Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions

2021 ◽  
Author(s):  
Johannsen TH ◽  
Andersson AM ◽  
Ahmed SF ◽  
de Rijke YB ◽  
Greaves RF ◽  
...  
Keyword(s):  
Peptide Hormone ◽  
Position Paper ◽  
Diagnosis And Treatment ◽  
Reference Network ◽  
Joint Position ◽  
Cost Action ◽  
Sex Development ◽  
European Reference Network ◽  
Differences Of Sex Development ◽  
Hormone Analysis

scholarly journals Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions

2020 ◽  
Vol 182 (6) ◽  
pp. P1-P15
Author(s):  
T H Johannsen ◽  
A-M Andersson ◽  
S F Ahmed ◽  
Y B de Rijke ◽  
R F Greaves ◽  
...  
Keyword(s):  
Peptide Hormone ◽  
Position Paper ◽  
Inhibin B ◽  
Diagnosis And Treatment ◽  
Reference Network ◽  
Cost Action ◽  
Sex Development ◽  
European Reference Network ◽  
Differences Of Sex Development ◽  
Hormone Analysis

Differences of Sex Development (DSD) comprise a variety of congenital conditions characterized by atypical chromosomal, gonadal, or anatomical sex. Diagnosis and monitoring of treatment of patients suspected of DSD conditions include clinical examination, measurement of peptide and steroid hormones, and genetic analysis. This position paper on peptide hormone analyses in the diagnosis and control of patients with DSD was jointly prepared by specialists in the field of DSD and/or peptide hormone analysis from the European Cooperation in Science and Technology (COST) Action DSDnet (BM1303) and the European Reference Network on rare Endocrine Conditions (Endo-ERN). The goal of this position paper on peptide hormone analysis was to establish laboratory guidelines that may contribute to improve optimal diagnosis and treatment control of DSD. The essential peptide hormones used in the management of patients with DSD conditions are follicle-stimulating hormone, luteinising hormone, anti-Müllerian hormone, and Inhibin B. In this context, the following position statements have been proposed: serum and plasma are the preferred matrices; the peptide hormones can all be measured by immunoassay, while use of LC-MS/MS technology has yet to be implemented in a diagnostic setting; sex- and age-related reference values are mandatory in the evaluation of these hormones; and except for Inhibin B, external quality assurance programs are widely available.

scholarly journals Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 ‘DSDnet’

2017 ◽  
Vol 176 (5) ◽  
pp. P1-P9 ◽  
Author(s):  
A Kulle ◽  
N Krone ◽  
P M Holterhus ◽  
G Schuler ◽  
R F Greaves ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Steroid Hormone ◽  
Position Paper ◽  
European Countries ◽  
Diagnosis And Treatment ◽  
Quality Assurance Program ◽  
Laboratory Assessment ◽  
Sex Development ◽  
International Partner ◽  
Hormone Analysis

Disorders or differences in sex development (DSD) comprise a heterogeneous group of conditions with an atypical sex development. For optimal diagnosis, highly specialised laboratory analyses are required across European countries. Working group 3 of EU COST (European Cooperation in Science and Technology) Action BM 1303 ‘DSDnet’ ‘Harmonisation of Laboratory Assessment’ has developed recommendations on laboratory assessment for DSD regarding the use of technologies and analytes to be investigated. This position paper on steroid hormone analysis in diagnosis and treatment of DSD was compiled by a group of specialists in DSD and/or hormonal analysis, either from participating European countries or international partner countries. The topics discussed comprised analytical methods (immunoassay/mass spectrometry-based methods), matrices (urine/serum/saliva) and harmonisation of laboratory tests. The following positions were agreed upon: support of the appropriate use of immunoassay- and mass spectrometry-based methods for diagnosis and monitoring of DSD. Serum/plasma and urine are established matrices for analysis. Laboratories performing analyses for DSD need to operate within a quality framework and actively engage in harmonisation processes so that results and their interpretation are the same irrespective of the laboratory they are performed in. Participation in activities of peer comparison such as sample exchange or when available subscribing to a relevant external quality assurance program should be achieved. The ultimate aim of the guidelines is the implementation of clinical standards for diagnosis and appropriate treatment of DSD to achieve the best outcome for patients, no matter where patients are investigated or managed.

scholarly journals SUN-070 European Registries for Rare Endocrine Conditions (EuRRECa): Results from the Platform for E-reporting of Rare Endocrine Conditions (e-REC)

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Salma R Ali ◽  
Jillian Bryce ◽  
Martine Cools ◽  
Thomas Danne ◽  
Mehul T Dattani ◽  
...  
Keyword(s):  
Median Number ◽  
Reference Network ◽  
Clinical Activity ◽  
Monthly Basis ◽  
Web Based ◽  
Electronic Reporting ◽  
Sex Development ◽  
European Reference Network ◽  
Reporting Programme ◽  
Network Methods

Abstract Background EuRRECa (European Registries for Rare Endocrine Conditions) is a group of web-based projects that work closely with the European Reference Network (ERN) for Rare Endocrine Conditions (endo-ern.eu) and helps the ERN with inventorying its clinical activity. To understand the number of new encounters of rare conditions within this network, it has launched an e-reporting programme for rare endocrine conditions (e-REC) that are covered within this network. Methods 46 endocrine centres within 18 countries volunteered to participate in e-REC from July 2018 to June 2019. An electronic reporting ‘card’ developed through REDcap was issued monthly to enquire whether clinicians had encountered a new case of any condition within the 8 Endo-ERN main thematic groups (MTGs). Results On a monthly basis over 1 year, a median of 14 (range 11, 21) paediatric centres and 13 (11, 25) adult centres actively reported cases. A median of 53 (22, 80) paediatric cases and 96 (42, 250) adult cases were reported monthly. Amongst paediatric cases, conditions within the Sex Development and Maturation (SDM) theme were most commonly reported comprising 38% of all reported conditions, with XY, DSD being the most commonly reported condition (24% of cases). Amongst adults, Pituitary and Thyroid conditions were most commonly reported, 34% and 26% of all conditions, respectively. Amongst conditions within the Pituitary group, pituitary adenoma was the most commonly reported condition (74% of cases) and non-metastatic thyroid carcinoma was the most commonly reported condition (95% of cases) amongst the Thyroid group. In children, the median number of cases reported per centre was 21 (9, 32) for conditions affecting SDM. In adults, a median of 37 (6, 75) Pituitary and 22 (5, 80) Thyroid cases were reported per centre. Conclusion e-REC is a simple, yet effective, platform that can be used to capture information on new encounters with patients with several rare conditions and can be adapted to serve the needs of other discrete networks that are interested in understanding the occurrence of rare conditions.

scholarly journals The current landscape of European registries for rare endocrine conditions

2019 ◽  
Vol 180 (1) ◽  
pp. 89-98 ◽  
Author(s):  
S R Ali ◽  
J Bryce ◽  
M Cools ◽  
M Korbonits ◽  
J G Beun ◽  
...  
Keyword(s):  
Overall Response Rate ◽  
Response Rate ◽  
Disorders Of Sex Development ◽  
Participation Rate ◽  
Reference Network ◽  
Cross Border ◽  
Sex Development ◽  
European Reference Network ◽  
International Registry ◽  
Genetic Tumour

Objective To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres (RCs) for rare endocrine conditions. Methods Database search of international registries and a survey of RCs in the European Reference Network for rare endocrine conditions (Endo-ERN) with an overall response rate of 82%. Results Of the 42 conditions with orphacodes currently covered within Endo-ERN, international registries exist for 32 (76%). Of 27 registries identified in the Orphanet and RD-Connect databases, Endo-ERN RCs were aware of 11 (41%). Of 21 registries identified by the RC, RD-Connect and Orphanet did not have a record of 10 (48%). Of the 29 glucose RCs, the awareness and participation rate in an international registry was highest for rare diabetes at 75 and 56% respectively. Of the 37 sex development RCs, the corresponding rates were highest for disorders of sex development at 70 and 52%. Of the 33 adrenal RCs, the rates were highest for adrenocortical tumours at 68 and 43%. Of the 43 pituitary RCs, the rates were highest for pituitary adenomas at 43 and 29%. Of the 31 genetic tumour RCs, the rates were highest for MEN1 at 26 and 9%. For the remaining conditions, awareness and participation in registries was less than 25%. Conclusion Although there is a need to develop new registries for rare endocrine conditions, there is a more immediate need to improve the awareness and participation in existing registries.

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

2020 ◽  
Vol 57 (9) ◽  
pp. 581-589
Author(s):  
Yolande van Bever ◽  
Hennie T Brüggenwirth ◽  
Katja P Wolffenbuttel ◽  
Arianne B Dessens ◽  
Irene A L Groenenberg ◽  
...  
Keyword(s):  
Molecular Diagnostics ◽  
Network Formation ◽  
Quality Care ◽  
Daily Practice ◽  
Clinical Situation ◽  
Reference Network ◽  
International Consensus ◽  
Sex Development ◽  
Limited Experience ◽  
Differences Of Sex Development

We present key points from the updated Dutch-Flemish guideline on comprehensive diagnostics in disorders/differences of sex development (DSD) that have not been widely addressed in the current (inter)national literature. These points are of interest to physicians working in DSD (expert) centres and to professionals who come across persons with a DSD but have no (or limited) experience in this area. The Dutch-Flemish guideline is based on internationally accepted principles. Recent initiatives striving for uniform high-quality care across Europe, and beyond, such as the completed COST action 1303 and the European Reference Network for rare endocrine conditions (EndoERN), have generated several excellent papers covering nearly all aspects of DSD. The Dutch-Flemish guideline follows these international consensus papers and covers a number of other topics relevant to daily practice. For instance, although next-generation sequencing (NGS)-based molecular diagnostics are becoming the gold standard for genetic evaluation, it can be difficult to prove variant causality or relate the genotype to the clinical presentation. Network formation and centralisation are essential to promote functional studies that assess the effects of genetic variants and to the correct histological assessment of gonadal material from DSD patients, as well as allowing for maximisation of expertise and possible cost reductions. The Dutch-Flemish guidelines uniquely address three aspects of DSD. First, we propose an algorithm for counselling and diagnostic evaluation when a DSD is suspected prenatally, a clinical situation that is becoming more common. Referral to ultrasound sonographers and obstetricians who are part of a DSD team is increasingly important here. Second, we pay special attention to healthcare professionals not working within a DSD centre as they are often the first to diagnose or suspect a DSD, but are not regularly exposed to DSDs and may have limited experience. Their thoughtful communication to patients, carers and colleagues, and the accessibility of protocols for first-line management and efficient referral are essential. Careful communication in the prenatal to neonatal period and the adolescent to adult transition are equally important and relatively under-reported in the literature. Third, we discuss the timing of (NGS-based) molecular diagnostics in the initial workup of new patients and in people with a diagnosis made solely on clinical grounds or those who had earlier genetic testing that is not compatible with current state-of-the-art diagnostics.

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