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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. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. Wolfram syndrome (WFS) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), optic nerve atrophy (OA) and sensorineural hearing loss (SNHL). Alt...

    Authors: Roanne Karzon, Anagha Narayanan, Ling Chen, Judith E. C. Lieu and Tamara Hershey
    Citation: Orphanet Journal of Rare Diseases 2018 13:102
  16. Prader–Willi syndrome (PWS) is often related to severe obesity and type-2 diabetes mellitus (T2DM). However, few studies, and none in Korea, have examined prevalence of T2DM and other variables in PWS. The aim...

    Authors: Aram Yang, Jinsup Kim, Sung Yoon Cho and Dong-Kyu Jin
    Citation: Orphanet Journal of Rare Diseases 2017 12:146
  17. PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early d...

    Authors: Céline Bar, Gwenaelle Diene, Catherine Molinas, Eric Bieth, Charlotte Casper and Maithé Tauber
    Citation: Orphanet Journal of Rare Diseases 2017 12:118
  18. Treatment of severe diffuse congenital hyperinsulinism (CHI) without sufficient response to diazoxide is complicated by the lack of approved drugs. Therefore, patients are often hospitalized long-term or have ...

    Authors: Heike Corda, Sebastian Kummer, Alena Welters, Norbert Teig, Dirk Klee, Ertan Mayatepek and Thomas Meissner
    Citation: Orphanet Journal of Rare Diseases 2017 12:108
  19. Congenital Hyperinsulinism (CHI) is a disease of severe hypoglycaemia caused by excess insulin secretion and associated with adverse neurodevelopment in a third of children. The Vineland Adaptive Behavior Scal...

    Authors: Maria Salomon-Estebanez, Zainab Mohamed, Maria Michaelidou, Hannah Collins, Lindsey Rigby, Mars Skae, Raja Padidela, Stewart Rust, Mark Dunne, Karen Cosgrove, Indraneel Banerjee and Jacqueline Nicholson
    Citation: Orphanet Journal of Rare Diseases 2017 12:96
  20. We have recently published on the limited effectiveness of sirolimus as a treatment option for hypoglycaemia as a consequence of hyperinsulinism. Our data oppose the view that mTOR inhibitors provide new oppor...

    Authors: Indraneel Banerjee, Diva De Leon and Mark J. Dunne
    Citation: Orphanet Journal of Rare Diseases 2017 12:70
  21. Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships to produc...

    Authors: Corin Badiu, Marco Bonomi, Ivan Borshchevsky, Martine Cools, Margarita Craen, Cristina Ghervan, Michael Hauschild, Eli Hershkovitz, Erik Hrabovszky, Anders Juul, Soo-Hyun Kim, Phillip Kumanov, Beatriz Lecumberri, Manuel C. Lemos, Vassos Neocleous, Marek Niedziela…
    Citation: Orphanet Journal of Rare Diseases 2017 12:57
  22. With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.T...

    Authors: M. Kourime, J. Bryce, J. Jiang, R. Nixon, M. Rodie and S.F. Ahmed
    Citation: Orphanet Journal of Rare Diseases 2017 12:56
  23. Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Mal...

    Authors: Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu and Rahman Jamal
    Citation: Orphanet Journal of Rare Diseases 2017 12:40
  24. The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the C...

    Authors: C. Vahe, K. Benomar, S. Espiard, L. Coppin, A. Jannin, M. F. Odou and M. C. Vantyghem
    Citation: Orphanet Journal of Rare Diseases 2017 12:19
  25. Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural hist...

    Authors: Maria Salomon-Estebanez, Sarah E. Flanagan, Sian Ellard, Lindsey Rigby, Louise Bowden, Zainab Mohamed, Jacqueline Nicholson, Mars Skae, Caroline Hall, Ross Craigie, Raja Padidela, Nuala Murphy, Tabitha Randell, Karen E. Cosgrove, Mark J. Dunne and Indraneel Banerjee
    Citation: Orphanet Journal of Rare Diseases 2016 11:163
  26. To explore the current models of practice in centres delivering specialist care for children with disorders of sex development (DSD), an international survey of 124 clinicians, identified through DSDnet and th...

    Authors: Andreas Kyriakou, Arianne Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Caroline Sanders, Olaf Hiort and S. Faisal Ahmed
    Citation: Orphanet Journal of Rare Diseases 2016 11:155
  27. Patients with Prader-Willi syndrome (PWS) have a cognitive impairment. Growth hormone (GH) treatment during childhood improves cognitive functioning, while cognition deteriorates in GH-untreated children with ...

    Authors: R. J. Kuppens, E. F. Mahabier, N. E. Bakker, E. P. C. Siemensma, S. H. Donze and A. C. S. Hokken-Koelega
    Citation: Orphanet Journal of Rare Diseases 2016 11:153
  28. McCune–Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few in...

    Authors: Eun-Kyung Cho, Jinsup Kim, Aram Yang, Chang-Seok Ki, Ji-Eun Lee, Sung Yoon Cho and Dong-Kyu Jin
    Citation: Orphanet Journal of Rare Diseases 2016 11:113
  29. Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with different nutritional phases from suckling deficit with failure to thrive to early onset of obesity. Hyperghrelinemia has been des...

    Authors: Veronique Beauloye, Gwenaelle Diene, Renske Kuppens, Francis Zech, Coralie Winandy, Catherine Molinas, Sandy Faye, Isabelle Kieffer, Dominique Beckers, Ricard Nergårdh, Berthold Hauffa, Christine Derycke, Patrick Delhanty, Anita Hokken-Koelega and Maithé Tauber
    Citation: Orphanet Journal of Rare Diseases 2016 11:56
  30. Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutatio...

    Authors: R. P. Dias, C. R. Buchanan, N. Thomas, S. Lim, G. Solanki, SEJ Connor, T. G. Barrett and R. R. Kapoor
    Citation: Orphanet Journal of Rare Diseases 2016 11:14
  31. Up to now, only limited data on long-term medical treatment in congenital hyperinsulinism (CHI) is available. Moreover, most of the drugs used in CHI are therefore not approved. We aimed to assemble more objec...

    Authors: Alena Welters, Christian Lerch, Sebastian Kummer, Jan Marquard, Burak Salgin, Ertan Mayatepek and Thomas Meissner
    Citation: Orphanet Journal of Rare Diseases 2015 10:150
  32. Children with Prader-Willi Syndrome (PWS) have been considered at risk for central adrenal insufficiency (CAI). Hypothalamic dysregulation has been proposed as a common mechanism underlying both stress-induced...

    Authors: Veronique Beauloye, K. Dhondt, W. Buysse, A. Nyakasane, F. Zech, J. De Schepper, S. Van Aken, K. De Waele, M. Craen, I. Gies, I. Francois, D. Beckers, A. Desloovere, G. Francois and M. Cools
    Citation: Orphanet Journal of Rare Diseases 2015 10:106
  33. One in 4500 children is born with ambiguous genitalia, milder phenotypes occur in one in 300 newborns. Conventional time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20-40% of ...

    Authors: Dorien Baetens, Wilhelm Mladenov, Barbara Delle Chiaie, Björn Menten, An Desloovere, Violeta Iotova, Bert Callewaert, Erik Van Laecke, Piet Hoebeke, Elfride De Baere and Martine Cools
    Citation: Orphanet Journal of Rare Diseases 2014 9:209
  34. Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifes...

    Authors: Regina M Leadley, Shona Lang, Kate Misso, Trudy Bekkering, Janine Ross, Takeyuki Akiyama, Michael Fietz, Roberto Giugliani, Chris J Hendriksz, Ngu Lock Hock, Jim McGill, Andrew Olaye, Mohit Jain and Jos Kleijnen
    Citation: Orphanet Journal of Rare Diseases 2014 9:173
  35. Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and...

    Authors: Jair Tenorio, Pedro Arias, Víctor Martínez-Glez, Fernando Santos, Sixto García-Miñaur, Julián Nevado and Pablo Lapunzina
    Citation: Orphanet Journal of Rare Diseases 2014 9:138