Literature DB >> 29339667

Improving Laboratory Assessment in Disorders of Sex Development through a Multidisciplinary Network.

Sabine E Hannema1, Yolanda B de Rijke.   

Abstract

The aim of the European Reference Network for Rare Endocrine Disorders (Endo-ERN) is to ensure equal access to high-quality care for all those affected by a rare endocrine condition across Europe, such as a disorder/difference of sex development (DSD), both for children and adults. Although differences in resources, health care systems, and health insurances between the European countries are challenging and require political action, a European laboratory network within Endo-ERN could improve the diagnostic process in individuals with DSD, building on the work done by previous European collaborations such as the COST action DSDnet. In close collaboration, clinicians and laboratory specialists must make every effort to standardize diagnostic protocols, achieve necessary harmonization of various laboratory tests, e.g., the hCG stimulation test, and implement an external quality control system. This should ideally result in comparable quality across the network centers allowing the sharing of reference values. This would not only improve patient care but also greatly facilitate research.
© 2018 The Author(s) Published by S. Karger AG, Basel.

Entities:  

Keywords:  Diagnostic process; Disorder of sex development; European Reference Network; Laboratory protocol; Rare endocrine disorders

Mesh:

Substances:

Year:  2018        PMID: 29339667      PMCID: PMC5872561          DOI: 10.1159/000486329

Source DB:  PubMed          Journal:  Sex Dev        ISSN: 1661-5425            Impact factor:   1.824


  23 in total

1.  A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.

Authors:  J C Achermann; M Ito; M Ito; P C Hindmarsh; J L Jameson
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

2.  Changes in serum insulin-like factor 3 during normal male puberty.

Authors:  Alberto Ferlin; Andrea Garolla; Franco Rigon; Lucia Rasi Caldogno; Andrea Lenzi; Carlo Foresta
Journal:  J Clin Endocrinol Metab       Date:  2006-06-27       Impact factor: 5.958

Review 3.  Testosterone therapy in men with androgen deficiency syndromes: an Endocrine Society clinical practice guideline.

Authors:  Shalender Bhasin; Glenn R Cunningham; Frances J Hayes; Alvin M Matsumoto; Peter J Snyder; Ronald S Swerdloff; Victor M Montori
Journal:  J Clin Endocrinol Metab       Date:  2010-06       Impact factor: 5.958

4.  Pitfalls of conventional human chorionic gonadotropin stimulation test to detect hormonally functional cryptorchid testes in midchildhood.

Authors:  S K Bhowmick; V K Gidvani
Journal:  Endocr Pract       Date:  2000 Jan-Feb       Impact factor: 3.443

Review 5.  Primary ovarian insufficiency: autoimmune causes.

Authors:  Antonio La Marca; Annalisa Brozzetti; Giovanna Sighinolfi; Stefania Marzotti; Annibale Volpe; Alberto Falorni
Journal:  Curr Opin Obstet Gynecol       Date:  2010-08       Impact factor: 1.927

6.  Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.

Authors:  Anu Bashamboo; Bruno Ferraz-de-Souza; Diana Lourenço; Lin Lin; Neil J Sebire; Debbie Montjean; Joelle Bignon-Topalovic; Jacqueline Mandelbaum; Jean-Pierre Siffroi; Sophie Christin-Maitre; Uppala Radhakrishna; Hassan Rouba; Celia Ravel; Jacob Seeler; John C Achermann; Ken McElreavey
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

7.  Comparison of single versus multiple dose regimens for the human chorionic gonadotropin stimulatory test.

Authors:  T F Kolon; O F Miller
Journal:  J Urol       Date:  2001-10       Impact factor: 7.450

8.  Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays.

Authors:  T Wong; C H Shackleton; T R Covey; G Ellis
Journal:  Clin Chem       Date:  1992-09       Impact factor: 8.327

9.  Dehydroepiandrostenedione sulphate interferes in many direct immunoassays for testosterone.

Authors:  Jonathan G Middle
Journal:  Ann Clin Biochem       Date:  2007-03       Impact factor: 2.057

Review 10.  Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.

Authors:  A Kulle; N Krone; P M Holterhus; G Schuler; R F Greaves; A Juul; Y B de Rijke; M F Hartmann; A Saba; O Hiort; S A Wudy
Journal:  Eur J Endocrinol       Date:  2017-02-10       Impact factor: 6.664

View more
  3 in total

Review 1.  Towards improved genetic diagnosis of human differences of sex development.

Authors:  Emmanuèle C Délot; Eric Vilain
Journal:  Nat Rev Genet       Date:  2021-06-03       Impact factor: 53.242

Review 2.  Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development).

Authors:  Martin A Estermann; Craig A Smith
Journal:  Int J Mol Sci       Date:  2020-09-10       Impact factor: 5.923

Review 3.  Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.

Authors:  Yolande van Bever; Hennie T Brüggenwirth; Katja P Wolffenbuttel; Arianne B Dessens; Irene A L Groenenberg; Maarten F C M Knapen; Elfride De Baere; Martine Cools; Conny M A van Ravenswaaij-Arts; Birgit Sikkema-Raddatz; Hedi Claahsen-van der Grinten; Marlies Kempers; Tuula Rinne; Remko Hersmus; Leendert Looijenga; Sabine E Hannema
Journal:  J Med Genet       Date:  2020-04-17       Impact factor: 6.318

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.