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  • familial hypercholesterolemia x
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Melody Lok-Yi Chan Department of Medicine, University of Hong Kong, Hong Kong SAR

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Sammy Wing-Ming Shiu Department of Medicine, University of Hong Kong, Hong Kong SAR

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Ching-Lung Cheung Department of Pharmacology and Pharmacy, University of Hong Kong, Hong Kong SAR

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Anskar Yu-Hung Leung Department of Medicine, University of Hong Kong, Hong Kong SAR

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Kathryn Choon-Beng Tan Department of Medicine, University of Hong Kong, Hong Kong SAR

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in LDL metabolism ( 5 , 6 , 7 ). A recent study in children with untreated familial hypercholesterolemia (FH) has shown that plasma concentration of IDOL was elevated and was significantly associated with total and LDL cholesterol levels ( 8

Article Type:
Research Article
Collections:
Cardiovascular
DOI:
https://doi.org/10.1530/EC-22-0019
Volume/Issue:
Volume 11: Issue 6
Open access
Debra M Gordon University of the Witwatersrand (WITS) Donald Gordon Medical Centre, Parktown, Johannesburg, South Africa

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Pablo Beckers Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Emilie Castermans Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Sebastian J C M M Neggers Department of Endocrinology, Erasmus University Medical Center, Rotterdam, The Netherlands

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Liliya Rostomyan Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Vincent Bours Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Patrick Petrossians Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Vinciane Dideberg Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Albert Beckers Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Adrian F Daly Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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activation of multiple targets of HIF1α. SDHx germline pathological variants are a major cause of familial disease, and SDHB accounts for about 10% of familial cases and has a relatively high risk of metastasis. Genetic testing regimes are in place

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-21-0560
Volume/Issue:
Volume 11: Issue 1
Open access
Trevor Lewis Physiotherapy Department, Aintree University Hospital NHS Foundation Trust, Liverpool, UK

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Eva Zeisig Department of Surgical and Perioperative Sciences, Umeå Univerisity, Umeå, Sweden

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Jamie E Gaida University of Canberra Research Institute for Sport and Exercise (UCRISE), Canberra, Australian Capital Territory, Australia

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review also identified a significant positive correlation between tendon thickness and cholesterol among healthy individuals, in two of the three studies that reported these data. In individuals with familial hypercholesterolemia, there is a strong

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-19-0555
Volume/Issue:
Volume 9: Issue 3
Open access
Catarina I Gonçalves CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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José M Aragüés Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Lisboa, Portugal

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Margarida Bastos Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Luísa Barros Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Nuno Vicente Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Davide Carvalho Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de São João e Faculdade de Medicina do Porto, Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal

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Manuel C Lemos CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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gland, and its activation induces LH and FSH secretion ( 5 ). GNRHR mutations explain about 3.5–16% of sporadic cases and up to 40% of familial cases of nCHH ( 6 ). Inheritance is autosomal recessive and patients usually have homozygous or compound

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0104
Volume/Issue:
Volume 6: Issue 6
Open access
Po-Chung Cheng Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan

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Chia-Hung Kao Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan

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concomitant prescription of antidiabetic or lipid-lowering medications, and (iv) compliance with blood tests and dietary instructions. Exclusion criteria were as follows: (i) patients with familial hypercholesterolemia, chronic kidney disease, hypothyroidism

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0209
Volume/Issue:
Volume 10: Issue 7
Open access
Paul-Martin Holterhus Department of Pediatrics I, Pediatric Endocrinology and Diabetology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian Albrechts University, CAU, Kiel, Germany

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Alexandra Kulle Department of Pediatrics I, Pediatric Endocrinology and Diabetology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian Albrechts University, CAU, Kiel, Germany

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Anne-Marie Till Department of Pediatrics, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Lübeck, Germany

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Caroline Stille Department of Pediatrics, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Lübeck, Germany

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Tabea Lamprecht Department of Pediatrics I, Pediatric Endocrinology and Diabetology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian Albrechts University, CAU, Kiel, Germany

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Simon Vieth Department of Pediatrics I, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian-Albrechts-University, CAU, Kiel, Germany

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Melchior Lauten Department of Pediatrics, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Lübeck, Germany

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. ( https://doi.org/10.1159/000488028 ) 22 Wald DS Bestwick JP Morris JK Whyte K Jenkins L & Wald NJ . Child-parent familial hypercholesterolemia screening in primary care . New England Journal of Medicine 2016 375 1628 – 1637 . ( https

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0002
Volume/Issue:
Volume 12: Issue 10
Open access
Michael C Velarde Institute of Biology, College of Science, University of the Philippines Diliman, Quezon, Metro Manila, Philippines

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Mikaela Erlinda M Bucu Department of Obstetrics and Gynecology, College of Medicine, University of the Philippines Manila, Metro Manila, Philippines

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Maria Antonia E Habana Department of Obstetrics and Gynecology, College of Medicine, University of the Philippines Manila, Metro Manila, Philippines

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, possibly through a polygenic/multifactorial inheritance ( 27 , 28 , 29 , 30 ). For example, in a larger cohort of women from Iceland, the familial clustering of endometriosis is evident even beyond first-degree relatives ( 31 ). The key genes that

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0169
Volume/Issue:
Volume 12: Issue 11
Open access
Ali Abbasi MRC Epidemiology Unit, Department of Epidemiology and Department of Internal Medicine, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Addenbrooke's Hospital, Post Box 285, Cambridge CB2 0QQ, UK
MRC Epidemiology Unit, Department of Epidemiology and Department of Internal Medicine, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Addenbrooke's Hospital, Post Box 285, Cambridge CB2 0QQ, UK

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. ( doi:10.1038/ng.520 ). 15 Besseling J Kastelein JJ Defesche JC Hutten BA Hovingh GK . Association between familial hypercholesterolemia and prevalence of type 2 diabetes mellitus . Journal of the American Medical Association 2015 313

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-15-0087
Volume/Issue:
Volume 4: Issue 4
Open access