Abstract Search

ea0037oc5.5 | Steroids, developmental and paediatric endocrinology | ECE2015

Pituitary hormone secretion profiles in IGSF1 deficiency syndrome

Joustra Sjoerd , Roelfsema Ferdinand , Endert Erik , Ballieux Bart , van Trotsenburg Paul , Fliers Eric , Corssmit Noortje , Bernard Daniel , Oostdijk Wilma , Wit Jan-Maarten , Pereira Alberto , Biermasz Nienke

Context: Loss-of-function of immunoglobulin superfamily 1 (IGSF1) causes an X-linked syndrome of central hypothyroidism, macroorchidism, and variable prolactin deficiency, GH deficiency in childhood, delayed pubertal testosterone rise, and/or obesity. The clinical features advert towards a pivotal role for IGSF1 in the pituitary gland, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.Objective: To study detailed ...

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ea0092op-06-02 | Oral Session 6: Pregnancy | ETA2023

Optimizing the dutch newborn screening for congenital hyothyroidism by using amino acids and acylcarnitines via a machine learning based approach

Jansen Heleen , van Haeringen Marije , Bouva Marelle , den Elzen Wendy , Bruinstroop Eveline , van der Ploeg Catharina , van Trotsenburg Paul , Zwaveling-Soonawala Nitash , Heijboer Annemieke , Bosch Annet , de Jonge Robert , Hoogendoorn Mark , Boelen Anita

Objectives: Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by disturbances at the thyroid level (thyroidal CH, CH-T). Less frequently, but equally important, CH can be the result of hypothalamic/pituitary dysfunction (central CH, CH-C). Most CH newborn screening (NBS) programs are based on the measurement of thyroid-stimulating hormone (TSH), thereby only detecting CH-T. The Dutch NBS detects CH by measuring total T4 concentrations in...

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ea0031oc2.1 | Steroids and thyroid | SFEBES2013

Loss-of-function mutations in IGSF1 cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Schoenmakers Nadia , Sun Yu , Bak Beata , van Trotsenburg Paul , Oostdyk Wilma , Voshol Peter , Persani Luca , Davis Timothy , le Tissier Paul , Gharavy Neda , Appelman-Dijkstra Natasha , Pereira Alberto , den Dunnen Johan , Breuning Martijn , Hennekam Raoul , Chatterjee V Krishna , Dattani Mehul , Bernard Daniel , Wit Jan-Maarten

Introduction: Congenital central hypothyroidism occurs either as isolated TSH deficiency or in conjunction with other pituitary hormone deficits. Undetected central hypothyroidism is associated with developmental delay in children and adverse cardiometabolic sequelae in adults. Hitherto, mutations in the TRH receptor (TRHR) or TSHβ subunit (TSHB) genes are the only known causes of isolated TSH deficiency.Methods: Using whole exome and candidate gene...

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ea0030oc1.8 | Oral Communications 1 | BSPED2012

Loss-of-function mutations in IGSF1 cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Schoenmakers Nadia , Bak Beata , Sun Yu , van Trotsenburg Paul , Oostdijk Wilma , Voshol Peter , Persani Luca , Davis Timothy , le Tissier Paul , Gharavy Neda , Appelman-Dijkstra Natasha , Pereira Alberto , Dunnen Johan den , Breuning Martijn , Hennekam Raoul , Chatterjee V Krishna , Dattani Mehul , Bernard Daniel , Wit Jan-Maarten

Introduction: Congenital central hypothyroidism occurs either as isolated TSH deficiency or in conjunction with other pituitary hormone deficits. Undetected central hypothyroidism is associated with developmental delay in children and adverse cardiometabolic sequelae in adults. Hitherto, mutations in the TRH receptor (TRHR) or TSHβ subunit (TSHB) genes are the only known causes of isolated TSH deficiency.Methods: Using whole exome and candidate gene...

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Endocrine Abstracts

Pituitary hormone secretion profiles in IGSF1 deficiency syndrome

Optimizing the dutch newborn screening for congenital hyothyroidism by using amino acids and acylcarnitines via a machine learning based approach

Loss-of-function mutations in IGSF1 cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Loss-of-function mutations in IGSF1 cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

BiosciAbstracts