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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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ea0028oc1.5 | Young Endocrinologists prize session | SFEBES2012

Growth Retardation and Severe Constipation due to the first human, dominant negative Thyroid Hormone Receptor Alpha mutation

Schoenmakers Nadia , Bochukova Elena , Agostini Maura , Schoenmakers Erik , Rajanayagam Odelia , Keogh Julia , Henning Elana , Reinemund Jana , Gevers Evelien , Sarri Margarita , Downes Kate , Offiah Amaka , Albanese Assunta , Halsall David , Schwabe John , Bain Murray , Lindley Keith , Muntoni Francesco , Vargha-Khadem Faraneh , Dattani Mehul , Farooqi Sadaf , Gurnell Mark , Chatterjee Krishna

Introduction: Thyroid hormones act via receptors encoded by different genes (THRA and THRB) generating receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. Resistance to Thyroid Hormone due to THRB defects is well recognised, but no THRA mutations have yet been reported. We describe the first case of human TRα-mediated thyroid hormone resistance due to a dominant negative THRA mutation.Results: A 6-year-old...

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ea0027oc1.4 | Oral Communications 1 | BSPED2011

Growth retardation and severe constipation due to the first human, dominant negative thyroid hormone receptor α mutation

Schoenmakers Nadia , Bochukova Elena , Agostini Maura , Schoenmakers Erik , Rajanayagam Odelia , Henning Elana , Gevers Evelien , Sarri Margarita , Offiah Amaka , Albanese Assunta , Halsall David , Schwabe John , Bain Murray , Lindley Keith , Muntoni Francesco , Vargha-Khadem Faraneh , Dattani Mehul , Farooqi Sadaf , Gurnell Mark , Chatterjee Krishna

Introduction: Thyroid hormones act via receptors encoded by different genes (THRA and THRB) generating receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. Resistance to thyroid hormone due to THRB defects is well recognised, but no THRA mutations have yet been reported. We describe the first case of human TRα-mediated thyroid hormone resistance due to a dominant negative THRA mutation.<p cl...

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Endocrine Abstracts

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

Growth Retardation and Severe Constipation due to the first human, dominant negative Thyroid Hormone Receptor Alpha mutation

Growth retardation and severe constipation due to the first human, dominant negative thyroid hormone receptor α mutation

BiosciAbstracts