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Sneha Arya, Sandeep Kumar, Anurag R Lila, Vijaya Sarathi, Saba Samad Memon, Rohit Barnabas, Hemangini Thakkar, Virendra A Patil, Nalini S Shah, and Tushar R Bandgar

risk in exonic WT1 pathogenic variants is sparse ( 8 ). In this study, we describe the phenotypic and genotypic spectrum of WT1 pathogenic variants from a large cohort of Asian–Indian 46,XY DSD. Additionally, a systematic literature review was done

Open access

R Walia, M Singla, K Vaiphei, S Kumar, and A Bhansali

with the parents and the patients. Results Out of the 194 patients, 102 had 46,XY DSD and 74 patients had 46,XX DSD. Sex chromosome DSD was identified in seven patients. In 11 patients, the etiological diagnosis could not be made. The various

Open access

Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud, and Marek Niedziela

improved the diagnostic yield ( 6 , 9 ). While whole-exome and/or genome sequencing (WES/WGS) are still reserved for the research environment, targeted gene panels are becoming widely used in the diagnostic algorithms of 46,XY DSD on a routine basis ( 10

Open access

E Kohva, P J Miettinen, S Taskinen, M Hero, A Tarkkanen, and T Raivio

chromosome DSD, 46,XY DSD and 46,XX DSD ( 1 ). The phenotypic spectrum of DSD is wide, and it can manifest as a complete sex reversal, a solitary genital abnormality or it can be a part of a syndrome affecting other organ systems ( 2 ). The etiology of DSD is

Open access

L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen, and T R P Cole

diagnostic yield and clinical utility in predominantly 46,XY DSD cohorts using panels of 64–219 genes. We present our data showing sequence analysis of a cohort of 80 DSD patients using a 30-gene panel. Materials and methods Patients Eighty

Open access

Letícia Ribeiro Oliveira, Carlos Alberto Longui, Guilherme Guaragna-Filho, José Luiz Costa, Rafael Lanaro, David Antônio Silva, Maria Izabel Chiamolera, Maricilda Palandi de Mello, André Moreno Morcillo, Andrea Trevas Maciel-Guerra, and Gil Guerra-Junior

with DSD ( 2 ). One of the most important challenge is the measurement of testosterone concentration ( 9 , 10 ), especially in the investigation of 46,XY DSD cases. DSD are congenital conditions in which chromosomal, gonadal or anatomical sex is

Open access

Henrik Falhammar, Hedi Claahsen-van der Grinten, Nicole Reisch, Jolanta Slowikowska-Hilczer, Anna Nordenström, Robert Roehle, Claire Bouvattier, Baudewijntje P C Kreukels, Birgit Köhler, and on behalf of the dsd-LIFE group

atypical sex chromosome configurations such as Turner syndrome (TS), Klinefelter syndrome (KS), 45,X/46,XY and 46,XX/46,XY; XY-DSD characterized by impairment of testicular development, androgen biosynthesis or action or severe hypospadias of unknown origin

Open access

Marie Lindhardt Ljubicic, Trine Holm Johannsen, Margit Bistrup Fischer, Emmie N Upners, Alexander S Busch, Katharina M Main, Anna-Maria Andersson, Casper P Hagen, and Anders Juul

): Klinefelter syndrome including variants ( n  = 29), congenital adrenal hyperplasia (CAH, classical n  = 14; non-classical n  = 2), 45,X/46,XY mosaicism ( n  = 15), idiopathic 46,XY DSD ( n  = 8), Turner syndrome including mosaic variants ( SRY negative) ( n

Open access

Angelica Lindén Hirschberg

. Individuals with DSD have a varying risk of developing germ cell cancer (GCC). The characteristic features of 46,XY DSD conditions, described in detail elsewhere ( 30 , 32 , 31 ), are presented briefly. Table 1 Examples of 46,XY differences

Open access

Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, and Raffaella Rossetti

the differences of sex development (DSD), that are generally associated with phenotypical manifestations incongruent with chromosomal sex (46,XY DSD and 46,XX DSD), and those associated with absent/delayed puberty due to congenital hypogonadotropic