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).

  1. Research

    Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome

    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...

    Céline Bar, Gwenaelle Diene, Catherine Molinas, Eric Bieth, Charlotte Casper and Maithé Tauber

    Orphanet Journal of Rare Diseases 2017 12:118

    Published on: 28 June 2017

  2. Research

    Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism

    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 ...

    Heike Corda, Sebastian Kummer, Alena Welters, Norbert Teig, Dirk Klee, Ertan Mayatepek and Thomas Meissner

    Orphanet Journal of Rare Diseases 2017 12:108

    Published on: 2 June 2017

  3. Research

    Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI)

    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...

    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

    Orphanet Journal of Rare Diseases 2017 12:96

    Published on: 22 May 2017

  4. Research

    Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

    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...

    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…

    Orphanet Journal of Rare Diseases 2017 12:57

    Published on: 20 March 2017

  5. Research

    An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development

    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...

    M. Kourime, J. Bryce, J. Jiang, R. Nixon, M. Rodie and S.F. Ahmed

    Orphanet Journal of Rare Diseases 2017 12:56

    Published on: 20 March 2017

  6. Research

    Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

    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...

    Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu and Rahman Jamal

    Orphanet Journal of Rare Diseases 2017 12:40

    Published on: 21 February 2017

  7. Review

    Diseases associated with calcium-sensing receptor

    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...

    C. Vahe, K. Benomar, S. Espiard, L. Coppin, A. Jannin, M. F. Odou and M. C. Vantyghem

    Orphanet Journal of Rare Diseases 2017 12:19

    Published on: 25 January 2017

  8. Research

    Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time

    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...

    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

    Orphanet Journal of Rare Diseases 2016 11:163

    Published on: 1 December 2016

  9. Research

    Current models of care for disorders of sex development – results from an International survey of specialist centres

    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...

    Andreas Kyriakou, Arianne Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Caroline Sanders, Olaf Hiort and S. Faisal Ahmed

    Orphanet Journal of Rare Diseases 2016 11:155

    Published on: 21 November 2016

  10. Research

    Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial

    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 ...

    R. J. Kuppens, E. F. Mahabier, N. E. Bakker, E. P. C. Siemensma, S. H. Donze and A. C. S. Hokken-Koelega

    Orphanet Journal of Rare Diseases 2016 11:153

    Published on: 16 November 2016

  11. Review

    The risks of overlooking the diagnosis of secreting pituitary adenomas

    Secreting pituitary adenomas that cause acromegaly and Cushing’s disease, as well as prolactinomas and thyrotroph adenomas, are uncommon, usually benign, slow-growing tumours. The rarity of these conditions me...

    Thierry Brue and Frederic Castinetti

    Orphanet Journal of Rare Diseases 2016 11:135

    Published on: 6 October 2016

  12. Research

    Clinical and endocrine characteristics and genetic analysis of Korean children with McCune–Albright syndrome: a retrospective cohort study

    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...

    Eun-Kyung Cho, Jinsup Kim, Aram Yang, Chang-Seok Ki, Ji-Eun Lee, Sung Yoon Cho and Dong-Kyu Jin

    Orphanet Journal of Rare Diseases 2016 11:113

    Published on: 9 August 2016

  13. Research

    High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome

    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...

    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

    Orphanet Journal of Rare Diseases 2016 11:56

    Published on: 4 May 2016

  14. Letter to the Editor

    Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients

    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...

    R. P. Dias, C. R. Buchanan, N. Thomas, S. Lim, G. Solanki, SEJ Connor, T. G. Barrett and R. R. Kapoor

    Orphanet Journal of Rare Diseases 2016 11:14

    Published on: 10 February 2016

  15. Research

    Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers

    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...

    Alena Welters, Christian Lerch, Sebastian Kummer, Jan Marquard, Burak Salgin, Ertan Mayatepek and Thomas Meissner

    Orphanet Journal of Rare Diseases 2015 10:150

    Published on: 25 November 2015

  16. Research

    Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome

    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...

    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

    Orphanet Journal of Rare Diseases 2015 10:106

    Published on: 2 September 2015

  17. Research

    Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

    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 ...

    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

    Orphanet Journal of Rare Diseases 2014 9:209

    Published on: 14 December 2014

  18. Research

    A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

    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...

    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

    Orphanet Journal of Rare Diseases 2014 9:173

    Published on: 18 November 2014

  19. Review

    Simpson-Golabi-Behmel syndrome types I and II

    Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and...

    Jair Tenorio, Pedro Arias, Víctor Martínez-Glez, Fernando Santos, Sixto García-Miñaur, Julián Nevado and Pablo Lapunzina

    Orphanet Journal of Rare Diseases 2014 9:138

    Published on: 20 September 2014

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