A Spectrum of Thyroid Dysfunction in Children with Down Syndrome: A Malaysian Tertiary Centre Experience
https://doi.org/10.15605/jafes.041.S1
- Author:
Priyadarshini Puvanendran
1
;
Azriyanti Binti Anuar Zaini
1
;
Wan Hanaa Mardhiah Binti Wan Zainuddin
1
Author Information
1. Universiti Malaya Medical Centre
- Publication Type:Journal Article
- MeSH:
Child;
Down Syndrome;
Thyroid Gland
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):136-137
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Endocrine abnormalities are frequently observed in
children with Down syndrome, with thyroid dysfunction
being the most common. The distribution and patterns of
thyroid disorders vary between populations.
Methodology:Retrospective data were collected from the electronic
medical records of children with Down syndrome who
attended the paediatric clinic at University Malaya Medical
Centre from the year 2000 to 2025. Data were analyzed
to determine the frequency and distribution of thyroid
disorders in this cohort.
Results:The study included 57 patients, the majority of whom were
identified through routine screening (n = 56, 98.2%). Only
one child (1.8%) was diagnosed following a symptomatic
presentation of diarrhea. Within the cohort, 51 patients
were diagnosed with hypothyroidism and six with hyperthyroidism.
Among those with hypothyroidism, the mean TSH was 22.5
mIU/L, with a median age at presentation of 61 days (IQR:
19–211.5). Notably, 25% of the cohort presented within the first 19 days, while the rest presented after 7 months of age.
Of these, 24 cases (47.1%) were transient, with medications
successfully discontinued at a mean age of 4.0 ± 2.13 years.
Only 26 patients underwent thyroid scan, which was
normal except for one case of thyroid agenesis. Imaging
was not performed in others due to early discontinuation
of therapy or loss to follow-up.
All hyperthyroid patients had autoimmune thyroid disease
(4 Graves’ disease, 2 Hashimoto’s thyroiditis) with positive
autoantibodies. The median age at presentation was 5.4
years (IQR: 2.3–10.2).
Conclusion:Screening for thyroid dysfunction successfully identified
almost all cases in patients with Down syndrome.
Notably, patients which hyperthyroidism in this cohort
had co-occurring autoimmune thyroid dysfunction and
demonstrated a significantly earlier age of presentation
compared to the general paediatric population.
- Full text:2026081008523230227EP_P004.pdf
