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1-20 of 45
Keywords: Disorders of sex development
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Journal Articles
Sultana M.H. Faradz, Nurin Listyasari, Agustini Utari, Mahayu Dewi Ariani, Achmad Zulfa Juniarto, Ardy Santosa, Annastasia Ediati, Tuula K Rinne, Dineke Westra, Hedi Claahsen-van der Grinten, Frank H de Jong, Stenvert L.S. Drop, Katie Ayers, Andrew Sinclair
Journal:
Sexual Development
Sex Dev (2023) 17 (4-6): 170–180.
Published Online: 12 September 2023
..., instructions or products referred to in the content or advertisements. 2023 Chromosomes Disorders of sex development Genes Indonesia Multidisciplinary team The development of sex and gender requires an intricate interplay of sex chromosomes, genes and genetic pathways, hormones, anatomy...
Journal Articles
Subject Area:
Karger e-Journal Backfile Collection 2023
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Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani, Maki Gau, Ryosei Iemura, Haruki Yamano, Toru Kanamori, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kentaro Okamoto, Tomohiro Udagawa, Kei Takasawa, Tomohiro Morio, Kenichi Kashimada
Journal:
Sexual Development
Sex Dev (2023) 17 (1): 51–55.
Published Online: 02 August 2023
...) domains 1–3 in WT1 are one of the major causes of 46,XY disorders of sex development (DSD). Recently, variants in the fourth ZF (ZF4 variants) were reported to cause 46,XX DSD. However, all the 9 patients reported were de novo, and no familial cases were identified. Case Presentation and Results...
Journal Articles
Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates)
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Karger e-Journal Backfile Collection 2023
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Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Guilherme Guaragna-Filho, Gil Guerra-Junior, Rieko Tadokoro-Cuccaro, Ieuan A. Hughes, Beatriz A. Barros, Olaf Hiort, Antonio Balsamo, Tulay Guran, Paul M. Holterhus, Sabine Hannema, Sukran Poyrazoglu, Feyza Darendeliler, Jillian Bryce, S. Faisal Ahmed, Charmian A. Quigley
Journal:
Sexual Development
Sex Dev (2023) 17 (1): 16–25.
Published Online: 02 August 2023
... of an international registry to evaluate clinical features, surgical management, and pubertal data in patients with a molecularly confirmed diagnosis of PAIS who were born before 2008 and were raised as girls. Methods: The current study interrogated the International Disorders of Sex Development Registry...
Journal Articles
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Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Leticia R. de Oliveira, Carlos A. Longui, Guilherme Guaragna-Filho, José L. da Costa, Rafael Lanaro, Maria I. Chiamolera, Maricilda P. de Mello, André M. Morcillo, Andrea T. Maciel-Guerra, Gil Guerra-Junior
Journal:
Sexual Development
Sex Dev (2022) 16 (4): 266–269.
Published Online: 14 February 2023
... steroidogenesis is crucial in the assessment of patients with 46,XY disorders of sex development (DSD). This study aimed to determine a testosterone (T) cutoff level that indicates an adequate testicular function using LC-MS/MS after stimulation with recombinant human chorionic gonadotropin (rhCG) in a single...
Journal Articles
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Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Julia P. Vicentin, Mayra de Souza El Beck, Carlos W. Germano, Juliana G. R. Andrade, Beatriz A. Barros, Roberto B. de Paive e Silva, Marcio L. Miranda, Nilma L. Viguetti-Campos, Tarsis A. P. Vieira, Tais N. Mazzola, Mara S. Guaragna, Helena Fabbri-Scallet, Maricilda P. Mello, Antonia P. Marques-de-Faria, Andrea T. Maciel-Guerra, Gil Guerra-Junior
Journal:
Sexual Development
Sex Dev (2022) 16 (4): 236–241.
Published Online: 14 February 2023
...-Faria; Andrea T. Maciel-Guerra; Gil Guerra-Junior Introduction: The aim of this retrospective study was to verify the association between the time of diagnosis and initial and final sex assignment in a disorder of sex development (DSD) diagnostic group, looking at the age of the patients at first visit...
Journal Articles
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Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Meilan M. Rutter, Miriam Muscarella, Janet Green, Gnendy Indig, Alexandra von Klan, Kimberly Kennedy, Erica M. Weidler, Margaret Barrett, David E. Sandberg, in collaboration with the DSD-Translational Research Network
Journal:
Sexual Development
Sex Dev (2022) 16 (4): 227–235.
Published Online: 14 February 2023
..., quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2022 Disorders of sex development DSD Advocacy Education Intersex...
Journal Articles
Subject Area:
High Impact Articles in Genetics
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Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2022) 16 (2-3): 80–91.
Published Online: 27 June 2022
... of how testis development is initiated in mammals. With this discovery, an entire family of SOX factors were uncovered that play crucial roles in cell fate decisions during development. The importance of SOX genes in human reproductive development is evident from the various disorders of sex development...
Journal Articles
Subject Area:
Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2021) 15 (5-6): 392–410.
Published Online: 11 October 2021
...Gabby Atlas; Rajini Sreenivasan; Andrew Sinclair Disorders of sex development (DSD) are a complex group of conditions with highly variable clinical phenotypes, most often caused by failure of gonadal development. DSD are estimated to occur in around 1.7% of all live births. Whilst the understanding...
Journal Articles
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Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2022) 16 (2-3): 138–146.
Published Online: 31 August 2021
..., consists of 11 exons, and is 7,817 bp long. Defects in the AMH pathway are the underlying etiology of a subgroup of disorders of sex development (DSD) in 46,XY patients. The condition is known as the persistent müllerian duct syndrome (PMDS), characterized by the existence of a uterus and fallopian tubes...
Journal Articles
Subject Area:
Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Laura Gaspari, Benoit Tessier, Françoise Paris, Anne Bergougnoux, Samir Hamamah, Charles Sultan, Nicolas Kalfa
Journal:
Sexual Development
Sex Dev (2021) 15 (1-3): 213–228.
Published Online: 26 August 2021
... or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Disorders of sex development Endocrine disruptors Environment Hypospadias Micropenis Organic chemicals Penis Pollution Hypospadias is a congenital hypoplasia...
Journal Articles
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Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2020) 13 (5-6): 240–245.
Published Online: 26 September 2020
...Jin-Ho Choi; Yena Lee; Arum Oh; Gu-Hwan Kim; Han-Wook Yoo A GATA4 haploinsufficiency has been well described in patients with congenital heart defects (CHDs), whilst only a few studies have reported mutations related to a 46,XY disorder of sex development (DSD) phenotype. This study investigated...
Journal Articles
Subject Area:
Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Juliana G.R. Andrade, Helena Fabbri-Scallet, Ana P. dos Santos, Martine Cools, Ralf Werner, Olaf Hiort, Maricilda P. de Mello, Gil Guerra-Júnior, Andrea T. Maciel-Guerra
Journal:
Sexual Development
Sex Dev (2020) 13 (4): 171–177.
Published Online: 10 December 2019
... and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Cytogenetics Disorders of sex development Gonadal histology Long-term follow-up Mixed gonadal dysgenesis NR5A1...
Journal Articles
Subject Area:
Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Martine van Zoest, Else M. Bijker, Barbara B.M. Kortmann, Marlies Kempers, Antonius E. van Herwaarden, Janiëlle van der Velden, Hedi L. Claahsen-van der Grinten
Journal:
Sexual Development
Sex Dev (2019) 13 (3): 109–117.
Published Online: 08 August 2019
... be established in this group of individuals with differences/disorders of sex development (DSD). We aimed to evaluate the clinical presentation, sex assignment, and diagnostic workup in these patients. In this retrospective observational study, we included infants who presented with ambiguous genitalia from 2006...
Journal Articles
Subject Area:
Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2019) 13 (2): 55–59.
Published Online: 20 March 2019
... to in the content or advertisements. 5α-reductase-2 deficiency Disorders of sex development Male sex assignment Paternity SRD5A2 5α-reductase-2 deficiency (OMIM #264600) is a rare autosomal recessive form of 46,XY disorders, or differences, of sex development (DSD). It is caused by mutations...
Journal Articles
Subject Area:
Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Rafael S. Yabiku, Mara S. Guaragna, Lizandra M. de Sousa, Helena Fabbri-Scallet, Taís N. Mazzola, Cristiane S.C. Piveta, Marcela L. de Souza, Gil Guerra-Júnior, Maricilda P. de Mello, Andréa T. Maciel-Guerra
Journal:
Sexual Development
Sex Dev (2018) 12 (6): 275–280.
Published Online: 30 October 2018
... (University Hospital) to estimate the frequency of disorders of sex development (DSD) among men who seek medical care because of infertility. The sample included 84 men >20 years of age referred from 2010-2017 due to oligozoospermia or nonobstructive azoospermia of unknown etiology. Twelve cases (14%) were...
Journal Articles
Subject Area:
Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Françoise Paris, Abdelhay Boulahtouf, Nicolas Kalfa, Marie P. Guibal, Laura Gaspari, Nadège Servant, William Bourguet, Charles Sultan, Patrick Balaguer
Journal:
Sexual Development
Sex Dev (2018) 12 (5): 218–224.
Published Online: 04 October 2018
...Françoise Paris; Abdelhay Boulahtouf; Nicolas Kalfa; Marie P. Guibal; Laura Gaspari; Nadège Servant; William Bourguet; Charles Sultan; Patrick Balaguer Mutations of the androgen receptor ( AR ) gene are the most frequent cause of 46,XY disorders of sex development. They are associated...
Journal Articles
Subject Area:
Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2018) 12 (5): 239–243.
Published Online: 21 July 2018
..., instructions or products referred to in the content or advertisements. 46,XY gonadal dysgenesis Disorders of sex development FANCA Fanconi anemia Fanconi anemia (FA), first reported in 1927 by the Swiss pediatrician Guido Fanconi [Fanconi, 1927], is a rare (0.1-0.5/100,000 newborn) autosomal...
Journal Articles
Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development
Subject Area:
Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Journal:
Sexual Development
Sex Dev (2018) 12 (5): 211–217.
Published Online: 14 July 2018
...Inas M. Mazen; Mona K. Mekkawy; Hanan M. Ibrahim; Alaa K. Kamel; Rasha T. Hamza; Aya A. Elaidy Disorders of sex development (DSD) are conditions with an abnormal development of chromosomal, gonadal, or anatomical sex. Sex chromosome DSD involve conditions associated with either numerical...
Journal Articles
Subject Area:
Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Caroline Sanders, Joanne Hall, Caroline Sanders, Arianne Dessens, Jillian Bryce, Nina Callens, Martine Cools, Mariam Kourime, Andreas Kyriakou, Alexander Springer, Laura Audi, Antonio Balsamo, Violeta Iotova, Vilhelm Mladenov, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Hedi Claahsen-van der Grinten, Olaf Hiort, Stefan Riedl, S. Faisal Ahmed
Journal:
Sexual Development
Sex Dev (2018) 12 (5): 225–231.
Published Online: 23 June 2018
... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Communication Disorders of sex development Research Support group Conditions affecting sex development are a group of rare disorders that are often manifested...
Journal Articles
Subject Area:
Endocrinology
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Further Areas
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Genetics
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Pathology and Cell Biology
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Women's and Children's Health
Flaminia Fanelli, Federico Baronio, Rita Ortolano, Marco Mezzullo, Alessandra Cassio, Uberto Pagotto, Antonio Balsamo
Journal:
Sexual Development
Sex Dev (2018) 12 (1-3): 50–94.
Published Online: 14 February 2018
... when faced with rare conditions, such as disorders of sex development, where not routinely assayed peptide hormones as well as intermediate steroid metabolites are often needed and local reliable reference values are not available. There are considerable differences among techniques and assays used...
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