CLINICAL REPORT Guidance for the Clinician in Rendering Pediatric Care
Congenital Hypothyroidism: Screening
and Management
Susan R. Rose, MD, FAAP,a Ari J. Wassner, MD,b Kupper A. Wintergerst, MD, FAAP,c Nana-Hawa Yayah-Jones, MD,d
Robert J. Hopkin, MD, FAAP,e Janet Chuang, MD,a Jessica R. Smith, MD,b Katherine Abell, MD,f,g
Stephen H. LaFranchi, MD, FAAPh
Untreated congenital hypothyroidism (CH) leads to intellectual
disabilities. Newborn screening (NBS) for CH should be performed in all
infants. Prompt diagnosis by NBS leading to early and adequate treatment
results in grossly normal neurocognitive outcomes in adulthood.
However, NBS for hypothyroidism is not yet practiced in all countries
globally. Seventy percent of neonates worldwide do not undergo NBS.
The recommended initial treatment of CH is levothyroxine, 10 to
15 mcg/kg daily. The goals of treatment are to maintain consistent
euthyroidism with normal thyroid-stimulating hormone and with free
thyroxine in the upper half of the age-specific reference range during
the first 3 years of life. Controversy remains regarding the detection of
thyroid dysfunction and optimal management of special populations,
including preterm or low-birth-weight infants and infants with
transient or mild CH, trisomy 21, or central hypothyroidism.
NBS alone is not sufficient to prevent adverse outcomes from CH in a
pediatric population. In addition to NBS, the management of CH requires
timely confirmation of the diagnosis, accurate interpretation of thyroid
function testing, effective treatment, and consistent follow-up. Physicians
need to consider hypothyroidism in the face of clinical symptoms, even if
NBS thyroid test results are normal. When clinical symptoms and signs of
hypothyroidism are present (such as large posterior fontanelle, large
tongue, umbilical hernia, prolonged jaundice, constipation, lethargy, and/
or hypothermia), measurement of serum thyroid-stimulating hormone
and free thyroxine is indicated, regardless of NBS results.
Congenital hypothyroidism (CH) is an inborn condition in which
thyroid hormone (TH) levels are insufficient for the normal
development and function of body tissues. CH is one of the most
common preventable causes of intellectual disability worldwide.
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abstract
a
Divisions of Endocrinology, dEndocrinology and Diabetes, eHuman
Genetics, fDepartment of Pediatrics, Cincinnati Children’s Hospital
Medical Center, University of Cincinnati College of Medicine, Cincinnati,
Ohio; bDivision of Endocrinology, Boston Children's Hospital, Harvard
Medical School, Boston, Massachusetts; cDepartments of Pediatrics,
Division of Endocrinology & Diabetes, Wendy Novak Diabetes Center,
University of Louisville, School of Medicine, Norton Children’s Hospital,
Louisville, Kentucky; gDivision of Genetics and Genomic Medicine,
Department of Pediatrics, Washington University School of Medicine,
St. Louis, Missouri; and hDepartment of Pediatrics, Doernbecher
Children’s Hospital, Oregon Health & Sciences University, Portland,
Oregon
Drs Rose, Wassner, Wintergerst, Yayah-Jones, Hopkin, Chuang,
Smith, Abell, and LaFranchi were equally responsible for
conceptualizing, writing, and revising the manuscript and
considering input from all reviewers and the board of directors;
and all authors approved the final manuscript as published and
agree to be accountable for all aspects of the work.
This document is copyrighted and is property of the American
Academy of Pediatrics and its Board of Directors. All authors have
filed conflict of interest statements with the American Academy of
Pediatrics. Any conflicts have been resolved through a process
approved by the Board of Directors. The American Academy of
Pediatrics has neither solicited nor accepted any commercial
involvement in the development of the content of this publication.
Clinical reports from the American Academy of Pediatrics benefit
from expertise and resources of liaisons and internal (AAP) and
external reviewers. However, clinical reports from the American
Academy of Pediatrics may not reflect the views of the liaisons or
the organizations or government agencies that they represent.
The guidance in this report does not indicate an exclusive course
of treatment or serve as a standard of medical care. Variations,
taking into account individual circumstances, may be appropriate.
All clinical reports from the American Academy of Pediatrics
automatically expire 5 years after publication unless reaffirmed,
revised, or retired at or before that time.
To cite: Rose SR, Wassner AJ, Wintergerst KA, et al; AAP
Section on Endocrinology, AAP Council on Genetics, Pediatric
Endocrine Society, American Thyroid Association. Pediatrics.
2023;151(1):e2022060419
FROM THE AMERICAN ACADEMY OF PEDIATRICS
 BACKGROUND
In the majority of infants with CH,
the disorder is permanent and
results from abnormal thyroid gland
development or a defect in TH
synthesis.1 Less commonly, CH may
result from abnormal pituitary or
hypothalamic control of thyroid
function. In some infants with CH,
thyroid dysfunction is transient.2–6
Transient CH can be caused by
transplacental passage of maternal
antithyroid drugs (carbimazole,
methimazole, or propylthiouracil) or
thyroid-stimulating hormone (TSH)
receptor-blocking antibodies
(TRBAb), iodine deficiency or
excess, or certain genetic forms of
dyshormonogenesis (see section on
Assessment of Permanence in the
accompanying technical report1).
Newborn screening (NBS) for CH
(and other disorders) is performed
at 24 to 72 hours of life. In addition,
CH also may be detected on a
second newborn screen performed
at 2 to 4 weeks of age.7 Clinical and
laboratory follow-up of children
with CH is essential for appropriate
management.7–9
Iodine is a critical component of TH
production, and iodine deficiency
also remains one of the most
common preventable causes of
intellectual disability worldwide.
Although North America is overall
an iodine-sufficient region, recent
data indicate that more than one-
half of pregnant women in the
United States may have mild iodine
deficiency.10,11 A prenatal vitamin
containing 150 mcg of iodine daily
should be taken by all women
before and during pregnancy and
lactation.12,13
NBS for CH followed by prompt
initiation of levothyroxine (L-T4)
therapy can prevent severe intellectual
disability, psychomotor dysfunction,
and impaired growth2,7–9,14–16 and
has been adopted in many countries
throughout the world.2,7–9,17,18 The
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incidence of CH ranges from 1 in
2000 to 1 in 4000 newborn infants
in countries from which NBS data
are available.18 This incidence is
significantly higher than that
reported in the early years of NBS
(1 in 4000), primarily because of
changes in screening strategies that
have led to increased detection of
milder cases of CH.18–21
Some NBS programs report results
in whole blood units, and other
programs report results in serum
units. Based on the assumption that
the average newborn hematocrit is
55%, results expressed in serum
units are 2.2-fold higher than
those expressed in whole blood
units; for example, a screening TSH
of 15 mIU/L in whole blood is
roughly equivalent to a TSH of
33 mIU/L in serum.22 Clinicians
should identify whether NBS results
in their region are expressed in
whole blood or in serum units. Most
NBS programs in the United States
and some in Canada express results
in serum units, but many in Canada
and the rest of the world express
results in whole blood units.
Throughout this report, results are
expressed in serum units.
RECOMMENDATIONS
I. Newborn Screening
A. NBS for CH should be performed
on all infants in conjunction with
state or provincial public health
laboratories (see section on NBS
Specimen in the accompanying
technical report1).7–9
1) Obtain a dried blood spot for
NBS by heel stick on approved
filter paper card specimens.
2) For the normal newborn
infant, obtain the NBS
specimen after 24 hours of
life (preferably between 48 to
72 hours) and before hospital
discharge or 1 week of life,
whichever is sooner.
3) If the newborn is discharged
before 24 hours of life, obtain
the NBS specimen before
hospital discharge. NBS before
24 hours of life has an
increased risk of false-positive
results. Perform the initial NBS
before blood transfusion, if
required before 48 hours of age.
4) Any of 3 NBS strategies may
be used to screen for CH (see
section on NBS Test Strategies
in the accompanying technical
report1):
- primary TSH, reflex thyroxine
(T4) measurement;
- primary T4, reflex TSH mea-
surement; or
- combined T4 and TSH mea-
surement.
B. If a newborn infant is transferred
to another hospital, the
transferring hospital should
indicate whether the NBS
specimen has been obtained. If
the NBS specimen has not been
obtained, the receiving hospital
should obtain an NBS specimen
after transfer.
C. If any NBS result for CH is abnormal,
serum TSH and free thyroxine
(FT4) should be measured.
D. If the first NBS is normal, perform
a second NBS at 2 to 4 weeks of
age in newborns who:
- are acutely ill (admitted to a
NICU);
- are preterm (<32 weeks
gestation);
- have very low birth weight
(<1500 g);
- received a transfusion before
obtaining the NBS;
- have a monozygotic twin
(or a same-sex twin, if zygosity
is not known) or multiple
birth; or
- have trisomy 21 (see section on
NBS in Special Populations in
the accompanying technical
report1).
Repeat NBS testing is
recommended rather than
measurement of serum TSH
 and FT4 because of the much facilitate appropriate follow-up - It is suggested that NBS
lower cost of NBS (see section care. programs work toward creating
on Special Populations, - The screening program should a system in which NBS test
communicate NBS results results are automatically
Preterm/Low Birth Weight
promptly both to the birthing entered in the patient’s
Infants in the accompanying
location/hospital (where they electronic health record and
technical report1). are available to both the
should be entered in the
electronic health record, if birthing hospital and the PCP.
E. If a second NBS performed before
possible) and to the PCP (if Electronic health records could
36 weeks’ corrected gestational build some clinical decision
known), along with an
age is normal, repeat NBS testing support consistent with the
interpretation of the screening
is recommended 4 weeks later guidance in this document.
test results and
(6–8 weeks of life) or at 36
recommendations for follow-up II. Management of Abnormal NBS
weeks’ corrected gestational age,
testing, if appropriate.24 PCPs (see Fig 1 and section on
whichever is earlier.23
are responsible for reviewing Interpretation and Management of
F. When NBS is performed after 1
NBS test results for newborn Confirmatory Serum Testing Results
week of life, use age-specific in the accompanying technical
infants in their care, as they
reference ranges to interpret
would for any test result for report1)
results. NBS programs should
their patients.
provide age-specific reference H. If a PCP receives NBS results for A. When the PCP receives an abnormal
ranges for interpretation. a patient for whom he or she is NBS result for CH, a confirmatory
G. The NBS program should commu- not caring or whom he or she measurement of TSH and FT4 in a
nicate abnormal results directly cannot locate, the PCP should serum sample should be obtained
to the primary care provider notify the NBS program as soon as possible (within
(PCP) in a timely fashion to immediately. 24 hours, when possible).

Newborn Screening Results

TSH normal TSH normal TSH high TSH high

T4 normal T4 low T4 normal T4 low

• Repeat NBS per local guidelines, if

applicable (see secons 1D & 1E) Measure
• Roune well newborn care serum TSH and FT4

• Measure serum TSH and FT4 Measure

TSH normal TSH normal
• Start treatment immediately serum TSH and FT4
FT4 normal FT4 low aer serum tests are drawn

Possible TBG Central hypothyroidism vs.

deficiency transient hypothyroxinemia
TSH high TSH normal
TSH >20 mU/L
FT4 normal
• Consider measuring • Consult Endocrinology
serum TBG • Consider pituitary evaluaon
• No treatment FT4 low FT4 normal

• Disconnue treatment, if applicable

• Repeat NBS per local guidelines, if applicable
Results of newborn screening tests should be interpreted according to local Start (or connue) (see secons 1D & 1E)
EITHER
newborn screening program reference ranges. Results of serum tests (TSH and treatment • Roune well newborn care
FT4) should be interpreted according to age-specific reference ranges for the
performing laboratory.

the IF:
Monitor TSH and FT4
recommended me. Samples collected before 24 hours of life may cause false- • FT4 becomes low every 12 weeks
posive screening results (see text). • TSH remains >10 mU/L aer 4 weeks of life

FIGURE 1
Algorithm for action after newborn screening for congenital hypothyroidism.

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 B. Consultation with a pediatric accompanying technical should be given to the timing of
endocrinologist is indicated, if report1). this evaluation before starting
possible, to assist in diagnosis and E. Subsequent actions are based on L-T4 treatment, because such
management. the results of the confirmatory treatment may lower cortisol
C. Immediate follow-up actions are serum sample: levels.
based on the TSH level of the - If serum TSH is elevated and
NBS: serum FT4 is low, initiate (or III. Imaging
1) If the NBS TSH is >40 mIU/L, continue) L-T4 treatment.
L-T4 treatment should be - If serum TSH is >20 mIU/L and A. Thyroid imaging is optional in
initiated after drawing the serum FT4 is normal, initiate the evaluation of infants with CH
confirmatory serum sample, (or continue) L-T4 treatment. and may be performed if the
without waiting for the - If serum TSH is elevated but results will influence clinical
results. #20 mIU/L and serum FT4 is management. The decision to
2) If the NBS TSH is #40 mIU/L, normal, L-T4 treatment may be undertake imaging may be
await the results of the initiated, or serum TSH and assisted by consultation with a
confirmatory serum sample FT4 may be monitored closely pediatric endocrinologist.
(preferably with a 24-hour every 1 to 2 weeks without B. Attempts to perform imaging should
turnaround time), and treatment. If FT4 becomes low, never delay the treatment of CH.
hold off on starting L-T4 or if TSH elevation >10 mIU/L - Imaging with thyroid
treatment. persists beyond 4 weeks of age, ultrasonography or
D. The infant should be evaluated L-T4 treatment is scintigraphy may assist in
by a physician (PCP or pediatric recommended. establishing the etiology of
endocrinologist) without delay, - In infants with serum TSH CH.26 However, in many cases,
optimally within 24 hours or on elevation >5 mIU/L but imaging does not alter the
the next office day after the NBS #10 mIU/L that persists clinical management of the
results are received. The beyond 4 weeks of age, there is patient before age 3 years
physician should: insufficient evidence to (see section on Imaging in the
1) Obtain a complete history that recommend treatment versus accompanying technical
includes prenatal maternal observation. In such cases, report1). Accurate scintigraphy
thyroid status, maternal consultation with a pediatric can only be performed when
medications, and family endocrinologist (if it has not the TSH is elevated; it may be
history. already occurred) is performed before initiating
2) Perform a complete physical recommended to formulate a L-T4 treatment or within the
examination. management plan specific to first 2 to 3 days after initiating
3) Assess the risk of TRBAb- the patient. treatment. Scintigraphy can
mediated hypothyroidism and - If serum TSH is normal or low also be performed after
consider measuring TRBAb in and serum FT4 is low, evaluate 3 years of age during a trial off
the infant and/or mother if for possible central L-T4 therapy.
there is a history of a hypothyroidism with further
maternal autoimmune thyroid testing as clinically indicated. IV. Genetic Testing (see section on
disorder or a previous infant Obtain confirmatory serum Genetic Testing in the
affected by maternal TRBAb. testing, including TSH with FT4. accompanying technical report1)
If TRBAb are present, no Measuring a thyroxine-binding
specific additional treatment globulin concentration when T4 A. For children with isolated primary
is needed besides is low but FT4 is normal may CH, genetic testing is an option
management of the assist in distinguishing central when a genetic diagnosis would
hypothyroidism, and a hypothyroidism from alter clinical management.
transient course may be thyroxine-binding globulin B. For central CH or CH associated
anticipated. deficiency.25 Infants with with clinical features of a
4) Consider obtaining imaging to central CH should be evaluated, recognizable syndrome or an
establish the etiology of CH in consultation with a pediatric underlying genetic condition,
but only if the results will endocrinologist, for additional consultation with a geneticist is
influence clinical management hypothalamic-pituitary recommended. The decision to
(see section on Imaging in the dysfunction. Consideration undertake genetic testing may be

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 assisted by consultation with a oral solution of L-T4 is approved provided to caregivers may enable
pediatric endocrinologist or by the US Food and Drug adherence and avoid administration
geneticist. Administration for use in errors.
C. Infants with trisomy 21 who do children; however, limited Educational resources can be
not have CH are at risk for experience with its use showed obtained from the American
developing primary that dosing may differ slightly Thyroid Association (www.
hypothyroidism during the first from dosing with tablet thyroid.org/congenital-
year of life. Therefore, in infants formulations.29,30 L-T4 hypothyroidism/), the Pediatric
with trisomy 21: suspensions prepared by Endocrine Society (https://
- A second NBS should be compounding pharmacies may pedsendo.org/patient-resource/
performed at 2 to 4 weeks of lead to unreliable dosing.31,32 congenital-hypothyroidism/), the
life. E. L-T4 can be administered at any
Endocrine Society (education.en-
D. Serum TSH should be measured time of day in infants and
docrine.org/content/congenital-
at 6 and 12 months of life. toddlers (morning or evening,
hypothyroidism-pim-diagnosis-
with or without feeds), as long as
V. Treatment (Table 1) and-management), NIH (ghr.nlm.
the timing and manner of
nih.gov/condition/congenital-
administration are consistent.
A. CH should be treated with enteral Coadministration with soy, fiber, hypothyroidism), the Magic Foun-
L-T4 at a starting dose of 10 to iron, or calcium can impair L-T4 dation (www.magicfoundation.org/
15 mcg/kg/day administered absorption. Breastfeeding may Misc/ViewContent.aspx?Content
once daily (see section on continue without interruption.33 ID=856ac9d3-dec2-4f96-81be-
Treatment in the accompanying If enteral administration is not b36e257afb88), and others.
technical report1).8–10,27 possible, L-T4 can be
B. Treatment should be initiated as administered intravenously at G. The goal of L-T4 treatment is to
soon as possible after the 75% of the enteral dose.34 support normal neurocognitive
diagnosis is confirmed (optimally F. The endocrinologist and/or PCP development and growth.
by 2 weeks of age if identified on should provide critical parental Achieving optimal outcome
the first NBS). education regarding (1) the depends on early initiation of
C. Downward adjustment of the etiology of CH, (2) the benefit of adequate L-T4 treatment
dose after laboratory evaluation early diagnosis and treatment in (optimally by 2 weeks of age
at 2 weeks of age may be needed preventing intellectual disability, when detected on the first NBS),
to avoid overtreatment.28 (3) the appropriate method for particularly in severe cases of
D. Enteral administration of L-T4 administering L-T4, (4) substances CH.27,35 Rapid normalization of
tablets is the treatment of choice. that can interfere with L-T4 serum FT4 and TSH levels
L-T4 tablets can be crushed and absorption (eg, soy, iron, calcium, (optimally within 2 to 4 weeks of
suspended by the parent or and/or fiber), and (5) the treatment initiation) leads to
guardian in 2 to 5 mL (1 tsp) of importance of adherence to the improved neurocognitive
human milk, nonsoy-containing treatment plan, including regular outcomes (see section on
formula, or water. A commercial follow-up care. Written instructions Developmental Outcomes in the
accompanying technical
TABLE 1 Treatment and Monitoring of Congenital Hypothyroidism report1).36–40 Delayed initiation
Treatment with levothyroxine of treatment and longer time to
Administer daily at a consistent time and in a consistent manner
Preferred: enteral route
normalization of thyroid function
Preferred: tablets, crush and suspend in 2–5 mL of human milk, non-soy-containing formula, or are associated with poorer
water outcomes.41,42
Alternative: commercial branded oral solution After initial normalization, serum
Administer with or without food
TSH should be maintained in the
Alternative route: intravenous route
75% of enteral dosing age-specific reference range; serum
Laboratory monitoring FT4 levels should be maintained in
Preferred: TSH and FT4 the upper half of the age-specific
Alternative: TSH and Total T4
reference range unless achieving a
Therapeutic targets:
TSH:a age-specific reference range (generally 0.5–5 mIU/L after 3 mo of life) serum FT4 level in this range would
FT4 (or total T4): upper half of age-specific reference range result in a TSH level less than the
a
For central hypothyroidism, measure only FT4 (or total T4). reference range.

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 Ideally, the same L-T4 formulation D. Every 1 to 2 months during the
should be maintained consistently first 6 months of life (monthly in
until 3 years of age to achieve infants with severe CH [initial
consistent euthyroidism and serum
minimize the need for additional TSH >100 mIU/L or FT4
laboratory monitoring. If feasible, <0.4 ng/dL]);
the use of a brand name L-T4 E. Every 2 to 3 months during the
formulation to provide a consistent second 6 months of life; and
formulation may be superior for F. Every 3 to 4 months between 1
children with severe CH.43 If generic and 3 years of age.
Ideally, blood samples for laboratory
L-T4 is prescribed, it is preferable to
use L-T4 from a consistent tests should be obtained at least
manufacturer. 4 hours after the administration of
L-T4 to avoid spurious elevation of
Treatment with liothyronine FT4 level.
generally is not indicated. The use of
VII. Long-Term Follow-Up
liothyronine in patients with
persistent severe resistance to
thyroid hormone (elevated TSH A. After 3 years of age, measure-
despite elevated FT4), in whom ment of TSH is recommended:
1) Every 6 to 12 months until
adequate control cannot be
growth is complete;
established with L-T4 alone has not
B. Four to six weeks after any
been demonstrated to improve
change in LT-4 dose or
outcomes and should be considered
formulation; and
only in consultation with a pediatric
C. At more frequent intervals in
endocrinologist.44,45
children with severe CH,
VI. Monitoring (Table 1) problems with adherence to the
L-T4 treatment plan, or TSH
levels outside the age-specific
A. During the first 3 years of life,
reference range.
clinical evaluation should be D. After 3 years of age, monitoring
conducted regularly (as specified of TSH is sufficient. FT4 may be
below), including assessment of measured if medication
developmental progress and adherence or suboptimal control
growth (see section on is a concern.
Monitoring in the accompanying E. After the first 3 years of life, clinical
technical report1). evaluation and assessment of
B. Because of the increased risk of growth and development should be
hearing deficits in individuals performed every 6 to 12 months.
with CH, formal hearing F. Pediatric endocrinologists should
evaluation should be considered establish protocols for tracking
whenever there is clinical children with CH in their practice
concern for a hearing deficit or to optimize management and
abnormal language prevent loss to follow-up (see
development.14,46 section on Long-Term Follow-up
C. Serum TSH and FT4 should be in the accompanying technical
measured10,47,48 (www.aap.org/ report1). Currently, many patients
en-us/Documents/ in whom CH is diagnosed are lost
periodicity_schedule.pdf): to follow-up.49–52 Because
1) One to 2 weeks after the inadequate treatment of CH may
initiation of L-T4 treatment have negative consequences for
and every 2 weeks until development, the endocrinologist
serum TSH level is normal; can establish protocols to help
prevent children with CH from
being lost to follow-up. Examples
may include the monitoring of
appointments/scheduling and
prescription refills and telephone
outreach. The PCP also has an
important role in ensuring that
affected children remain on L-T4
therapy for CH.53
VIII. Assessment of the Permanence
of Hypothyroidism
A. CH is confirmed to be permanent
in cases of thyroid dysgenesis or
if the serum TSH increases
>10 mIU/L after the first year of
life (see section on Assessment of
Permanence in the accompanying
technical report1).
B. Patients with permanent CH should
remain on lifelong L-T4 therapy.
C. If a diagnosis of permanent CH
has not been confirmed, a trial off
L-T4 therapy should be strongly
considered at 3 years of age,
particularly if the patient is
adequately treated with a low
dose of L-T4 (<2 mcg/kg/day). A
trial off L-T4 may be conducted
as follows:
1) Discontinue L-T4 for 4 weeks,
then measure serum TSH and
FT4 levels.54
2) If TSH and FT4 levels remain
in the age-specific reference
range, transient CH is
confirmed.
3) If the TSH is >10 mIU/L and/
or FT4 is low, permanent CH
is confirmed and LT-4 therapy
should be reinstituted.
4) If the TSH is mildly elevated
(greater than the age-specific
reference range, but #10
mIU/L) and FT4 is normal,
repeat serum TSH and FT4
levels in another 4 to 8 weeks
to determine if there is (1)
normal thyroid function
(indicating transient CH),
(2) permanent CH (TSH
>10 mIU/L or low FT4), or
(3) persistent hyperthyrotropinemia

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 (TSH persistently elevated neurodevelopment can result from COUNCIL ON GENETICS EXECUTIVE
but #10 mIU/L, with normal hypothyroidism in infants who had COMMITTEE, 2020–2021
FT4). There is insufficient normal NBS results when Leah W. Burke, MD, MA, FAAP
evidence to determine if the hypothyroidism manifests or is Timothy A. Geleske, MD, FAAP
treatment of persistent acquired after NBS, or when errors Ingrid A. Holm, MD, FAAP
hyperthyrotropinemia is of occur in NBS screening. Wendy J. Introne, MD, FAAP
clinical benefit, but many Hypothyroidism may be present in Kelly Jones, MD, FAAP
practitioners elect to treat it infants in whom NBS screening was Michael J. Lyons, MD, FAAP
out of caution. not performed (eg, some home Danielle C. Monteil, MD, FAAP
5) It is critical that patients not deliveries) or results were not Amanda B. Pritchard, MD, FAAP
be lost to follow-up while Pamela Lyn Smith Trapane, MD, FAAP
communicated to the infant’s PCP.55
trialing off L-T4 therapy. Samantha A. Vergano, MD, FAAP
Therefore, when clinical symptoms
or signs of hypothyroidism are Kathryn Weaver, MD, FAAP
DEVELOPMENTAL OUTCOME present (such as large posterior
NBS has substantially improved fontanelle, large tongue, umbilical LIAISONS
neurodevelopmental outcomes in hernia, prolonged jaundice, Aimee A. Alexander, MS, CGC,
patients with CH, and severe constipation, lethargy, and/or Centers for Disease Control and
intellectual impairment typically hypothermia), measurement of Prevention
does not occur in patients who serum TSH and FT4 is indicated, Christopher Cunniff, MD, FAAP,
receive the diagnosis and are regardless of NBS results. American College of Medical Genetics
treated early and adequately (see Mary E. Null, MD, Section on
section on Developmental Outcome Pediatric Trainees
in the accompanying technical LEAD AUTHORS Melissa A. Parisi, MD, PhD, FAAP,
report1). Adequate L-T4 treatment of National Institute of Child Health
Susan R. Rose, MD, FAAP
CH (early initiation of L-T4 10 to and Human Development
Ari J. Wassner, MD, American
15 mcg/kg/day, with normalization Steven J. Ralson, MD, American
Thyroid Association Representative
of thyroid function within 2 weeks) College of Obstetricians and
results in grossly normal Kupper A. Wintergerst, MD, FAAP Gynecologists
neurocognitive function in Nana-Hawa Yayah Jones, MD Joan Scott, MS, CGC, Health
adulthood.27 However, detailed Robert J. Hopkin, MD, FAAP Resources and Services
studies reveal neuropsychologic Janet Chuang, MD Administration
deficits in some children with CH, Jessica R. Smith, MD, Pediatric
including impaired visuospatial Endocrine Society Representative STAFF
processing and deficits in memory Katherine Abell, MD
Paul Spire
and sensorimotor function. If a child Stephen H. LaFranchi, MD, FAAP
is adequately treated for CH but
developmental progress and/or
SECTION ON ENDOCRINOLOGY ABBREVIATIONS
growth is abnormal, evaluation for
potential intercurrent illness, EXECUTIVE COMMITTEE, 2020–2021 CH: congenital hypothyroidism
hearing deficit,46 or other hormone Kupper A. Wintergerst, MD, FAAP FT4: free thyroxine
deficiency is warranted. Kathleen E. Bethin, MD, FAAP L-T4: levothyroxine (medication)
Brittany Bruggeman, MD, FAAP NBS: newborn screening
CONCLUSIONS (Fellowship Trainee) PCP: primary care provider
Jill L. Brodsky, MD, FAAP TH: thyroid hormone
Despite the evident success of NBS,
TRBAb: thyroid-stimulating
physicians need to consider David H. Jelley, MD, FAAP
hormone receptor-
hypothyroidism when clinical Bess A. Marshall, MD, FAAP
blocking antibodies
symptoms are present that suggest Lucy D. Mastrandrea, MD, PhD,
TSH: thyroid-stimulating
this diagnosis, despite previous FAAP
hormone
normal NBS thyroid test results. Jane L. Lynch, MD, FAAP (Immediate
Failure of normal Past Chairperson)

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 DOI: https://doi.org/10.1542/peds.2022-060419
Address correspondence to Susan R. Rose, MD, FAAP. E-mail: mslrose4@gmail.com
PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275).
Copyright © 2023 by the American Academy of Pediatrics
FUNDING: No external funding.
FINANCIAL/CONFLICT OF INTEREST DISCLOSURES: Dr LaFranchi reported a financial relationship with UpToDate as an author on the topic of congenital
hypothyroidism and a financial relationship with IBSA Pharma as an advisory board member. Dr Hopkin reported a consultant relationship with Sanofi and
received honoraria.
COMPANION PAPER: A companion to this article can be found online at http://www.pediatrics.org/cgi/doi/10.1542/peds.2022-060420.

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