Search Results
Search for other papers by R Walia in
Google Scholar
PubMed
Search for other papers by M Singla in
Google Scholar
PubMed
Search for other papers by K Vaiphei in
Google Scholar
PubMed
Search for other papers by S Kumar in
Google Scholar
PubMed
Search for other papers by A Bhansali in
Google Scholar
PubMed
Introduction Disorder of sex development (DSD) is defined as congenital condition in which the development of chromosomal, gonadal or anatomic sex is atypical ( 1 ). The incidence of DSD is 1:4500 to 1:5000 live births ( 2 , 3 ). It is a
The Rappaport Faculty of Medicine, Technion, Haifa, Israel
Search for other papers by Yardena Tenenbaum-Rakover in
Google Scholar
PubMed
Search for other papers by Osnat Admoni in
Google Scholar
PubMed
The Rappaport Faculty of Medicine, Technion, Haifa, Israel
Search for other papers by Ghadir Elias-Assad in
Google Scholar
PubMed
Search for other papers by Shira London in
Google Scholar
PubMed
The Azrieli Faculty of Medicine, Bar-Ilan, Safed, Israel
Search for other papers by Marie Noufi-Barhoum in
Google Scholar
PubMed
Search for other papers by Hanna Ludar in
Google Scholar
PubMed
Search for other papers by Tal Almagor in
Google Scholar
PubMed
Search for other papers by Yoav Zehavi in
Google Scholar
PubMed
Search for other papers by Charles Sultan in
Google Scholar
PubMed
Search for other papers by Rita Bertalan in
Google Scholar
PubMed
Search for other papers by Anu Bashamboo in
Google Scholar
PubMed
Search for other papers by Kenneth McElreavey in
Google Scholar
PubMed
Introduction Disorders of sex development (DSD) are classified as a congenital discrepancy between external genitalia and gonadal and chromosomal sex ( 1 ). The prevalence of DSD, including hypospadias, is estimated at 5 out of 1000 newborns
Search for other papers by Luigi Laino in
Google Scholar
PubMed
Search for other papers by Silvia Majore in
Google Scholar
PubMed
Search for other papers by Nicoletta Preziosi in
Google Scholar
PubMed
Search for other papers by Barbara Grammatico in
Google Scholar
PubMed
Search for other papers by Carmelilia De Bernardo in
Google Scholar
PubMed
Search for other papers by Salvatore Scommegna in
Google Scholar
PubMed
Search for other papers by Anna Maria Rapone in
Google Scholar
PubMed
Search for other papers by Giacinto Marrocco in
Google Scholar
PubMed
Search for other papers by Irene Bottillo in
Google Scholar
PubMed
Search for other papers by Paola Grammatico in
Google Scholar
PubMed
signals that specify sex-specific development of sex organs or endocrine function. The term disorders of sex development (DSD) embraces all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex (1) . Thus, a wide
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
Search for other papers by E Kohva in
Google Scholar
PubMed
Search for other papers by P J Miettinen in
Google Scholar
PubMed
Department of Pediatric Surgery, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Search for other papers by S Taskinen in
Google Scholar
PubMed
Search for other papers by M Hero in
Google Scholar
PubMed
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
Search for other papers by A Tarkkanen in
Google Scholar
PubMed
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
Search for other papers by T Raivio in
Google Scholar
PubMed
. ( https://doi.org/10.1016/j.jpurol.2006.03.004 ) 10.1016/j.jpurol.2006.03.004 18947601 2 Hutson JM Grover SR O’Connell M Pennell SD. Malformation syndromes associated with disorders of sex development . Nature Reviews Endocrinology 2014 10 476
Search for other papers by Zofia Kolesinska in
Google Scholar
PubMed
Search for other papers by James Acierno Jr in
Google Scholar
PubMed
Search for other papers by S Faisal Ahmed in
Google Scholar
PubMed
Search for other papers by Cheng Xu in
Google Scholar
PubMed
Search for other papers by Karina Kapczuk in
Google Scholar
PubMed
Search for other papers by Anna Skorczyk-Werner in
Google Scholar
PubMed
Search for other papers by Hanna Mikos in
Google Scholar
PubMed
Search for other papers by Aleksandra Rojek in
Google Scholar
PubMed
Search for other papers by Andreas Massouras in
Google Scholar
PubMed
Search for other papers by Maciej R Krawczynski in
Google Scholar
PubMed
Search for other papers by Nelly Pitteloud in
Google Scholar
PubMed
Search for other papers by Marek Niedziela in
Google Scholar
PubMed
Introduction Differences and/or disorders of sex development (DSD) represent rare congenital conditions in which gonadal, chromosomal or anatomical sex is atypical. Due to its heterogeneous clinical presentation and genetic architecture
Department of Pediatrics, Federal University of Uberlandia (UFU), Uberlandia, Minas Gerais, Brazil
Search for other papers by Letícia Ribeiro Oliveira in
Google Scholar
PubMed
Search for other papers by Carlos Alberto Longui in
Google Scholar
PubMed
Department of Pediatrics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil
Search for other papers by Guilherme Guaragna-Filho in
Google Scholar
PubMed
Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil
Search for other papers by José Luiz Costa in
Google Scholar
PubMed
Search for other papers by Rafael Lanaro in
Google Scholar
PubMed
Search for other papers by David Antônio Silva in
Google Scholar
PubMed
Search for other papers by Maria Izabel Chiamolera in
Google Scholar
PubMed
Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetics Engineering (CBMEG), UNICAMP, Campinas, Sao Paulo, Brazil
Search for other papers by Maricilda Palandi de Mello in
Google Scholar
PubMed
Search for other papers by André Moreno Morcillo in
Google Scholar
PubMed
Department of Medical Genetics and Genomic Medicine, FCM, UNICAMP, Campinas, Sao Paulo, Brazil
Search for other papers by Andrea Trevas Maciel-Guerra in
Google Scholar
PubMed
Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil
Search for other papers by Gil Guerra-Junior in
Google Scholar
PubMed
Introduction The determination of steroid hormone concentration, which is part of the initial approach in the diagnosis of disorders of sex development (DSD), is one of the challenges in pediatric endocrinology ( 1 , 2 , 3 ). Based on the
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Search for other papers by Henrik Falhammar in
Google Scholar
PubMed
Search for other papers by Hedi Claahsen-van der Grinten in
Google Scholar
PubMed
Search for other papers by Nicole Reisch in
Google Scholar
PubMed
Search for other papers by Jolanta Slowikowska-Hilczer in
Google Scholar
PubMed
Department of Paediatric Endocrinology, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden
Search for other papers by Anna Nordenström in
Google Scholar
PubMed
Search for other papers by Robert Roehle in
Google Scholar
PubMed
Department of Pediatric Endocrinology, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France
Search for other papers by Claire Bouvattier in
Google Scholar
PubMed
Search for other papers by Baudewijntje P C Kreukels in
Google Scholar
PubMed
Search for other papers by Birgit Köhler in
Google Scholar
PubMed
Search for other papers by on behalf of the dsd-LIFE group in
Google Scholar
PubMed
Introduction Disorders of sex development (DSD) are characterized by incongruence of chromosomal, gonadal and genital sex development, and in some conditions, impaired adrenal function. DSD can be divided into three major groups: DSD with
Search for other papers by Yijun Tang in
Google Scholar
PubMed
Search for other papers by Yao Chen in
Google Scholar
PubMed
Search for other papers by Jiayi Wang in
Google Scholar
PubMed
Search for other papers by Qianwen Zhang in
Google Scholar
PubMed
Search for other papers by Yirou Wang in
Google Scholar
PubMed
Search for other papers by Yufei Xu in
Google Scholar
PubMed
Search for other papers by Xin Li in
Google Scholar
PubMed
Search for other papers by Jian Wang in
Google Scholar
PubMed
Search for other papers by Xiumin Wang in
Google Scholar
PubMed
Introduction Disorder of sex development (DSD) is a general term for diseases with inconsistencies between chromosomal karyotypes, external genitalia, and gonadal development ( 1 ). According to the DSD etiology classification defined in the
Search for other papers by L A Hughes in
Google Scholar
PubMed
Search for other papers by K McKay-Bounford in
Google Scholar
PubMed
Search for other papers by E A Webb in
Google Scholar
PubMed
Search for other papers by P Dasani in
Google Scholar
PubMed
Search for other papers by S Clokie in
Google Scholar
PubMed
Search for other papers by H Chandran in
Google Scholar
PubMed
Search for other papers by L McCarthy in
Google Scholar
PubMed
Search for other papers by Z Mohamed in
Google Scholar
PubMed
Search for other papers by J M W Kirk in
Google Scholar
PubMed
Search for other papers by N P Krone in
Google Scholar
PubMed
Search for other papers by S Allen in
Google Scholar
PubMed
Search for other papers by T R P Cole in
Google Scholar
PubMed
Introduction Disorders of sex development (DSD) encompass a wide range of conditions with diverse clinical features, pathophysiology and clinical management ( 1 , 2 , 3 ). The recently revised stratified DSD diagnostic pathway consists of
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Search for other papers by Luca Persani in
Google Scholar
PubMed
Search for other papers by Martine Cools in
Google Scholar
PubMed
Search for other papers by Stamatina Ioakim in
Google Scholar
PubMed
Search for other papers by S Faisal Ahmed in
Google Scholar
PubMed
Search for other papers by Silvia Andonova in
Google Scholar
PubMed
Search for other papers by Magdalena Avbelj-Stefanija in
Google Scholar
PubMed
Search for other papers by Federico Baronio in
Google Scholar
PubMed
Search for other papers by Jerome Bouligand in
Google Scholar
PubMed
Search for other papers by Hennie T Bruggenwirth in
Google Scholar
PubMed
Search for other papers by Justin H Davies in
Google Scholar
PubMed
Search for other papers by Elfride De Baere in
Google Scholar
PubMed
Search for other papers by Iveta Dzivite-Krisane in
Google Scholar
PubMed
Search for other papers by Paula Fernandez-Alvarez in
Google Scholar
PubMed
Search for other papers by Alexander Gheldof in
Google Scholar
PubMed
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by Claudia Giavoli in
Google Scholar
PubMed
Search for other papers by Claus H Gravholt in
Google Scholar
PubMed
Search for other papers by Olaf Hiort in
Google Scholar
PubMed
Search for other papers by Paul-Martin Holterhus in
Google Scholar
PubMed
Search for other papers by Anders Juul in
Google Scholar
PubMed
Search for other papers by Csilla Krausz in
Google Scholar
PubMed
Search for other papers by Kristina Lagerstedt-Robinson in
Google Scholar
PubMed
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
Search for other papers by Ruth McGowan in
Google Scholar
PubMed
Search for other papers by Uta Neumann in
Google Scholar
PubMed
Search for other papers by Antonio Novelli in
Google Scholar
PubMed
Search for other papers by Xavier Peyrassol in
Google Scholar
PubMed
Search for other papers by Leonidas A Phylactou in
Google Scholar
PubMed
Search for other papers by Julia Rohayem in
Google Scholar
PubMed
Search for other papers by Philippe Touraine in
Google Scholar
PubMed
Search for other papers by Dineke Westra in
Google Scholar
PubMed
Search for other papers by Valeria Vezzoli in
Google Scholar
PubMed
Search for other papers by Raffaella Rossetti in
Google Scholar
PubMed
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovarian insufficiency, and 2956 (44%) with congenital hypogonadotropic hypogonadism (CHH). The approaches varied from targeted analysis of custom gene panels (range: 11–490 genes) in 81.5% of cases or whole exome sequencing with the extraction of a virtual panel in the remaining cases. These analyses were performed for diagnostic purposes in 21 HCPs, supported by the National Health Systems in 16 cases. The likelihood of finding a variant ranged between 7 and 60%, mainly depending upon the number of analysed genes or criteria used for reporting, most HCPs also reporting variants of uncertain significance. These data illustrate the status of genetic diagnosis of DSD and CHH across Europe. In most countries, these analyses are performed for diagnostic purposes, yielding highly variable results, thus suggesting the need for harmonization and general improvements of NGS approaches.