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3.10. Mutations in IRS4 are associated with central hypothyroidism

CA Heinen , EM de Vries , M Alders , H Bikker , N Zwaveling-Soonawala , Akker ELT van den , B Bakker , G Hoorweg-Nijman , F Roelfsema , RC Hennekam , A Boelen , Trotsenburg ASP van , E Fliers

To read the full abstract: J Med Genet. 2018;55:693700.This genetic study identified, by whole exome sequencing, mutations in the insulin receptor substrate 4 gene (IRS4) in 5 families with isolated central congenital hypothyroidism. Thus, the authors add a fifth genetic cause of isolated congenital hypothyroidism to the previously known genes: TSHB, TRHR, IGSF1, ...

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ey0017.4-12 | New paradigms | ESPEYB17

4.12. IGSF1 Deficiency results in human and murine somatotrope neurosecretory hyperfunction

SD Joustra , F Roelfsema , ASP van Trotsenburg , HJ Schneider , RP Kosilek , HM Kroon , JG Logan , NC Butterfield , X Zhou , C Toufaily , B Bak , MO Turgeon , E Brule , FJ Steyn , M Gurnell , O Koulouri , P Le Tissier , P Fontanaud , JHD Bassett , GR Williams , W Oostdijk , JM Wit , AM Pereira , NR Biermasz , DJ Bernard , N Schoenmakers

To read the full abstract: J Clin Endocrinol Metab, March 2020, 105(3):e70e84A cohort of 21 adult males (aged 19 to 89 years) harboring hemizygous pathogenic IGSF1 gene mutations underwent anthropometry, endocrine testing, testis ultrasonography, and body composition assessment to define the pathophysiological role of IGSF1 in influencing GH secretion. In addition, two lines of Igsf1 -deficient male mice were use...

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ESPE Yearbook of Paediatric Endocrinology

3.10. Mutations in IRS4 are associated with central hypothyroidism

4.12. IGSF1 Deficiency results in human and murine somatotrope neurosecretory hyperfunction

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