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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. 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

    Content type: Letter to the Editor

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  2. 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

    Content type: Research

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  3. 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

    Content type: Research

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  4. 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

    Content type: Research

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  5. 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

    Content type: Review

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  6. 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

    Content type: Research

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  7. 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

    Content type: Research

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  8. 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

    Content type: Research

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  10. 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

    Content type: Research

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  11. 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

    Content type: Research

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  12. 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

    Content type: Letter to the Editor

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  13. 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

    Content type: Research

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  14. 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

    Content type: Research

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  15. 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

    Content type: Research

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  16. 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

    Content type: Research

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  17. 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

    Content type: Review

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172