Results 11 to 20 of about 463,913 (214)

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review

Frontiers in Pediatrics, 2021
Background: Very few reports are available on human XX ovotesticular disorder of sex development involving SOX3 gene duplication. Here we aim to present a rare case of SOX3 gene duplication in a person from the Chinese population who exhibits XX ...
Jianlong Zhuang, Chunnuan Chen, Jia Li, Yuying Jiang, Junyu Wang, Yuanbai Wang, Shuhong Zeng, Yiming Lin, Yingjun Xie, Yingjun Xie   +9 more
doaj   +1 more source

Vaginoplasty for Disorders of Sex Development [PDF]

Frontiers in Endocrinology, 2013
One of the most common problem found in patients with Disorders of Sexual Developments is the absence or extreme hypoplasia of the vagina. The type of patients presenting this anomaly may belong to completely different groups: (1) Patients with a urogenital sinus with urethra and vagina fusing together to form a common channel. (2) Patients with absent
Nino Guarino, Salvatore Scommegna, Silvia Majore, Anna Maria Rapone, Luciana Ungaro, Aldo Morrone, GRAMMATICO, Paola, Giacinto A. Marrocco   +7 more
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Disorders of Sex Development

, 2020
Disorders of Sex Development includes a range of conditions where there may be genital ambiguity at birth or becomes evident later in childhood. It occurs as a result of errors in development of external and internal genital structures. The diagnosis and management of these conditions requires a multidisciplinary approach with shared decision making ...
Chan, Yee Ming, Hannema, SE, Achermann, John, Hughes, Ieuan A.   +3 more
  +8 more sources

Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development

JCRPE, 2021
Objective:The aim of this study was to assess the quality of life (QoL) and psychological well-being in child and adolescent with disorders of sex development (DSD).Methods:Sixty-two cases, aged 2-18 years, who were followed by a multidisciplinary DSD ...
Birsen Şentürk Pilan, Burcu Özbaran, Didem Çelik, Tuğçe Özcan, Samim Özen, Damla Gökşen, İbrahim Ulman, Ali Avanoğlu, Sibel Tiryaki, Hüseyin Onay, Özgür Çoğulu, Ferda Özkınay, Şükran Darcan   +12 more
doaj   +1 more source

5‐Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family

Clinical Case Reports, 2023
Key clinical message 5‐Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome.
Samaneh Noroozi Asl, Reza Ibrahimi, Sepideh Bagheri, Mojtaba Lotfi   +3 more
doaj   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin

JCRPE, 2021
We describe a 46,XX girl with Denys-Drash syndrome, showing both kidney disease and genital abnormalities, in whom a misdiagnosis of hyperandrogenism was made.
Carla Bizzarri, Germana Antonella Giannone, Jacopo Gervasoni, Sabina Benedetti, Federica Albanese, Luca Dello Strologo, Isabella Guzzo, Mafalda Mucciolo, Francesca Diomedi Camassei, Francesco Emma, Marco Cappa, Ottavia Porzio   +11 more
doaj   +1 more source

A comparison of the development of audiovisual integration in children with autism spectrum disorders and typically developing children [PDF]

, 2010
This study aimed to investigate the development of audiovisual integration in children with Autism Spectrum Disorder (ASD). Audiovisual integration was measured using the McGurk effect in children with ASD aged 7–16 years and typically developing ...
A Karmiloff-Smith, A Karmiloff-Smith, APA, B Gelder de, BG Tabachnick, C Tremblay, Claire Isaac, D Massaro, E Schopler, E Smith, EA Mongillo, Elizabeth Milne, G Iarocci, G Rippon, GA Calvert, GA Calvert, H McGurk, J Bebko, J Raven, J Williams, J Williams, JA Burack, JM Kilner, K Sekiyama, L Mottron, LM Dunn, M Bohning, M Rutter, M Smagt van der, MSC Thomas, Natalie Taylor, NS Hockley, S Dupont   +32 more
core   +1 more source

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2019
Purpose Patients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia.
Yoon Myung Kim, Arum Oh, Kun-Suk Kim, Han-Wook Yoo, Jin-Ho Choi   +4 more
doaj   +1 more source

Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series

BMC Urology, 2017
Background The aim of this study is to review and present the clinical features and process of evaluation and treatment for OT-DSD in a single center in recent years in China.
Yu Mao, Shaoji Chen, Ru Wang, Xuejun Wang, Daorui Qin, Yunman Tang   +5 more
doaj   +1 more source