Genetic Analyses in a Cohort of Pediatric Patients with Congenital Hypothyroidism Based on Congenital Hypothyroidism Consensus Guideline
Authors' conclusion
In the current investigation, rare new variations in genes known to be related to CH were discovered, adding to the molecular genetic spectrum. When we compare the overall variant detection frequency, the selection criterion for genetic analysis based on the current guidelines is quite rational, considering the benefits and costs, on the other hand, present in new genes awaiting discovery. Also, TSHR mutations are likely to be common and may account for more than 5% of thyroid dysgenesis cases if we include nonfamilial thyroid dysgenesis.
Study context
- Population
- Turkish pediatric patients with congenital hypothyroidism (CH) whose genetic analysis met the Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update criteria45 families
- Participants
- 61 patients
- Outcome
- Variant detection frequency
Methodological detailsnext-generation sequencing panel
- Next-generation sequencing panel
Main finding
As reported in the abstract
- Overall frequency of variant detection
- 37.7%
- Families with a positive mutation
- 17 of 45
- TPO gene variants (most frequent)
- 10 families
- TSHR gene variants
- 7 families
- DUOX2 gene variants
- 5 families
- TG and NKX2-1 gene variants
- 2 families each
- Novel variants
- 6
Observational data: associations, not effects.
Further findings
NKX2-1 cases phenotype
- One NKX2-1 case had thyroid involvement only, the other chorea only
Mutation-positive vs mutation-negative cases
- No differences in gender, neonatal/perinatal parameters, initial thyroid function values and thyroid morphology
Original publication
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