Results 11 to 20 of about 9,016 (186)

Ten cases with 46,XX testicular disorder of sex development: single center experience [PDF]

International Brazilian Journal of Urology, 2017
Objective To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic.
Emre Can Akinsal, Numan Baydilli, Abdullah Demirtas, Cetin Saatci, Oguz Ekmekcioglu   +4 more
doaj   +5 more sources

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development [PDF]

Genetics in Medicine, 2017
Purpose: We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD).
Elfride De Baere, Peelman, F, De Baere, Elfride, Todeschini, A.-L. (Anne-Laure), Frank Peelman, Reiner A. Veitia, Looijenga, Leendert, Toon Rosseel, Veitia, RA, Coppieters, F. (Frauke), Cools, Martine, Baetens, D. (Dorien), Hans Stoop, Martine Cools, Veitia, Reiner, Looijenga, L.H.J. (Leendert), Cools, M.B.C.M. (Martine), Todeschini, Anne-Laure, Coppieters, Frauke, Stoop, J.A. (Hans), Dorien Baetens, Baetens, D, Peelman, F. (Frank), Anne-Laure Todeschini, Leendert H.J. Looijenga, Looijenga, LHJ (Leendert), Peelman, Frank, Todeschini, AL, De Baere, E, Coppieters, F, Rosseel, T. (Toon), Frauke Coppieters, Rosseel, Toon, Veitia, R.A., Stoop, Hans, Rosseel, T, Baetens, Dorien, De Baere, E. (Elfride), Cools, M   +38 more
core   +4 more sources

46,XX Testicular Disorders of Sex Development: Case Report

Педиатрическая фармакология
Background. The article presents a rare case report of sex development disorder (DSDs, 46-XX-male), demonstrating the need for timely diagnosis, conservative and surgical treatment, and emphasizes the importance of a multidisciplinary approach.
Elena V. Sibirskaya, Irina V. Karachentsova, Aina S. Annakulieva, Tamara N. Ivanovskaya, Yuliya A. Kirillova, Irina A. Melenchuk, Alena A. Kovaleva   +6 more
doaj   +2 more sources

46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review [PDF]

Medicina, 2019
Background and objectives: XX male syndrome is part of the disorders of sex development (DSD). The patients generally have normal external genitalia and discover their pathology in adulthood because of infertility.
Marco Terribile, Marco Stizzo, Celeste Manfredi, Carmelo Quattrone, Francesco Bottone, Dario Ranieri Giordano, Giuseppe Bellastella, Davide Arcaniolo, Marco De Sio   +8 more
doaj   +3 more sources

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development

Biomolecules, 2023
Gonadal development is the first step in human reproduction. Aberrant gonadal development during the fetal period is a major cause of disorders/differences of sex development (DSD).
Atsushi Hattori, Maki Fukami
doaj   +2 more sources

Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype

Urology Case Reports, 2016
Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development.
Russell E.N. Becker, Ardavan Akhavan
doaj   +2 more sources

Ovotesticular disorders of sex development with dysgerminoma in a 46, XX/46, XY female: A case report

Gynecologic Oncology Reports
The diagnosis of ovotesticular disorders of sex development can only be confirmed when both testicular and ovarian tissues are present simultaneously in the same individual, regardless of the patient’s karyotype. This report aims to discuss the diagnosis
Yafei Xue, Shuqi Zuo, Min Cui, Xingbo Zhao, Xiaoyi Qi   +4 more
doaj   +3 more sources

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development

Frontiers in Endocrinology
Prenatal-onset androgen excess leads to abnormal sexual development in 46,XX individuals. This androgen excess can be caused endogenously by the adrenals or gonads or by exposure to exogenous androgens.
Zehra Yavas Abalı, Tulay Guran
doaj   +3 more sources

NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients. [PDF]

Hum Mutat, 2019
Several recent reports have described a missense variant in the gene NR5A1 (c.274C>T; p.Arg92Trp) in a significant number of 46,XX ovotesticular or testicular disorders of sex development (DSDs) cases.
Knarston IM, Robevska G, van den Bergen JA, Eggers S, Croft B, Yates J, Hersmus R, Looijenga LHJ, Cameron FJ, Monhike K, Ayers KL, Sinclair AH.   +11 more
europepmc   +4 more sources

Childhood Sex-Typed Behavior and Gender Change in Individuals with 46,XY and 46,XX Disorders of Sex Development: An Iranian Multicenter Study

Archives of Sexual Behavior, 2018
Disorders of sex development (DSD) are congenital conditions in which the typical genetic and hormonal profiles are affected and thereby the usual process of sexual differentiation. Most of these studies, however, have been conducted in Western countries.
Afkhamizadeh, Mozhgan, Dastmalchi, Samira, Khorashad, Behzad S., Abbaszadegan, Mohammad Reza, Roshan, Ghasem M., Talaei, Ali, Ghaemi, Nosrat, Reid, Alistair G., Khazai, Behnaz, Aghili, Zahra, Hiradfar, Mehran, van de Grift, Tim C., Moghadam, Maliheh Dadgar, Aarabi, Azadeh   +13 more
core   +4 more sources