Results 11 to 20 of about 169,144,440 (149)

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

International Brazilian Journal of Urology
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   +2 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   +5 more sources

Disorders of sex development: a study of 194 cases

Endocrine Connections, 2018
Objective: To study the clinical profile and the management of patients with disorders of sex development (DSD). Design and setting: Retrospective study from a tertiary care hospital of North India.
R Walia, M Singla, K Vaiphei, S Kumar, A Bhansali   +4 more
doaj   +2 more sources

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals [PDF]

, 2012
Steroidogenic factor-1 (SF-1/NR5A1) is a nuclear receptor that regulates adrenal and reproductive development and function. NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal ...
Muñoz, M. T., Nistal, M., Camats Tarruella, Núria, Torán, N., Flück Pandey, Christa Emma, Fernández-Cancio, M., Carrascosa, A., Pandey, Amit Vikram, Bereket, A., Janner, Marco, Akcay, T., García-García, E., Moreno, F., Castaño, L., Andaluz, P., Audí, L., Mullis, Primus-Eugen, Gracia, R.   +17 more
core   +3 more sources

Disorders of sex development: challenges for the future [PDF]

, 2012
No abstract ...
Sarafoglou, Kyriakie, Ahmed, S. Faisal
core   +1 more source

Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review

BMC Medical Genomics, 2022
Background 46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue differentiation may be due to translocation of SRY to the X chromosome or an autosome. SRY-negative 46,XX males show overexpression of pro-testis
Jiansheng Wei, Changrong Liu, Minyan Zhang, Shen Liu, Junjie Fu, Peng Lin   +5 more
doaj   +1 more source

Towards a virtual research environment for paediatric endocrinology across Europe [PDF]

, 2009
Paediatric endocrinology is a medical specialty dealing with variations of physical growth and sexual development in childhood. Genetic anomalies that can cause disorders of sexual development in children are rare.
Jiang, J., John Watt, Watt, J., Anthony Stell, Watt, J, Ahmed, F., Jiang, J, Sinnott, R, Jipu Jiang, Richard Sinnott, Sinnott, R.O., Stell, A, Stell, A., Faisal Ahmed, Ahmed, F   +14 more
core   +1 more source

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

, 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   +2 more sources

FGF9 and WNT4 act as antagonistic signals to regulate mammalian sex determination [PDF]

, 2006
The genes encoding members of the wingless-related MMTV integration site (WNT) and fibroblast growth factor (FGF) families coordinate growth, morphogenesis, and differentiation in many fields of cells during development.
Robin Lovell-Badge, Sekido, R, Behringer, Richard R, Capel, Blanche, Lovell-Badge, R, DiNapoli, Leo, Blanche Capel, Chaboissier, Marie-Christine, Behringer Richard R, Lovell-Badge, Robin, DiNapoli Leo, Poulat Francis, Behringer, RR, Kim Yuna, Kobayashi, Akio, Poulat, F, Behringer, Richard,, Behringer, Richard, R., Brennan, J, Chaboissier, M-C, Capel, B, Leo DiNapoli, Ryohei Sekido, Kim, Y, Kim, Yuna, Yuna Kim, Marie-Christine Chaboissier, Francis Poulat, Jennifer Brennan, Lovell-Badge Robin, Akio Kobayashi, Kobayashi Akio, DiNapoli, L, Brennan Jennifer, Capel Blanche, Kobayashi, A, Brennan, Jennifer, Richard R Behringer, Poulat, Francis, Chaboissier Marie-Christine, Sekido, Ryohei, Sekido Ryohei   +41 more
core   +1 more source

A Korean boy with 46,XX testicular disorder of sex development caused by duplication [PDF]

, 2014
The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male.
Gyung Min Lee, Sei Won Yang, Choong Ho Shin, Jung Min Ko   +3 more
core   +1 more source