History

In regions of iodide deficiency and a known prevalence of endemic cretinism, the diagnosis may be straightforward.

Infants with congenital hypothyroidism are usually born at term or after term.

Symptoms and signs include the following:

Decreased activity
Large anterior fontanelle
Poor feeding and weight gain
Small stature or poor growth
Jaundice
Decreased stooling or constipation
Hypotonia
Hoarse cry

Often, they are described as "good babies" because they rarely cry and sleep most of the time.

Family history should be carefully reviewed for information about similarly affected infants or family members with unexplained mental retardation.

Maternal history of a thyroid disorder and mode of treatment, whether before or during pregnancy, can occasionally provide the etiology of the infant's problem.

Congenital hypothyroidism is more common in infants with birthweights less than 2,000 g or more than 4,500 g.^{[27, 44]}

Congenital hypothyroidism is more common in multiple births, with a low concordance rate.^[29]

Physical

The physical findings of hypothyroidism may or may not be present at birth (see the image below).

An infant with cretinism. Note the hypotonic posture, coarse facial features, and umbilical hernia.

View Media Gallery

Signs include the following:

Coarse facial features
Macroglossia (See the image below.)

Note the macroglossia.
View Media Gallery
Large fontanelles
Umbilical hernia
Mottled, cool, and dry skin
Developmental delay
Pallor
Myxedema
Goiter

A small but significant number (3-7%) of infants with congenital hypothyroidism have other birth defects, mainly atrial and ventricular septal defects.^[11]

Newborn screening involves the following:

Infants with congenital hypothyroidism are usually identified within the first 2-3 weeks of life.
These infants should be carefully examined for signs of hypothyroidism, and the diagnosis should be confirmed by repeat testing.
Infants with obvious findings of hypothyroidism (eg, macroglossia, enlarged fontanelle, hypotonia) at the time of diagnosis have intelligence quotients (IQs) 10-20 points lower than infants without such findings.

Anemia may occur, due to decreased oxygen carrying requirement.

Differential Diagnoses

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Media Gallery

An infant with cretinism. Note the hypotonic posture, coarse facial features, and umbilical hernia.
Note the macroglossia.
An infant shown a few months after starting thyroid hormone replacement.
Infant a few months after starting thyroid hormone replacement.

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Author

Maala S Daniel, MBBS Attending Physician, Division of Pediatric Endocrinology, Helen DeVos Children's Hospital

Maala S Daniel, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Medical Student Association/Foundation, Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Daniel C Postellon, MD † Associate Professor or Pediatrics and Human Development, Michigan State University College of Human Medicine; Consulting Staff, Pediatric Endocrine Clinic, Helen DeVos Children's Hospital

Daniel C Postellon, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, Pediatric Endocrine Society, American Diabetes Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Barry B Bercu, MD Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital

Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Pediatric Endocrine Society, Society for Pediatric Research, Southern Society for Pediatric Research, Society for the Study of Reproduction, American Federation for Clinical Research, Pituitary Society

Disclosure: Nothing to disclose.

Chief Editor

Sasigarn A Bowden, MD, FAAP Professor of Pediatrics, Section of Pediatric Endocrinology, Metabolism and Diabetes, Department of Pediatrics, Ohio State University College of Medicine; Pediatric Endocrinologist, Division of Endocrinology, Nationwide Children’s Hospital; Affiliate Faculty/Principal Investigator, Center for Clinical Translational Research, Research Institute at Nationwide Children’s Hospital

Sasigarn A Bowden, MD, FAAP is a member of the following medical societies: American Society for Bone and Mineral Research, Central Ohio Pediatric Society, Endocrine Society, International Society for Pediatric and Adolescent Diabetes, Pediatric Endocrine Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Arlan L Rosenbloom, MD Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida College of Medicine; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology

Arlan L Rosenbloom, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, Florida Chapter of The American Academy of Pediatrics, Florida Pediatric Society, International Society for Pediatric and Adolescent Diabetes

Disclosure: Nothing to disclose.