Results 41 to 50 of about 971 (183)

Ovotesticular Disorder of Sex Development: An Unusual Presentation

Journal of Clinical Imaging Science, 2019
Disorder of sex development is an inclusive term that refers to any problem where the genital organ is atypical in relation to chromosomes or gonads. Ovotesticular disorder of sex development, which is formerly known as “true hermaphroditism,” is the most rare form among all disorders of sex development in humans.
Özdemir, Meltem, Kavak, Rasime Pelin, Yalcinkaya, Ihsan, Guresci, Kursat   +3 more
openaire   +2 more sources

Laparoscopic approach for gonadectomy in pediatric patients with intersex disorders [PDF]

, 2016
The birth of a child with a disorder of sex development (DSD) prompts a long-term management strategy that involves a myriad of professionals working with the family.
Calvo, Andres, Caprio, Maria Grazia, ESCOLINO, MARIA, ESPOSITO, CIRO, Roberti, Agnese, SETTIMI, ALESSANDRO   +5 more
core   +1 more source

What Does AMH Tell Us in Pediatric Disorders of Sex Development?

Frontiers in Endocrinology, 2020
Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or internal/external genital sexes are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. Anti-Müllerian hormone (AMH),
Nathalie Josso, Rodolfo A. Rey
doaj   +1 more source

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development [PDF]

, 2016
Cell lineages of the early human gonad commit to one of the two mutually antagonistic organogenetic fates, the testis or the ovary. Some individuals with a 46,XX karyotype develop testes or ovotestes (testicular or ovotesticular disorder of sex ...
Achermann, JC, Balasubramanyam, A, Barseghyan, H, Bashamboo, A, Bignon-Topalovic, J, Bingham, N, Buonocore, F, Burrage, L, Calvel, P, de Silva, K, Dhar, S, Donohoue, PA, Dumargne, MC, Eozenou, C, Jain, M, Lagos, CF, Lee, B, Lin, L, McElreavey, K, Members of UDN, ., Mulukutla, SN, Poulat, F, Rojo, S, Rosenfeld, JA, Seneviratne, SN, Suntharalingham, JP, Vilain, E   +26 more
core   +2 more sources

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1 [PDF]

, 2013
Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in the human population.
Amorim, Antonio, Aston, Kenneth I., Barros, Alberto, Carracedo, A., Carrell, D.T., Carvalho, Filipa, Conrad, D.F., Dai, Juncheng, Downie, Jonathan, Fernandes, Susana, Gonçalves, João, Guo, Xuejiang, Hu, Z., Huang, N., Hurles, M.E., Lopes, Alexandra, Matthiesen, Rune, Moskovtsev, S., Noordam, Michiel J., Ober, C., Paduch, D.A., Quintela, Ines, Ramu, Avinash, Schiffman, J.D., Schlegel, P.N., Seabra, Catarina, Shah, Jiahao, Sousa, M., Thompson, Emma E, Wilfert, Amy B.   +29 more
core   +7 more sources

Ovotesticular Disorder of Sex Development with Normal Karyotype: A Rare Case Report

Saudi Journal of Pathology and Microbiology, 2022
Ovotesticular disorder of sex development (DSD) refers to the co-presence of testicular and ovarian tissue in one individual. Here we report a case of Ovotesticular Disorder of Sex Development in a 42 years old male, presented with abdominal mass and undescended testes who had a normal karyotype.
Reddy Purushotham, Vernekar Sunita, Choukimath S. M, Bhavikatti Bharati, Dr. Abhisha RS   +4 more
openaire   +1 more source

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

Molecular Genetics &Genomic Medicine, Volume 8, Issue 3, March 2020., 2020
We identified a number of 46,XY DSD individuals with variants in GATA4 and FOG2. Variant curation and functional analysis revealed the majority of these variants are not likely to be causative. Abstract Background GATA‐binding protein 4 (GATA4) and Friend of GATA 2 protein (FOG2, also known as ZFPM2) form a heterodimer complex that has been shown to ...
Jocelyn A. van den Bergen, Gorjana Robevska, Stefanie Eggers, Stefan Riedl, Sonia R. Grover, Philip B. Bergman, Chris Kimber, Ashish Jiwane, Sophy Khan, Csilla Krausz, Jamal Raza, Irum Atta, Susan R. Davis, Makato Ono, Vincent Harley, Sultana M. H. Faradz, Andrew H. Sinclair, Katie L. Ayers   +17 more
wiley   +1 more source

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development [PDF]

, 2017
Objective: Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown.
Ahmed, S. Faisal, Bryce, Jillian, Dessens, Arianne, Ediati, Annastasia, Guaragna-Filho, Guilherme, Hiort, Olaf, Iotova, Violeta, Juul, Anders, Krawczynski, Maciej, Kyriakou, Andreas, Nordenskjöld, Agneta, Rozas, Marta, Sanders, Caroline   +12 more
core   +7 more sources

46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma

Medicine, 2020
Ovotesticular disorder of sex development (DSD), previously known as true hermaphroditism, is a disorder in which individuals have both testicular and ovarian tissues. Instances of tumors arising in the gonads of individuals with 46,XX ovotesticular DSD are uncommon.We report a case of a 36-year-old phenotypical male with a chief complaint of an ...
Li, Zixiang, Liu, Junjie, Peng, Yunpeng, Chen, Renfu, Ge, Peng, Wang, Junqi   +5 more
openaire   +2 more sources

SAT395 Gender Dysphoria In A Patient With Ovotesticular Disorder Of Sex Development

Journal of the Endocrine Society, 2023
Abstract Disclosure: T. Moreno: None. P. Rodrigues: None. S. Ribeiro: None. D.M. Carvalho: None. Introduction: Ovotesticular disorder of sex development (OT-DSD) is a rare condition characterized by the presence of both ovarian and testicular tissue in the gonads.
Moreno, Telma, Rodrigues, Pedro, Ribeiro, Sara, Carvalho, Davide M   +3 more
openaire   +1 more source