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 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.

Harmonisation of serum dihydrotestosterone analysis: establishment of an external quality assurance program

2017 ◽  
Vol 55 (4) ◽  
Author(s):  
Ronda F. Greaves ◽  
Lisa Jolly ◽  
Michaela F. Hartmann ◽  
Chung Shun Ho ◽  
Richard K.T. Kam ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Quality Assurance ◽  
Disorders Of Sex Development ◽  
Measurement Procedure ◽  
External Quality Assurance ◽  
Quality Assurance Program ◽  
External Quality ◽  
Sex Development ◽  
Study Results ◽  
Target Values

Abstract Background: Serum dihydrotestosterone (DHT) is an important analyte for the clinical assessment of disorders of sex development. It is also reportedly a difficult analyte to measure. Currently, there are significant gaps in the standardisation of this analyte, including no external quality assurance (EQA) program available worldwide to allow for peer review performance of DHT. We therefore proposed to establish a pilot EQA program for serum DHT. Methods: DHT was assessed in the 2015 Royal College of Pathologists of Australasia Quality Assurance Programs’ Endocrine program material. The material’s target (i.e. “true”) values were established using a measurement procedure based on isotope dilution gas chromatography (GC) tandem mass spectrometry (MS/MS). DHT calibrator values were based on weighed values of pure DHT material (>97.5% purity) from Sigma. The allowable limits of performance (ALP) were established as ±0.1 up to 0.5 nmol/L and ±15% for targets >0.5 nmol/L. Results: Target values for the six levels of RCPAQAP material for DHT ranged from 0.02 to 0.43 nmol/L (0.01–0.12 ng/mL). The material demonstrated linearity across the six levels. There were seven participating laboratories for this pilot study. Results of the liquid chromatography (LC) MS/MS methods were within the ALP; whereas the results from the immunoassay methods were consistently higher than the target values and outside the ALP. Conclusions: This report provides the first peer comparison of serum DHT measured by mass spectrometry (MS) and immunoassay laboratories. Establishment of this program provides one of the pillars to achieve method harmonisation. This supports accurate clinical decisions where DHT measurement is required.

Development of the phenylketonuria screening programme in Estonia

1998 ◽  
Vol 5 (1) ◽  
pp. 22-23 ◽  
Author(s):  
K Õunap ◽  
H Lilleväli ◽  
A Metspalu ◽  
M Lipping-Sitska
Keyword(s):  
Retrospective Study ◽  
Prospective Study ◽  
Newborn Screening ◽  
Filter Paper ◽  
Screening Programme ◽  
European Countries ◽  
Diagnosis And Treatment ◽  
Fluorometric Method ◽  
Live Births ◽  
Ninhydrin Reaction

Objective To develop the phenylketonuria (PKU) screening programme in Estonia. Method All data about patients with PKU, born during 1980–92, were documented to establish its prevalence at birth in Estonia. Newborn screening for the diagnosis and treatment of PKU was started in Estonia in 1993 and the prevalence at birth established by screening. Phenylalanine was determined from filter paper blood by a modified fluorometric method based on enhancement of the fluorescence of a phenylalanine-ninhydrin reaction product by L-leucyl-L-alanine. Results During three years (1993–5) 36 074 newborns (85% of the total) were screened for PKU. PKU was diagnosed in six cases during the first four to six weeks of life. All investigated cases could be classified as classical PKU. No cases of mild forms of hyperphenylalaninaemia were diagnosed. The retrospective study showed an average incidence of PKU of 1 in 8090, the prospective study identified a comparable incidence of 1 in 6010 live births. Conclusion The prevalence at birth of classic PKU in Estonia is higher than the average in Europe and similar to that of some eastern and middle European countries.

scholarly journals Application of Mass Spectrometry in Pancreatic Cancer Translational Research

2021 ◽  
Vol 11 ◽  
Author(s):  
Peng Ge ◽  
Yalan Luo ◽  
Haiyang Chen ◽  
Jiayue Liu ◽  
Haoya Guo ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Pancreatic Cancer ◽  
Malignant Tumors ◽  
Basic Research ◽  
Present Situation ◽  
Diagnosis And Treatment ◽  
Research Model ◽  
Comprehensive Diagnosis ◽  
Remarkable Progress ◽  
Made In

Pancreatic cancer (PC) is one of the most common malignant tumors in the digestive tract worldwide, with increased morbidity and mortality. In recent years, with the development of surgery, chemotherapy, radiotherapy, targeted therapy, and immunotherapy, and the change of the medical thinking model, remarkable progress has been made in researching comprehensive diagnosis and treatment of PC. However, the present situation of diagnostic and treatment of PC is still unsatisfactory. There is an urgent need for academia to fully integrate the basic research and clinical data from PC to form a research model conducive to clinical translation and promote the proper treatment of PC. This paper summarized the translation progress of mass spectrometry (MS) in the pathogenesis, diagnosis, prognosis, and PC treatment to promote the basic research results of PC into clinical diagnosis and treatment.

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