Anaemia‐based screening for resistance to thyroid hormone alpha in children
Authors' conclusion
This approach found one known patient with RTH-α but did not reveal any new cases. Notably, normo- or macrocytic anaemia did not persist in nearly half of the screened patients. A screening strategy that takes clinical findings and prominent laboratory features suggestive of RTH-α into account could lower unnecessary genetic analysis of THRA in patients presenting with neurological problems.
Study context
- Population
- Children at paediatric neurology outpatient clinics with normo- or macrocytic anaemia, normal thyroid-stimulating hormone (TSH), free triiodothyronine (fT3) upper-half normal or high, free thyroxine (fT4) lower-half normal or low, without specific neurological aetiology6,540 evaluated
- Participants
- 32 children
- Outcome
- Efficiency of an anaemia-based screening strategy for RTH-α (pathological THRA variant)
Methodological detailspaediatric neurology outpatient clinics, 2 years
- Paediatric neurology outpatient clinics
- 2 years
Main finding
As reported in the abstract
Subjects with a pathological variant in THRA
0
Known RTH-α patient found (excluded); no new cases
1
Further findings
Normo- or macrocytic anaemia at reassessment
- Normo- or macrocytic anaemia rate
- 47%
- Normocytic/macrocytic, n
- 8/7
Thyroid function
- Median fT3, pg/mL (IQR)
- 4.6 (4.2-5.0)
- Median fT4, ng/dL (IQR)
- 0.9 (0.8-1.0)
- Median TSH, uIU/mL (IQR)
- 2.2 (1.8-3.1)
- High fT3
- 13 (41%)
- Low fT4
- 0
Clinical features
- Autism spectrum disorder
- 12, 38%
- Epilepsy
- 11, 34%
- Developmental delay
- 8, 25%
- Constipation
- 5 (16%)
- Delayed anterior fontanelle closure
- 2 (6%)
- Delayed tooth eruption
- 1 (3%)
- Elevated creatine kinase (CK)
- 5 (16%)
Known RTH-α patients vs screened children without RTH-α
- Known RTH-α patients had significantly lower median height SD score, higher rates of delayed tooth eruption and anterior fontanelle closure, lower haemoglobin, and higher mean corpuscular volume (MCV) and CK
Original publication
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