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Sakina Kherra CHU Parnet Hopital, Algiers, Algeria

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Wendy Forsyth Paterson Royal Hospital for Sick Children, Yorkhill, Glasgow, UK

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Filiz Mine Cizmecioglu Paediatric Endocrinology and Diabetes Department, Kocaeli University, Kocaeli, Turkey

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Jeremy Huw Jones Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Mariam Kourime Abderrahim Harouchi Hôpital, Casablanca, Morocco

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Heba Hassan Elsedfy Pediatrics Department, Ain Shams University, Cairo, Egypt

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Sameh Tawfik Department of Pediatrics, Maadi Hospital, Cairo, Egypt

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Andreas Kyriakou Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Mohamad Guftar Shaikh Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Malcolm David Cairns Donaldson Section of Child Health, Glasgow University School of Medicine, Glasgow, UK

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morbid obesity and the fear of sex steroid replacement exacerbating existing behavioural problems. Regarding the concern over obesity, our study shows the significant mortality in PWS and that, consistent with data from France ( 29 ) and the United

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Luca Persani Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Biagio Cangiano Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Marco Bonomi Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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alterations. Importantly, in MPHDs other major confounders must be taken into account. Both estrogens and GH influence thyroid hormone transport and/or metabolism and consequently interfere CeH management ( 33 , 60 ). Sex steroid and GH deficiencies can

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Qiu-ming Yao Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China

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Bin Wang Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China

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Xiao-fei An Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China

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Jin-an Zhang Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, China

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Liumei Ding Department of Clinical Laboratory, Jinshan Hospital of Fudan University, Shanghai, China

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. However, other studies suggest that T2DM is a risk factor for testosterone deficiency and impaired sex steroid status ( 73 ). One large prospective study showed that the development of T2DM is a major driver of the age-related testosterone decline ( 74

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Yijun Tang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yao Chen Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jiayi Wang Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Qianwen Zhang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yirou Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yufei Xu Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xin Li Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jian Wang International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xiumin Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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variants. The verification test results showed that 21.79% variants (17/78) were found to be de novo mutations. In primary gonadal/genital disorders subjects ( n  = 48), SRD5A2 (steroid 5-alpha-reductase 2) and AR (androgen receptor) were the most

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Earn H Gan Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
Endocrine Unit, Royal Victoria Infirmary, Newcastle upon Tyne, UK

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Wendy Robson Urology Unit, Freeman Hospital, Newcastle upon Tyne, UK

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Peter Murphy Urology Unit, Freeman Hospital, Newcastle upon Tyne, UK

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Robert Pickard Urology Unit, Freeman Hospital, Newcastle upon Tyne, UK
Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK

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Simon Pearce Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK
Endocrine Unit, Royal Victoria Infirmary, Newcastle upon Tyne, UK

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Rachel Oldershaw Department of Musculoskeletal Biology, Institute of Ageing and Chronic disease, University of Liverpool, Liverpool, UK

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-type. In recent years, a few studies have demonstrated that adenovirus-mediated forced expression of SF1 could transform rodent and human adipose tissue or bone marrow-derived MSCs into steroidogenic cells, with the ability to produce multiple steroid

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Anna Olsson-Brown Department of Molecular and Clinical Pharmacology, University of Liverpool, Liverpool, UK
The Clatterbridge Cancer Centre, Wirral, UK

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Rosemary Lord The Clatterbridge Cancer Centre, Wirral, UK

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Joseph Sacco The Clatterbridge Cancer Centre, Wirral, UK
Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, UK

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Jonathan Wagg Roche Innovation Center, Basel, Switzerland

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Mark Coles Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK

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Munir Pirmohamed Department of Molecular and Clinical Pharmacology, University of Liverpool, Liverpool, UK

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Introduction

Immune checkpoint inhibitors can lead to thyroid dysfunction. However, the understanding of the clinical phenotype of ICI-induced thyroid dysfunction in the real-world population is limited. The purpose of this study was to characterise the clinical patterns of dysfunction and evaluate the demographic, biochemical and immunological features associated with this patient cohort.

Materials and methods

To characterise the longitudinal clinical course of thyroid dysfunction in patients from a single, UK regional cancer centre, a retrospective review of patients was conducted. Inclusion criteria included all patients treated with antiPD-1 checkpoint inhibitors (ICI), either as monotherapy (pembrolizumab/nivolumab) or in combination with a CTLA-4 inhibitor (ipilimumab). Patterns of toxicity were evaluated together with assessment of antibody titres.

Results

Over 16 months, thyroid dysfunction was seen in 13/90 and 3/13 patients treated with anti-PD1 monotherapy and in combination with ipilimumab, respectively. Patients either developed hyperthyroidism followed by hypothyroidism (12/16) or de novo hypothyroidism (4/16). Most patients were female (n = 11). All patients required thyroid replacement therapy. There was no relationship between clinical pattern of dysfunction and the presence of thyroid autoantibodies.

Conclusions

There are two distinct patterns of thyroid dysfunction in ICI-treated patients. Patients with thyroiditis develop subsequent hypothyroidism in the vast majority of cases. The potential benefit from steroids or other therapy to manage the hyperthyroid phase remains unclear. Early detection of these patients through appropriate monitoring will improve clinical management and early hormone replacement, reducing the symptomatic burden of hypothyroidism.

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Nishchil Patel N Patel, Endocrinology and Diabetes, University Hospitals Plymouth NHS Trust, Plymouth, PL6 8DH, United Kingdom of Great Britain and Northern Ireland

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Kagabo Hirwa K Hirwa, Department of Endocrinology, University Hospitals Plymouth NHS Trust, Plymouth, United Kingdom of Great Britain and Northern Ireland

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Gemma Gardner G Gardner, Endocrinology and Diabetes, University Hospitals Plymouth NHS Trust, Plymouth, United Kingdom of Great Britain and Northern Ireland

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Kirsten Pearce K Pearce, Department of Neuroradiology, University Hospitals Plymouth NHS Trust, Plymouth, United Kingdom of Great Britain and Northern Ireland

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Jinny Jeffery J Jeffery, Department of Biochemistry, University Hospitals Plymouth NHS Trust, Plymouth, United Kingdom of Great Britain and Northern Ireland

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Fizzah Iqbal F Iqbal, Morriston Hospital, Swansea, United Kingdom of Great Britain and Northern Ireland

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Daniel Flanagan D Flanagan, Department of Endocrinology, University Hospitals Plymouth NHS Trust, Plymouth, United Kingdom of Great Britain and Northern Ireland

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Aim: To define functional and anatomical pituitary disease following ICI therapy and describe any change in pituitary function with time.

Methods: Retrospective observational audit of patients on ICI therapy in our centre between 2013 and 2023. We reviewed all patients on ICI therapy under the oncology department at University Hospital Plymouth, and identified individuals referred to endocrinology with suspected adrenal insufficiency. Patients were established on adrenal steroid replacement and subsequently underwent formal pituitary testing. Pituitary disease was evidenced by low ACTH, other pituitary dysfunction and/or abnormalities on pituitary imaging.

Results: 954 patients received ICI therapy during the study period, and 37 developed HPA axis dysfunction. Median interval of onset of symptoms was 4 months. There was no recovery in cortisol or ACTH for any individual on repeated testing. Other permanent anterior pituitary hormone defects were unusual. Hypophysitis associated with immunotherapy appears to specifically target corticotrophs with no evidence of recovery. There was a specific abnormality seen in MRI scans of 7 of 27 patients who had scans, appearing to be a particular feature of immune mediated hypophysitis. These were confined to the anterior aspect of the pituitary as striations and were not visible on any scans performed more than three months after disease onset.

Conclusion: These data show that immune related (IR) hypophysitis is a common complication of immune checkpoint inhibitor therapy. This may result in an imaging abnormality within the areas of the pituitary richest in corticotrophs. The endocrine consequence of this is a permanent defect in ACTH and therefore cortisol production.

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Bruno Donadille Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Muriel Houang Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Irène Netchine Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France

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Jean-Pierre Siffroi Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Sophie Christin-Maitre Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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isoenzyme 3b-HSD2 is an essential step for the biosynthesis of all steroids. Therefore, it plays a crucial role in aldosterone, cortisol and sex hormones production ( Fig. 1 ). Phenotypes encompass a continuum from mild-to-severe enzymatic deficiency. In the

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Stephanie E Baldeweg Department of Endocrinology, University College Hospital, London, UK
National Hospital for Neurology and Neurosurgery, London, UK

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Mark Vanderpump Physicians’ Clinic, London, UK

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Will Drake Department of Endocrinology, St Bartholomew’s Hospital, London, UK

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Narendra Reddy Endocrinology/General Medicine, University Hospitals Coventry and Warwickshire NHS Trust, University of Warwick, Coventry, UK

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Andrew Markey The Lister Hospital, London, UK

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Gordon T Plant Department of Endocrinology, University College Hospital, London, UK
National Hospital for Neurology and Neurosurgery, London, UK

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Michael Powell National Hospital for Neurology and Neurosurgery, London, UK

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Saurabh Sinha Royal Hallamshire Hospital, Sheffield, UK

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John Wass Department of Endocrinology, Oxford Centre for Diabetes Endocrinology and Metabolism, The Churchill, Oxford University, Oxford, UK

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the Society for Endocrinology Clinical Committee The Society for Endocrinology, 22 Apex Court, Woodlands, Bradley Stoke, Bristol, UK

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function tests, clotting profile Indications for empirical steroid therapy in patients with pituitary apoplexy are haemodynamic instability, altered consciousness level, reduced visual acuity and severe visual field defects. Steroid replacement is

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Fiona Broughton Pipkin Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Hiten D Mistry Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Chandrima Roy Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Bernhard Dick Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Jason Waugh Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Rebecca Chikhi Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Lesia O Kurlak Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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Markus G Mohaupt Department of Obstetrics and Gynaecology, Department of Nephrology, Leicester Royal Infirmary, School of Medicine, University of Nottingham, Nottingham, NG5 1PB, UK

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feedback control of glucocorticoid maintenance and an association with metabolic syndrome (10, 11) . Little is known about steroid hormone availability and metabolism during the early postpartum period in infants. Fetal exposure to maternal cortisol is

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