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ea0051oc5.8 | Oral Communications 5 | BSPED2017

Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus

van Walree Eva , Park Soo-Mi , Bochukova Elena , Nicholas Adeline K , Lyons Greta , Chatterjee V Krishna , Schoenmakers Nadia

Introduction: Isolated congenital central hypothyroidism (CeCH) is a rare entity associated with mutations in IGSF1, TSHB, TRHR, or the coding region of TBL1X. We describe a female with CeCH and extrathyroidal features due to a partial X-chromosomal deletion involving TBL1X and other genes. Further studies showed markedly reduced TBL1X expression in patient-derived leukocytes and enabled linkage of particular clinical phenotypes to ...

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ea0051oc2.1 | Oral Communications 2 | BSPED2017

Discordant TSH measurements in an euthyroid child due to a homozygous TSHbeta subunit gene variant with variable immunoreactivity

van Walree Eva , Hendriks A Emile J , Moran Carla , Nicholas Adeline K , Lyons Greta , McGowan Anne , Halsall David , Oddy Sue , Chatterjee V Krishna , Schoenmakers Nadia

Introduction: Thyroid function tests are frequently undertaken in children with non-specific symptoms suggestive of thyroid dysfunction. Infrequently, susceptibility of automated thyroid hormone assays to interference may generate misleading results, with the potential for inappropriate diagnosis and management. We report an unusual case with apparent subclinical hyperthyroidism, due to negative interference in particular TSH assay platforms, with an underlying genetic basis.<...

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Endocrine Abstracts

Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus

Discordant TSH measurements in an euthyroid child due to a homozygous TSHbeta subunit gene variant with variable immunoreactivity

BiosciAbstracts