Close
Enter your
text here

Congenital Hypothyroidism: What Endocrinologists Need to Know

Congenital Hypothyroidism: What Endocrinologists Need to Know 1024 585 Pam Georgiana

Your top 10 questions are answered by Nationwide Children’s experts from the Division of Endocrinology.

Congenital hypothyroidism (CH) is a common endocrine disorder, affecting approximately 1 in every 2,000 to 4,000 live births globally. Confusion regarding proper screening and follow-up protocols for this serious yet preventable condition impact clinical care and outcomes for children with CH. To address these issues a quality improvement (QI) initiative was launched at Nationwide Children’s Hospital a few years ago. In addition, the American Academy of Pediatrics published an updated Clinical Report on Congenital Hypothyroidism: Screening and Management in Pediatrics in 2023.

Three members of the QI team, Kathryn Stephens Obrynba, MD, Cecilia Damilano, MD, and Shadi Bakaji, MD, recently got together to answer 10 of the most common questions endocrinologists ask about CH.

Why is it important to screen and treat CH?

Left untreated, CH can lead to severe intellectual disabilities, impaired growth and developmental delays. Newborn screening followed by confirmatory abnormal thyroid function tests and prompt initiation of levothyroxine (L-T4) therapy can prevent adverse outcomes.

What are the recommendations for newborn CH screening?

Newborn screening should be performed on all infants in conjunction with local state and public health laboratories. For healthy, term infants, screening should be done after 24 hours of life, ideally between 48-72 hours, and before hospital discharge or by 1 week of age, whichever comes first. There are three different types of screening, depending on the state:

  • primary thyroid stimulating hormone (TSH), reflex thyroxine (T4) measurement
  • primary T4, reflex TSH measurement
  • combined T4 and TSH measurement

What should be done in the case of an abnormal CH screening?

In all cases, an abnormal screening should prompt immediate (within 24 hours) confirmatory measurement of serum TSH and free thyroxine (FTH). Follow-up actions will depend on the severity of the TSH measurement and the confirmatory serum sample results. When testing confirms CH, enteral L-T4 is administered once daily at 10 to 15 mcg/kg. Treatment should start as soon as possible, ideally by 2 weeks of age.

Which special populations require or benefit from a second screen?

Despite a normal test, a repeat screen at age 2 to 4 weeks is recommended in specific high-risk populations. These include infants who are born acutely ill and admitted to NICU; infants born preterm (less than 32 weeks) and very low birth weight (less than 1,500g); monozygotic or same sex twins for whom zygosity is unknown; multiple births; and infants with trisomy 21.

Is imaging useful in the diagnosis and management of CH?

Imaging with thyroid ultrasonography or scintigraphy, performed in an experienced center, may reveal an etiology of CH and inform prognosis. For instance, thyroid agenesis could suggest a permanent form of CH. However, imaging will not change the clinical management of most CH patients before age three and should never delay treatment.

How often should clinical evaluation and follow-up testing be conducted for patients with CH?

Serum TSH and free T4 should be measured 1 to 2 weeks after starting L-T4 treatment and every 2 weeks until serum TSH level is normal. Then, testing should occur every 1 to 2 months up to age 6 months, every 2 to 3 months between ages 6 and 12 months, and every 3 to 4 months between ages 1 and 3.

When should a clinician suspect permanent vs. transient CH?

Patients who have thyroid dysgenesis or a TSH increase of more than 10 mIU/L after the first year of life are considered to have permanent CH. These patients should remain on lifelong L-T4 therapy. In other patients, stopping L-T4 therapy on a trial basis could be considered at age 3, particularly if they require a low dose of L-T4 (less than 2 mcg/kg per day).

What is the goal of L-T4 treatment?

Treatment should maintain normal neurocognitive development and growth, rapid normalization of serum TSH and FT4 levels (ideally within 2 to 3 weeks of treatment start), and after initial normalization, maintain TSH in the age-specific reference range, with FT4 levels in the upper half, unless this results in a suppressed TSH level.

What should clinicians do if newborn testing is normal but the patient has clinical features suggesting CH?

Physicians should consider hypothyroidism, despite normal thyroid results, if clinical symptoms are present. These signs include large posterior fontanelle, large tongue, umbilical hernia, prolonged jaundice, constipation, lethargy or hypothermia. In those cases, the measurement of serum TSH and FT4 is indicated.

What is Nationwide Children’s doing to improve outcomes for CH patients?

The team’s QI initiative has successfully increased the percentage of patients with CH who achieve normal TSH values within a rolling 12-month period from a baseline of 77% to 94%, an improved performance that continues to be sustained. This QI initiative demonstrates how a structured, multidisciplinary team, system-based interventions, ongoing collaboration among providers, and care coordination can improve patient outcomes.

 

References:

  1. Obrynba K, Bakjaji S, Anglin K, Clotts T, Young C, Dorsten B, Damilano C. A quality improvement project to improve clinical care for patients with congenital hypothyroidism. Hormone Research in Paediatrics. 2024;97:111-112.
  2. Rose SR, Wassner AJ, Wintergerst KA, Yayah-Jones N-H, Hopkin RJ, Chuang J, Smith JR, Abell K, LaFranchi SH, Section on Endocrinology Executive Committee, Council on Genetics Executive Committee. Congenital hypothyroidism: screening and management. Pediatrics. 2023;151(1):e2022060419.

 

About the author

Pam Georgiana is a brand marketing professional and writer located in Bexley, Ohio. She believes that words bind us together as humans and that the best stories remind us of our humanity. She specialized in telling engaging stories for healthcare, B2B services, and nonprofits using classic storytelling techniques. Pam has earned an MBA in Marketing from Capital University in Columbus, Ohio.

You might also like