MCT8 Deficiency in Females
Authors' conclusion
Female patients with heterozygous pathogenic variants in SLC16A2 and skewed X-chromosome inactivation may present with variable neuro(psycho)logical, behavioral, and thyroid function test abnormalities. Female patients presenting with neurocognitive impairment and abnormal TH function tests (low free thyroxine and/or high total T3 concentrations) should be tested for genetic variants in SLC16A2.
Study context
- Population
- Female patients with heterozygous pathogenic variants in SLC16A2 with variable neurocognitive impairment, behavioral problems and thyroid hormone (TH) function abnormalities; mean age 8.6 years (range 2.3–25 years)
- Participants
- 8 patients
- Outcome
- X-inactivation and MCT8-mediated TH transport
Methodological detailsX-chromosome inactivation studies, in vitro TH transport studies in transfected cells and patient-derived fibroblasts
- X-chromosome inactivation studies
- In vitro TH transport studies in transfected cells and patient-derived fibroblasts
Main finding
As reported in the abstract
Skewed X-inactivation in patient cells
all 7 evaluated individuals
MCT8-mediated T3 uptake in patient-derived fibroblasts impaired to a similar degree as in fibroblasts from male patients with MCT8 deficiency
5 out of 7 evaluated cases
Observational data: associations, not effects.
Original publication
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