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Rare endocrinological diseases

The aim of this section is to provide timely access to research on rare inherited endocrine disorders encountered in children and adults. These include congenital disorders (e.g., Congenital adrenal hyperplasia), cancer syndromes (e.g., the multiple endocrine neoplasia syndromes), and endocrine manifestations that stem from inherited metabolic diseases (which are especially likely to be associated with diabetes mellitus, hypogonadism, and adrenal, pituitary, and thyroid dysfunction). We welcome papers describing innovative clinical and basic research on all uncommon endocrine disorders, descriptions of newly defined clinical entities, studies that shed light on gene dysfunction, and reports describing therapeutic management (outcomes, novel strategies, and cost-efficiency analyses).

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  1. A virilizing ovarian tumor (VOT) is a rare cause of hyperandrogenism in pre- and postmenopausal women. Although transvaginal ultrasound is considered as the first-line imaging method for ovarian tumors, it is ...

    Authors: Mi Zou, Rong Chen, Yahong Wang, Yonglan He, Ying Wang, Yifan Dong and Jianchu Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:426

    Content type: Research

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  2. Hyperinsulinemic hypoglycemia (HI) is the most frequent cause of recurrent hypoglycemia in children. Despite diagnostic and therapeutic advances, it remains an important cause of morbidity, leading to neurolog...

    Authors: Arianna Maiorana, Stefania Caviglia, Benedetta Greco, Paolo Alfieri, Francesca Cumbo, Carmen Campana, Silvia Maria Bernabei, Raffaella Cusmai, Antonella Mosca and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2021 16:424

    Content type: Research

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  3. Hypoparathyroidism (HypoPT) or pseudo-hypoparathyroidism (pseudo-HypoPT) during pregnancy may cause maternal and fetal/neonatal complications. In this regard, only a few case reports or case series of pregnant...

    Authors: Gemma Marcucci, Paola Altieri, Salvatore Benvenga, Marta Bondanelli, Valentina Camozzi, Filomena Cetani, Luisella Cianferotti, Mirko Duradoni, Caterina Fossi, Ettore degli Uberti, Fausto Famà, Giovanna Mantovani, Claudio Marcocci, Laura Masi, Uberto Pagotto, Andrea Palermo…

    Citation: Orphanet Journal of Rare Diseases 2021 16:421

    Content type: Research

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  4. 46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is th...

    Authors: Liping Hou, Ming Zhao, Lijun Fan, Bingyan Cao, Jiajia Chen, Yonghua Cui, Michel Polak and Chunxiu Gong

    Citation: Orphanet Journal of Rare Diseases 2021 16:416

    Content type: Research

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  5. Hereditary Angioedema (HAE) is a genetic disorder that leads to frequent angioedema attacks in various parts of the body. In most cases it is caused by pathogenic variants in the SERPING1 gene, coding for C1-Inhi...

    Authors: Toni M. Förster, Markus Magerl, Marcus Maurer, Selen Zülbahar, Susanne Zielke, Neil Inhaber, Donatello Crocetta, Arndt Rolfs and Volha Skrahina

    Citation: Orphanet Journal of Rare Diseases 2021 16:399

    Content type: Research

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  6. The clinical complications of congenital hypothyroidism such as brain disorders are very subtle and are not recognizable in infancy period. They are recognizable when it is too late for treatment or prevention...

    Authors: Javad Nazari, Kimia Jafari, Maryam Chegini, Akram Maleki, Pari MirShafiei, Ali Alimohammadi, Yasan Kazemzadeh, Reihaneh Mikaeliyan and Saeed Amini

    Citation: Orphanet Journal of Rare Diseases 2021 16:393

    Content type: Research

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  7. To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chines...

    Authors: Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie and Xueyan Wu

    Citation: Orphanet Journal of Rare Diseases 2021 16:370

    Content type: Research

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  8. Patients with Prader-Willi syndrome (PWS) often have comorbidities, especially obesity, that may constitute a risk factor for severe forms of COVID-19. We aimed to assess prevalence and medical course of SARS-...

    Authors: Muriel Coupaye, Virginie Laurier, Grégoire Benvegnu, Christine Poitou, Pauline Faucher, Héléna Mosbah, Gwenaelle Diene, Graziella Pinto, Laura González Briceño, Christine Merrien, Ana Camarena Toyos, Emilie Montastier, Maithé Tauber and Fabien Mourre

    Citation: Orphanet Journal of Rare Diseases 2021 16:325

    Content type: Research

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  9. Adolescents with idiopathic scoliosis display high ghrelin levels. As hyperghrelinemia is found in patients with PWS and early-onset scoliosis (EOS) is highly prevalent in these patients, our aims were to expl...

    Authors: Dibia Liz Pacoricona Alfaro, Gwenaelle Diene, Graziella Pinto, Jean-Pierre Salles, Isabelle Gennero, Sandy Faye, Catherine Molinas, Marion Valette, Catherine Arnaud and Maithé Tauber

    Citation: Orphanet Journal of Rare Diseases 2021 16:305

    Content type: Research

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  10. Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causin...

    Authors: Gilyazetdinov Kamil, Ju Young Yoon, Sukdong Yoo and Chong Kun Cheon

    Citation: Orphanet Journal of Rare Diseases 2021 16:297

    Content type: Research

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  11. Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and ...

    Authors: Ya-Bing Wang, Ou Wang, Min Nie, Yan Jiang, Mei Li, Wei-Bo Xia and Xiao-Ping Xing

    Citation: Orphanet Journal of Rare Diseases 2021 16:296

    Content type: Research

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  12. Dozens of genes are involved in 46, XY differences in sex development (DSD). Notably, about 3/4 of patients cannot make a clear etiology diagnosis and single gene variant identified cannot fully explain the cl...

    Authors: Yiping Cheng, Jing Chen, Xinli Zhou, Jiangfei Yang, Yiming Ji and Chao Xu

    Citation: Orphanet Journal of Rare Diseases 2021 16:268

    Content type: Research

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  13. Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction leading to obesity and behavioral disabilities, including eating disorders (EDs). We evaluated the effects of the COVI...

    Authors: Helena Mosbah, Muriel Coupaye, Flavien Jacques, Maithé Tauber, Karine Clément, Jean-Michel Oppert and Christine Poitou

    Citation: Orphanet Journal of Rare Diseases 2021 16:202

    Content type: Research

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  14. The spectrum of disorders associated with hyperinsulinemic hypoglycemia (HHI) has vastly increased over the past 20 years with identification of molecular, metabolic and cellular pathways involved in the regul...

    Authors: Swathi Sethuram, Mark A. Sperling, Jasmine Gujral and Christopher J. Romero

    Citation: Orphanet Journal of Rare Diseases 2021 16:190

    Content type: Research

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  15. Idiopathic Ketotic hypoglycemia (IKH) is a diagnosis of exclusion. Although considered as the most frequent cause of hypoglycemia in childhood, little progress has been made to advance the understanding of IKH...

    Authors: Danielle Drachmann, Erica Hoffmann, Austin Carrigg, Beccie Davis-Yates, Valerie Weaver, Paul Thornton, David A. Weinstein, Jacob S. Petersen, Pratik Shah and Henrik Thybo Christesen

    Citation: Orphanet Journal of Rare Diseases 2021 16:173

    Content type: Review

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  16. Hypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes. Few studies were carried...

    Authors: Meijuan Liu, Min Liu, Xuejun Liang, Di Wu, Wenjing Li, Chang Su, Bingyan Cao, Jiajia Chen and Chunxiu Gong

    Citation: Orphanet Journal of Rare Diseases 2021 16:159

    Content type: Research

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  17. Androgen insensitive syndrome (AIS) is a rare genetic disease resulting from androgen receptor (AR) mutations and one of the causes of 46, XY disorder of sexual development (DSD). This study aimed to describe the...

    Authors: Hui Zhu, Haijun Yao, Yue Xu, Yan Chen, Bing Han, Nan Wang, Hao Wang, Qiang Zhang, Wenjiao Zhu, Yuanping Shi, Hua Sun, Shuangxia Zhao, Huaidong Song, Yang Liu and Jie Qiao

    Citation: Orphanet Journal of Rare Diseases 2021 16:122

    Content type: Research

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  18. Enzyme replacement therapy (ERT) with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is being developed to treat patients with ASM deficiency (ASMD), commonly known as Niemann–Pick disease ...

    Authors: Bethanie Garside, Jan Hoong Ho, See Kwok, Yifen Liu, Shaishav Dhage, Rachelle Donn, Zohaib Iqbal, Simon A. Jones and Handrean Soran

    Citation: Orphanet Journal of Rare Diseases 2021 16:107

    Content type: Research

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  19. Prader-Willi syndrome (PWS) is a complex, multi-system, neurodevelopmental disorder characterised by neonatal muscular hypotonia, short stature, high risk of obesity, hypogonadism, intellectual disabilities, d...

    Authors: Charlotte Höybye, Anthony J. Holland and Daniel J. Driscoll

    Citation: Orphanet Journal of Rare Diseases 2021 16:69

    Content type: Letter to the Editor

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  20. MEN1 is a complex, rare, syndrome inherited in an autosomal dominant tract and characterized by the development of multiple neuroendocrine tumors, requiring lifelong surveillance and multiple medical and surgi...

    Authors: Francesca Giusti, Federica Cioppi, Caterina Fossi, Francesca Marini, Laura Masi, Francesco Tonelli and Maria Luisa Brandi

    Citation: Orphanet Journal of Rare Diseases 2021 16:16

    Content type: Research

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  21. The relevant role of long non-coding RNAs (lncRNAs) in cancer is currently a matter of increasing interest. Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor (2–5% of all thyroid cancer) derived fr...

    Authors: Berta Luzón-Toro, Leticia Villalba-Benito, Raquel María Fernández, Ana Torroglosa, Guillermo Antiñolo and Salud Borrego

    Citation: Orphanet Journal of Rare Diseases 2021 16:4

    Content type: Letter to the Editor

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  22. Prader-Willi-Syndrome (PWS) is characterized by hypothalamic-pituitary dysfunction. Recent research suggests starting growth hormone-treatment (GHT) as soon as possible. The aim of this study is to analyze pos...

    Authors: Lucy Magill, Constanze Laemmer, Joachim Woelfle, Rolf Fimmers and Bettina Gohlke

    Citation: Orphanet Journal of Rare Diseases 2020 15:283

    Content type: Research

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  23. Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder in which hyperphagia (excessive appetite) is a hallmark feature. Understanding how weight changes over time in this population is important for...

    Authors: Caroline J. Vrana-Diaz, Priya Balasubramanian, Nathalie Kayadjanian, Jessica Bohonowych and Theresa V. Strong

    Citation: Orphanet Journal of Rare Diseases 2020 15:233

    Content type: Research

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  24. In children with Prader-Willi syndrome (PWS), the benefits of growth hormone treatment are well established. Several one-year studies have shown that growth hormone is also beneficial for adults with PWS, impr...

    Authors: Layla Damen, Stephany H. Donze, Renske J. Kuppens, Nienke E. Bakker, Laura C. G. de Graaff, Janielle A. E. M. van der Velden and Anita C. S. Hokken-Koelega

    Citation: Orphanet Journal of Rare Diseases 2020 15:163

    Content type: Research

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  25. Hypoglycaemia due to hyperinsulinism (HI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Cohort outcomes of HI remain to be described and whilst previous follow up studies have focused...

    Authors: Chris Worth, Laila Al Hashmi, Daphne Yau, Maria Salomon-Estebanez, Diego Perez Ruiz, Caroline Hall, Elaine O’Shea, Helen Stokes, Peter Foster, Sarah E. Flanagan, Karen E Cosgrove, Mark J Dunne and Indraneel Banerjee

    Citation: Orphanet Journal of Rare Diseases 2020 15:162

    Content type: Research

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  26. With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited endocrine disord...

    Authors: Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira and Olaf Hiort

    Citation: Orphanet Journal of Rare Diseases 2020 15:144

    Content type: Review

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  27. Prader-Willi Syndrome (PWS) is the most common genetic cause of obesity. Various dietary strategies have been used for weight management for people with PWS.

    Authors: Grace Felix, Eric Kossoff, Bobbie Barron, Caitlin Krekel, Elizabeth Getzoff Testa and Ann Scheimann

    Citation: Orphanet Journal of Rare Diseases 2020 15:135

    Content type: Research

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  28. Inherited endocrine tumors are neoplasms of endocrine cells, transmitted via autosomal dominant germinal mutations. They present in two different forms: non-syndromic (patient has a single affected endocrine o...

    Authors: Davide Maraghelli, Francesca Giusti, Francesca Marini and Maria Luisa Brandi

    Citation: Orphanet Journal of Rare Diseases 2020 15:102

    Content type: Review

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  29. Wolcott-Rallison syndrome (WRS) is characterized by permanent early-onset diabetes, skeletal dysplasia and several additional features, e.g. recurrent liver failure. This is the first multicentre approach that...

    Authors: Alena Welters, Thomas Meissner, Katja Konrad, Clemens Freiberg, Katharina Warncke, Sylvia Judmaier, Olga Kordonouri, Michael Wurm, Matthias Papsch, Gisela Fitzke, Silke Christina Schmidt, Sascha R. Tittel and Reinhard W. Holl

    Citation: Orphanet Journal of Rare Diseases 2020 15:100

    Content type: Research

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  30. Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe m...

    Authors: Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio and Gianvincenzo Zuccotti

    Citation: Orphanet Journal of Rare Diseases 2020 15:93

    Content type: Research

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  31. Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated catabolism have been ruled out. With the exception of ...

    Authors: David Araújo-Vilar, Antía Fernández-Pombo, Gemma Rodríguez-Carnero, Miguel Ángel Martínez-Olmos, Ana Cantón, Rocío Villar-Taibo, Álvaro Hermida-Ameijeiras, Alicia Santamaría-Nieto, Carmen Díaz-Ortega, Carmen Martínez-Rey, Antonio Antela, Elena Losada, Andrés E. Muy-Pérez, Blanca González-Méndez and Sofía Sánchez-Iglesias

    Citation: Orphanet Journal of Rare Diseases 2020 15:81

    Content type: Research

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  32. People with Prader-Willi Syndrome (PWS) experience great difficulties in social adaptation that could be explained by disturbances in emotional competencies. However, current knowledge about the emotional func...

    Authors: Nawelle Famelart, Gwenaelle Diene, Sophie Çabal-Berthoumieu, Mélanie Glattard, Catherine Molinas, Michèle Guidetti and Maithe Tauber

    Citation: Orphanet Journal of Rare Diseases 2020 15:55

    Content type: Research

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  33. Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because o...

    Authors: Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia…

    Citation: Orphanet Journal of Rare Diseases 2020 15:17

    Content type: Research

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  34. C3 hypocomplementemia and the presence of C3 nephritic factor (C3NeF), an autoantibody causing complement system over-activation, are common features among most patients affected by Barraquer-Simons syndrome (...

    Authors: Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar and Margarita López-Trascasa

    Citation: Orphanet Journal of Rare Diseases 2020 15:9

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:79

  35. Testicular adrenal rests tumor (TART) is a rare kind of benign tumor in the testis. It usually occurred secondary to congenital adrenal hyperplasia (CAH), a hormonal disorder caused by hydroxylase deficiency. ...

    Authors: Li Ma, Yu Xia, Linlin Wang, Ruifeng Liu, Xuepei Huang, Tiantian Ye, Li Zhang, Qingli Zhu, Jianchu Li and Yuxin Jiang

    Citation: Orphanet Journal of Rare Diseases 2019 14:242

    Content type: Research

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  36. In the last 20 years, substantial improvements have been made in the diagnosis, treatment and management of patients with Prader-Willi syndrome (PWS). Few data on causes of death are available since those impr...

    Authors: Dibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, Catherine Molinas, Gwénaëlle Diene, Marion Valette, Graziella Pinto, Muriel Coupaye, Christine Poitou-Bernert, Denise Thuilleaux, Catherine Arnaud and Maithé Tauber

    Citation: Orphanet Journal of Rare Diseases 2019 14:238

    Content type: Research

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  37. Prader-Willi syndrome (PWS) is a rare complex genetic disorder and is characterized by short stature, muscular hypotonia, abnormal body composition, psychomotor retardation, and hyperphagia. Recombinant human ...

    Authors: Aram Yang, Jin-Ho Choi, Young Bae Sohn, Yunae Eom, Jiyoon Lee, Han-Wook Yoo and Dong-Kyu Jin

    Citation: Orphanet Journal of Rare Diseases 2019 14:216

    Content type: Research

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  38. Wolfram syndrome is a rare genetic, progressive, neurodegenerative disorder characterised by childhood-onset diabetes mellitus, diabetes insipidus, optic atrophy and deafness. To date, the economic burden of W...

    Authors: Sana Eljamel, Wrik Ghosh, Sachin De Stone, Annabel Griffiths, Timothy Barrett and Richard Thompson

    Citation: Orphanet Journal of Rare Diseases 2019 14:185

    Content type: Research

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  39. Although metreleptin replacement therapy was shown to improve metabolic alterations in lipodystrophic syndromes, patients’ adherence and satisfaction with treatment have never been evaluated. The 20 patients w...

    Authors: Camille Vatier, Dina Kalbasi, Marie-Christine Vantyghem, Olivier Lascols, Isabelle Jéru, Anne Daguenel, Jean-François Gautier, Marion Buyse and Corinne Vigouroux

    Citation: Orphanet Journal of Rare Diseases 2019 14:177

    Content type: Research

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  40. Hereditary hemochromatosis (HH) is a genetic disorder that causes excess absorption of iron and can lead to a variety of complications including liver cirrhosis, arthritis, abnormal skin pigmentation, cardiomy...

    Authors: Xiaomu Kong, Lingding Xie, Haiqing Zhu, Lulu Song, Xiaoyan Xing, Wenying Yang and Xiaoping Chen

    Citation: Orphanet Journal of Rare Diseases 2019 14:171

    Content type: Review

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  41. Autonomous ovarian activation with recurrent estrogen-producing cysts is a hallmark feature of the rare bone and endocrine disorder fibrous dysplasia/McCune-Albright syndrome. Precocious puberty in girls with ...

    Authors: Alison M. Boyce, Rachel K. Casey, Diana Ovejero Crespo, Cynthia M. Murdock, Andrea Estrada, Lori C. Guthrie, Beth A. Brillante, Veronica Gomez-Lobo, Lynette K. Nieman and Michael T. Collins

    Citation: Orphanet Journal of Rare Diseases 2019 14:90

    Content type: Research article

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  42. Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by tissue-nonspecific alkaline phosphatase deficiency, characterized by bone mineralization defects and systemic complications. Understandi...

    Authors: Shelagh M. Szabo, Ioannis C. Tomazos, Anna Petryk, Lauren C. Powell, Bonnie M. K. Donato, Yuri A. Zarate, Anatoly Tiulpakov and Gabriel Ángel Martos-Moreno

    Citation: Orphanet Journal of Rare Diseases 2019 14:85

    Content type: Research

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  43. X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic e...

    Authors: Signe Sparre Beck-Nielsen, Zulf Mughal, Dieter Haffner, Ola Nilsson, Elena Levtchenko, Gema Ariceta, Carmen de Lucas Collantes, Dirk Schnabel, Ravi Jandhyala and Outi Mäkitie

    Citation: Orphanet Journal of Rare Diseases 2019 14:58

    Content type: Review

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  44. Myotonic dystrophy (DM1), a neuromuscular disease related to DMPK gene mutations, is associated to endocrine disorders and cancer. A routine endocrine work-up, including thyroid ultrasound (US), was conducted in ...

    Authors: Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, Miriam Ladsous, Camille Loyer, Alexandre Moerman, Samuel Boury, Maéva Kyheng, Claire-Marie Dhaenens, Vincent Tiffreau, Pascal Pigny, Gilles Lebuffe, Robert Caiazzo, Sébastien Aubert and Marie Christine Vantyghem

    Citation: Orphanet Journal of Rare Diseases 2019 14:42

    Content type: Research

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  45. Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infancy that leads to unfavourable neurological outcome if not treated adequately. In patients with severe diffuse CHI i...

    Authors: Alena Welters, Thomas Meissner, Jürgen Grulich-Henn, Elke Fröhlich-Reiterer, Katharina Warncke, Klaus Mohnike, Oliver Blankenstein, Ulrike Menzel, Nicolin Datz, Esther Bollow and Reinhard W. Holl

    Citation: Orphanet Journal of Rare Diseases 2018 13:230

    Content type: Research

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  46. Rare diseases are often not fully understood and efforts put in investigating it from patient perspective are usually met with challenges. We performed a systematic literature review (SLR) for the last 20 year...

    Authors: Naomi Knoble, Gabrielle Nayroles, Cherry Cheng and Benoit Arnould

    Citation: Orphanet Journal of Rare Diseases 2018 13:228

    Content type: Review

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  47. The Differences of Sex Development network (DSDnet) aims to establish interactive relationships between clinicians, scientists, support groups and people with a difference of sex development (DSD) to improve t...

    Authors: R. Bertalan, A. Lucas-Herald, Z. Kolesinska, M. Berra, Martine Cools, A. Balsamo and O. Hiort

    Citation: Orphanet Journal of Rare Diseases 2018 13:227

    Content type: Research

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  48. Multiple endocrine neoplasia (MEN1) is a rare inherited multi-tumour syndrome, affecting specific neuroendocrine organs and non-endocrine tissues with a variable spectrum of over 20 possible different combinat...

    Authors: Francesca Marini, Francesca Giusti and Maria Luisa Brandi

    Citation: Orphanet Journal of Rare Diseases 2018 13:205

    Content type: Research

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  49. Congenital hyperinsulinism (CHI) is a rare, genetic disease which causes persistent hypoglycaemia, typically in new-borns. Patients with the diffuse disease variant often require near-total surgical removal of...

    Authors: Sana Eljamel, Annabel Griffiths, Jenni Evans, Indraneel Banerjee, Khalid Hussain and Richard Thompson

    Citation: Orphanet Journal of Rare Diseases 2018 13:123

    Content type: Research

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