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Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance

Marcus Heldmann

Marcus Heldmann Department of Neurology, University of Lübeck, Lübeck, Germany
Department of Psychology II, University of Lübeck, Lübeck, Germany

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Krishna Chatterjee

Krishna Chatterjee Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK

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Carla Moran

Carla Moran Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK

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Berenike Rogge

Berenike Rogge Department of Neurology, University of Lübeck, Lübeck, Germany

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Julia Steinhardt

Julia Steinhardt Department of Neurology, University of Lübeck, Lübeck, Germany

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Tobias Wagner-Altendorf

Tobias Wagner-Altendorf Department of Neurology, University of Lübeck, Lübeck, Germany

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Martin Göttlich

Martin Göttlich Department of Neurology, University of Lübeck, Lübeck, Germany

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Hannes Schacht

Hannes Schacht Department of Neuroradiology, University of Lübeck, Lübeck, Germany

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Peter Schramm

Peter Schramm Department of Neuroradiology, University of Lübeck, Lübeck, Germany

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Georg Brabant

Georg Brabant Department of Internal Medicine I, University of Lübeck, Lübeck, Germany
Department of Endocrinology, The Christie, University of Manchester, Manchester, UK

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Thomas F Münte

Thomas F Münte Department of Neurology, University of Lübeck, Lübeck, Germany
Department of Psychology II, University of Lübeck, Lübeck, Germany

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Anna Cirkel

Anna Cirkel Department of Neurology, University of Lübeck, Lübeck, Germany

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controls. Independent t -test stated. No difference in educational degree and sex was noted, since exact matching was performed (38.1% O-level, 61.9% A-level, 10/19 (52.6%) females for both groups). Patients Controls Significance Mean

Article Type:: Research Article

Collections:: Pituitary and Hypothalamus

DOI:: https://doi.org/10.1530/EC-21-0473

Volume/Issue:: Volume 11: Issue 1

Open access

Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene

Lukas Plachy

Lukas Plachy Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Petra Dusatkova

Petra Dusatkova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Klara Maratova

Klara Maratova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Shenali Anne Amaratunga

Shenali Anne Amaratunga Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Dana Zemkova

Dana Zemkova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Vit Neuman

Vit Neuman Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Stanislava Kolouskova

Stanislava Kolouskova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Barbora Obermannova

Barbora Obermannova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Marta Snajderova

Marta Snajderova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Zdenek Sumnik

Zdenek Sumnik Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Jan Lebl

Jan Lebl Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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Stepanka Pruhova

Stepanka Pruhova Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu, Prague, Czech Republic

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, neonatal hypoglycaemia 1.5 −2.7 −2.8 −2.4 −2.9 BDL, below detection limit; CAI, central adrenal insufficiency; CHT, central hypothyroidism; F, female; GH, growth hormone; HH, hypogonadotropic hypogonadism; M, male; MRI, magnetic

Article Type:: Research Article

Collections:: Pituitary and Hypothalamus

DOI:: https://doi.org/10.1530/EC-24-0217

Volume/Issue:: Volume 13: Issue 10

Open access

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature

Alessandro Barbato

Alessandro Barbato Auxo-endocrinology Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Department of Health Sciences, University of Florence, Florence, Italy

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Giulia Gori

Giulia Gori Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Michele Sacchini

Michele Sacchini Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Francesca Pochiero

Francesca Pochiero Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Sara Bargiacchi

Sara Bargiacchi Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Giovanna Traficante

Giovanna Traficante Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Viviana Palazzo

Viviana Palazzo Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Lucia Tiberi

Lucia Tiberi Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy

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Claudia Bianchini

Claudia Bianchini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Davide Mei

Davide Mei Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Elena Parrini

Elena Parrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Tiziana Pisano

Tiziana Pisano Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy

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Elena Procopio

Elena Procopio Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy

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Renzo Guerrini

Renzo Guerrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Meyer Children’s Hospital IRCCS, Florence, Italy
NEUROFARBA Department, University of Florence, Florence, Italy

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Angela Peron

Angela Peron Medical Genetics Unit, Meyer Children’s Hospital IRCCS, Florence, Italy
Department of Clinical and Experimental Biomedical Sciences “Mario Serio”, University of Florence, Florence, Italy

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Stefano Stagi

Stefano Stagi Auxo-endocrinology Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Department of Health Sciences, University of Florence, Florence, Italy

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. We suggest periodically assessing pituitary function in MC4DN4-affected individuals. The choice of sermorelin combined with arginine to assess GH secretion in the female patient was driven by the need to rule out the involvement of hypothalamic