Hypothyroidism?

The thyroid gland is an important organ of the endocrine system. It is located at the front of the neck, just above where the collarbones meet. The thyroid makes hormones that control the way every cell in the body uses energy. This process is called metabolism.

Hypothyroidism in the newborn may be caused by:

  • A missing or poorly developed thyroid gland
  • A pituitary gland that does not stimulate the thyroid gland
  • Thyroid hormones that are poorly formed or do not work
  • Medicines the mother took during pregnancy
  • Lack of iodine in the mother's diet during pregnancy
  • Antibodies made by the mother's body that block the baby's thyroid function

A thyroid gland that is not fully developed is the most common defect. Girls are affected twice as often as boys.

What are the symptoms of Neonatal Hypothyroidism?

Most affected infants have few or no symptoms. This is because their thyroid hormone level is only slightly low. Infants with severe hypothyroidism often have a unique appearance, including:

  • Dull look
  • Puffy face
  • Thick tongue that sticks out

This appearance often develops as the disease gets worse.

The child may also have:

  • Poor feeding, choking episodes
  • Constipation
  • Dry, brittle hair
  • Hoarse cry
  • Jaundice (skin and whites of the eyes look yellow)
  • Lack of muscle tone (floppy infant)
  • Low hairline
  • Short height
  • Sleepiness
  • Sluggishness
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What are the current treatments for Neonatal Hypothyroidism?

Early diagnosis is very important. Most of the effects of hypothyroidism are easy to reverse. For this reason, most US states require that all newborns be screened for hypothyroidism.

Thyroxine is usually given to treat hypothyroidism. Once the child starts taking this medicine, blood tests are regularly done to make sure thyroid hormone levels are in a normal range.

Referral to a pediatric endocrinologist is recommended for care.

Who are the top Neonatal Hypothyroidism Local Doctors?
Pediatric Endocrinology | Endocrinology
Pediatric Endocrinology | Endocrinology

USC Care Medical Group Inc

1520 San Pablo St, Fl 4, 
Los Angeles, CA 
 14.3 mi

Mitchell Geffner is a Pediatric Endocrinologist and an Endocrinologist in Los Angeles, California. Dr. Geffner and is rated as an Advanced provider by MediFind in the treatment of Neonatal Hypothyroidism. His top areas of expertise are Congenital Adrenal Hyperplasia (CAH), Intersex, Ovarian Overproduction of Androgens, Short Stature (Growth Disorders), and Hormone Replacement Therapy (HRT).

Neonatology
Neonatology
101 The City Dr S, 
Orange, CA 
 14.9 mi

Bret Nolan is a Neonatologist in Orange, California. Dr. Nolan and is rated as an Advanced provider by MediFind in the treatment of Neonatal Hypothyroidism. Her top area of expertise is Neonatal Hypothyroidism.

 
 
 
 
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Neonatology
Neonatology
Uci Medical Center, 101 The City Drive South, 
Orange, CA 
 15.1 mi

Cherry Uy is a Neonatologist in Orange, California. Dr. Uy and is rated as an Advanced provider by MediFind in the treatment of Neonatal Hypothyroidism. Her top areas of expertise are Gastroschisis, Premature Infant, Bronchopulmonary Dysplasia, and Neonatal Hypothyroidism.

What is the outlook (prognosis) for Neonatal Hypothyroidism?

Getting diagnosed early usually leads to a good outcome. Newborns diagnosed and treated in the first month or so usually have normal intelligence.

Untreated mild hypothyroidism can lead to severe intellectual disability and growth problems. The nervous system goes through important development during the first few months after birth. Lack of thyroid hormones can cause damage that cannot be reversed.

When should I contact a medical professional for Neonatal Hypothyroidism?

Contact your health care provider if:

  • You feel your infant shows signs or symptoms of hypothyroidism
  • You are pregnant and have been exposed to antithyroid medicines or procedures
How do I prevent Neonatal Hypothyroidism?

If a pregnant woman takes radioactive iodine for thyroid cancer, the thyroid gland may be destroyed in the developing fetus. Infants whose mothers have taken such medicines should be observed carefully after birth for signs of hypothyroidism. Also, pregnant women should not avoid iodine-supplemented salt.

Most states require a routine screening test to check all newborns for hypothyroidism. If your state does not have this requirement, ask your provider if your newborn should be screened.

What are the latest Neonatal Hypothyroidism Clinical Trials?
Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism with in Situ Thyroid: Preliminary Data in Patients Followed At the Regional Neonatal Screening Centre for Endrocrine-Metabolic Disease in Bologna

Summary: Retro-prospective, exploratory, single-centre observational study conducted at the Endrocrine-Metabolic Diseases Centre of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy. The primary aim is to assess, by NGS sequencing of a panel of target genes, the frequency and type of variants with potential pathogenic significance in a patient population with congenital hypothy...

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Comparison of Levothyroxine Formulations in the Treatment of Congenital Hypothyroidism

Summary: Observational, retrospective, prospective, pharmacological, single-centre, non-profit study. The aim is to evaluate, in newborns diagnosed with Congenital Hypothyroidism, the medium- and long-term efficacy and safety of the new formulation of levothyroxine in oral solution, compared to the liquid drop formulation and the tablet formulation. The study will involve male and female patients referred ...

Who are the sources who wrote this article ?

Published Date: April 28, 2023
Published By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Chuang J, Gutmark-Little I. Thyroid disorders in the neonate. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 88.

Wassner AJ, Smith JR. Hypothyroidism. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 581.