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Rare Diseases Volume 1, 2013 - Issue 1

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Addendum

IGSF1 deficiency syndrome

A newly uncovered endocrinopathy

Sjoerd D. Joustra Department of Pediatrics; Leiden University Medical Center; Leiden, The Netherlands; Department of Endocrinology and Metabolic Disorders; Leiden University Medical Center; Leiden, The NetherlandsCorrespondence[email protected] [email protected] [email protected]

A. S. Paul van Trotsenburg Department of Pediatric Endocrinology; Emma Children’s Hospital; Academic Medical Center; University of Amsterdam; Amsterdam, The NetherlandsCorrespondence[email protected] [email protected] [email protected]

Yu Sun Center for Human and Clinical Genetics; Leiden University Medical Center; Leiden, The Netherlands

Monique Losekoot Center for Human and Clinical Genetics; Leiden University Medical Center; Leiden, The Netherlands

Daniel J. Bernard Department of Pharmacology and Therapeutics; McGill University; Montreal, QC Canada

Nienke R. Biermasz Department of Endocrinology and Metabolic Disorders; Leiden University Medical Center; Leiden, The Netherlands

Wilma Oostdijk Department of Pediatrics; Leiden University Medical Center; Leiden, The Netherlands

Jan M. Wit Department of Pediatrics; Leiden University Medical Center; Leiden, The NetherlandsCorrespondence[email protected] [email protected] [email protected]

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Article: e24883 | Received 14 Mar 2013, Accepted 30 Apr 2013, Published online: 02 May 2013

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https://doi.org/10.4161/rdis.24883

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Aslı Derya Kardelen, Esin Karakılıç Özturan, Şükran Poyrazoğlu, Firdevs Baş, Serdar Ceylaner, Sjoerd D. Joustra, Jan M. Wit & Feyza Darendeliler. (2023) A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care. Journal of Clinical Research in Pediatric Endocrinology 15:4, pages 431-437.
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Madhura Bharat Karguppikar, Nadia Schoenmakers, Vaman Khadilkar & Anuradha Khadilkar. (2023) Rare case of central congenital hypothyroidism due to a TSHβ mutation presenting with macro-orchidism . BMJ Case Reports 16:11, pages e252796.
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Michaela Nikolaou, Ioannis-Anargyros Vasilakis, Nikolaos M. Marinakis, Faidon-Nikolaos Tilemis, Aglaia Zellos, Evangelia Lykopoulou, Joanne Traeger-Synodinos & Christina Kanaka-Gantenbein. (2023) Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome. Hormones.
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Julia Costas Eimil & Paula Sánchez-Sobrino. (2022) Mutación de IGFS1 como causa de hipotiroidismo central aislado. Endocrinología, Diabetes y Nutrición 69:10, pages 913-914.
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Agnieszka Malcher, Tomasz Stokowy, Andrea Berman, Marta Olszewska, Piotr Jedrzejczak, Dawid Sielski, Adam Nowakowski, Natalia Rozwadowska, Alexander N. Yatsenko & Maciej K. Kurpisz. (2022) Whole‐genome sequencing identifies new candidate genes for nonobstructive azoospermia. Andrology 10:8, pages 1605-1624.
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Emilie Brûlé, Tanya L Silander, Ying Wang, Xiang Zhou, Beata Bak, Stefan Groeneweg & Daniel J Bernard. (2022) IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice. Endocrinology 163:8.
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Courtney L. Smith, Paul M. Harrison & Daniel J. Bernard. (2022) The extant immunoglobulin superfamily, member 1 gene results from an ancestral gene duplication in eutherian mammals. PLOS ONE 17:6, pages e0267744.
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Melitza S. M. Elizabeth, Anita Hokken-Koelega, Jenny A. Visser, Sjoerd D. Joustra & Laura C. G. de Graaff. (2022) Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations. Genes 13:4, pages 623.
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Pedro Marques & Márta Korbonits. 2022. The Pituitary. The Pituitary 385 412 .

Manuela Cerbone, Harshini Katugampola & Mehul T. Dattani. 2020. Maternal-Fetal and Neonatal Endocrinology. Maternal-Fetal and Neonatal Endocrinology 709 734 .

Daniel J. Bernard & Emilie Brûlé. 2020. Hormonal Signaling in Biology and Medicine. Hormonal Signaling in Biology and Medicine 119 144 .

Daniel J Bernard, Emilie Brûlé, Courtney L Smith, Sjoerd D Joustra & Jan M Wit. (2018) From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function. Journal of the Endocrine Society 2:3, pages 220-231.
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Ying Wang, Emilie Brûlé, Tanya Silander, Beata Bak, Sjoerd D. Joustra & Daniel J. Bernard. (2017) The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein. PLOS ONE 12:7, pages e0180731.
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Marc-Olivier Turgeon, Tanya L. Silander, Denica Doycheva, Xiao-Hui Liao, Marc Rigden, Luisina Ongaro, Xiang Zhou, Sjoerd D. Joustra, Jan M. Wit, Mike G. Wade, Heike Heuer, Samuel Refetoff & Daniel J. Bernard. (2017) TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice. Endocrinology 158:4, pages 815-830.
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Jocelyn Plassais, Maud Rimbault, Falina J. Williams, Brian W. Davis, Jeffrey J. Schoenebeck & Elaine A. Ostrander. (2017) Analysis of large versus small dogs reveals three genes on the canine X chromosome associated with body weight, muscling and back fat thickness. PLOS Genetics 13:3, pages e1006661.
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Débora Braslavsky, Maria Virginia Méndez, Laura Prieto, Ana Keselman, Rosa Enacan, Laura Gruñeiro-Papendieck, Nicolas Jullien, Alexandru Savenau, Rachel Reynaud, Thierry Brue, Ignacio Bergadá & Ana Chiesa. (2017) Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection. Hormone Research in Paediatrics 88:3-4, pages 274-280.
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Yardena Tenenbaum-RakoverMarc-Olivier TurgeonShira LondonPia HermannsJoachim PohlenzDaniel J. BernardDani Bercovich. (2016) Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation . Thyroid 26:12, pages 1693-1700.
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Gunnar Kleinau, Laura Kalveram, Josef Köhrle, Mariusz Szkudlinski, Lutz Schomburg, Heike Biebermann & Annette Grüters-Kieslich. (2016) Minireview: Insights Into the Structural and Molecular Consequences of the TSH-β Mutation C105Vfs114X. Molecular Endocrinology 30:9, pages 954-964.
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Jessica J. Hayward, Marta G. Castelhano, Kyle C. Oliveira, Elizabeth Corey, Cheryl Balkman, Tara L. Baxter, Margret L. Casal, Sharon A. Center, Meiying Fang, Susan J. Garrison, Sara E. Kalla, Pavel Korniliev, Michael I. Kotlikoff, N. S. Moise, Laura M. Shannon, Kenneth W. Simpson, Nathan B. Sutter, Rory J. Todhunter & Adam R. Boyko. (2016) Complex disease and phenotype mapping in the domestic dog. Nature Communications 7:1.
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Nadia Schoenmakers, Kyriaki S Alatzoglou, V Krishna Chatterjee & Mehul T Dattani. (2015) Recent advances in central congenital hypothyroidism. Journal of Endocrinology 227:3, pages R51-R71.
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Christiaan de Bruin & Andrew Dauber. (2015) Insights from exome sequencing for endocrine disorders. Nature Reviews Endocrinology 11:8, pages 455-464.
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IGSF1 deficiency syndrome

A newly uncovered endocrinopathy

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IGSF1 deficiency syndrome

A newly uncovered endocrinopathy

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