Literature DB >> 31406344

Addressing gaps in care of people with conditions affecting sex development and maturation.

Olaf Hiort1, Martine Cools2,3, Alexander Springer4, Ken McElreavey5, Andy Greenfield6, Stefan A Wudy7, Alexandra Kulle8, S Faisal Ahmed9, Arianne Dessens10, Antonio Balsamo11, Mohamad Maghnie12, Marco Bonomi13,14, Mehul Dattani15, Luca Persani13,14, Laura Audi16.   

Abstract

Differences of sex development are conditions with discrepancies between chromosomal, gonadal and phenotypic sex. In congenital hypogonadotropic hypogonadism, a lack of gonadotropin activity results primarily in the absence of pubertal development with prenatal sex development being (almost) unaffected in most patients. To expedite progress in the care of people affected by differences of sex development and congenital hypogonadotropic hypogonadism, the European Union has funded a number of scientific networks. Two Actions of the Cooperation of Science and Technology (COST) programmes - DSDnet (BM1303) and GnRH Network (BM1105) - provided the framework for ground-breaking research and allowed the development of position papers on diagnostic procedures and special laboratory analyses as well as clinical management. Both Actions developed educational programmes to increase expertise and promote interest in this area of science and medicine. In this Perspective article, we discuss the success of the COST Actions DSDnet and GnRH Network and the European Reference Network for Rare Endocrine Conditions (Endo-ERN), and provide recommendations for future research.

Entities:  

Mesh:

Year:  2019        PMID: 31406344     DOI: 10.1038/s41574-019-0238-y

Source DB:  PubMed          Journal:  Nat Rev Endocrinol        ISSN: 1759-5029            Impact factor:   43.330


  15 in total

1.  Sex chromosome aneuploidies in 2020-The state of care and research in the world.

Authors:  Claus H Gravholt; Nicole Tartaglia; Christine Disteche
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-06-04       Impact factor: 3.908

Review 2.  Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome.

Authors:  Felix Reschke; Julia Rohayem; Pietro Maffei; Francesca Dassie; Anke Schwandt; Carine de Beaufort; Sonia Toni; Agnieszka Szypowska; Roque Cardona-Hernandez; Nicolin Datz; Katharina Klee; Thomas Danne
Journal:  Endocrine       Date:  2021-02-01       Impact factor: 3.633

3.  Validating online approaches for rare disease research using latent class mixture modeling.

Authors:  Andrew A Dwyer; Ziwei Zeng; Christopher S Lee
Journal:  Orphanet J Rare Dis       Date:  2021-05-10       Impact factor: 4.123

4.  Molecular Aspects of Sex Development in Mammals: New Insight for Practice.

Authors:  Laura Audí; Silvano Bertelloni; Christa E Flück
Journal:  Int J Mol Sci       Date:  2020-11-30       Impact factor: 5.923

5.  Educational and knowledge gaps within the European reference network on rare endocrine conditions.

Authors:  Violeta Iotova; Camilla Schalin-Jäntti; Petra Bruegmann; Manuela Broesamle; Natasa Bratina; Vallo Tillmann; Olaf Hiort; Alberto M Pereira
Journal:  Endocr Connect       Date:  2021-01       Impact factor: 3.335

Review 6.  ENDO-ERN expert opinion on the differential diagnosis of pubertal delay.

Authors:  Luca Persani; Marco Bonomi; Martine Cools; Mehul Dattani; Leo Dunkel; Claus H Gravholt; Anders Juul
Journal:  Endocrine       Date:  2021-01-29       Impact factor: 3.633

7.  Evaluating co-created patient-facing materials to increase understanding of genetic test results.

Authors:  Andrew A Dwyer; Margaret G Au; Neil Smith; Lacey Plummer; Margaret F Lippincott; Ravikumar Balasubramanian; Stephanie B Seminara
Journal:  J Genet Couns       Date:  2020-10-24       Impact factor: 2.537

Review 8.  The Role of International Databases in Understanding the Aetiology and Consequences of Differences/Disorders of Sex Development.

Authors:  Salma Rashid Ali; Angela Lucas-Herald; Jillian Bryce; Syed Faisal Ahmed
Journal:  Int J Mol Sci       Date:  2019-09-07       Impact factor: 5.923

Review 9.  Oligogenic Origin of Differences of Sex Development in Humans.

Authors:  Núria Camats; Christa E Flück; Laura Audí
Journal:  Int J Mol Sci       Date:  2020-03-06       Impact factor: 5.923

10.  Care of adult women with Turner syndrome: the state of affairs in Germany.

Authors:  Mette H Viuff; Claus H Gravholt
Journal:  Endocr Connect       Date:  2019-12       Impact factor: 3.335

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