Results 81 to 90 of about 9,016 (186)

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

BMC Medical Genetics, 2012
Background The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)).
Hersmus Remko, Stoop Hans, Turbitt Erin, Oosterhuis J, Drop Stenvert LS, Sinclair Andrew H, White Stefan J, Looijenga Leendert HJ   +7 more
doaj   +1 more source

Disorders of sex development: timing of diagnosis and management in a single large tertiary center [PDF]

, 2018
Background: We describe the phenotypic spectrum and timing of diagnosis and management in a large series of patients with disorders of sexual development (DSD) treated in a single pediatric tertiary center.
A Tarkkanen, Tarkkanen, A., Kohva, E., T Raivio, S Taskinen, Miettinen, P. J., E Kohva, P J Miettinen, M Hero, Hero, M., Raivio, T., Taskinen, S.   +11 more
core   +1 more source

Disorders of Sexual Development.

, 2011
A difficulty to recognize at birth a male from a female newborn due to the presence of “ambiguous genitalia” is a rare event, but abnormalities of the external genitalia that need further investigation may occur in about 1 in 4000 birth.
Balsamo A, Boldrini A., D'Alberon F, Bertelloni S, Cicognani A, Scaramuzzo RT, GHIRRI, PAOLO, D’Alberton F., BALSAMO, ANTONIO, CICOGNANI, ALESSANDRO, Bertelloni S., BOLDRINI, ANTONIO, Scaramuzzo R. T., Ghirri P.   +13 more
core   +1 more source

Molecular study of developmental sex disorders in children

Egyptian Journal of Medical Human Genetics, 2015
Background: Sex determination and differentiation in humans are processes that involve the interaction of several genes such as SRY, SOX9 genes which are important in the development of the male genital system.
Soheir S. AboElella, Maha A.M. Tawfik, Wafaa moustafa M. Abo El-fotoh   +2 more
doaj   +1 more source

Diagnosis and surgical decision-making of a 46, XX ovotesticular disorders of sex development patient: a case report

Frontiers in Surgery
BackgroundOvotesticular disorder of sex development is a rare form of disorder of sex development that manifests as ovotestis in individuals. The precise diagnosis and the choice of surgical procedures are still in conflict condition due to the rarity of
Hanxing Zhao, Zhixing Chen, Zhixing Chen, Baoyun Wang, Zhenyu Zhang, Zhenyu Zhang, Zhengyong Li, Zhengyong Li   +7 more
doaj   +1 more source

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population [PDF]

, 2017
Background: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD).
Gehrmann, Katharina, Pienkowski, C, Roehle, Robert, Claahsen-van der Grinten, H.L., Katharina Gehrmann, Cohen-Kettenis, P, Anna Nordenström, Peggy Cohen-Kettenis, Röhle, Robert, Grinten, Hedi,, Pienkowski, Catherine, Catherine Pienkowski, Bouvattier, Claire, Birgit Köhler, Szarras-Czapnik, Maria, Nordenström, Anna, Grinten, Hedi, Claahsen-van Der, Nordenstrom, A, Thyen, Ute, Hedi Claahsen-van der Grinten, Claahsen-van der Grinten, Hedi, Koehler, B, Szarras-Czapnik, M, Köhler, Birgit, Bouvattier, C, on behalf of the dsd-LIFE group, Robert Röhle, Kohler, B., Maria Szarras-Czapnik, Claahsen-van, der Grinten H, Gehrmann, K, null null, Thyen, U, Ute Thyen, Cohen-Kettenis, Peggy, Claire Bouvattier, Roehle, R   +36 more
core   +1 more source

SUBMICROSCOPIC DUPLICATION OF 8q24.3 REGION IS A POTENTIAL CANDIDATE FOR DISORDERS OF SEX DEVELOPMENT

, 2016
Submicroscopic duplication of 8q24.3 region is a potential candidate for disorders of sex development: Some of the disorders of sex development (DSD), including 46, XX testicular DSD formerly called "XX maleness" and 46, XY DSD with partial or complete ...
Dilek, F. N., Kayserili, H., Saka, N., Ergun, M. A., Percin, E. F.   +4 more
core  

In-depth exploration of differences of sex development: 5-year experience in a tertiary center

Endocrine Connections
Background: Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients.
Mohamed Hssaini, Sana Abourazzak, Ihsane El Otmani, Mohamed Ahakoud, Amina Ameli, Laila Bouguenouch, Hicham Bekkari   +6 more
doaj   +1 more source

46, XX Testicular Disorder of Sex Development

Journal of Human Reproductive Sciences, 2022
openaire   +3 more sources

Very late presentation of a disorder of sex development

, 2017
Disorders of sex development generally present in the neonatal period with ambiguity of external genitalia. We report a very old male patient presenting at 75 years because of panhypopituitarism and a large nonsecreting pituitary macroadenoma secondary ...
Martins, J.M., Fraga, M., A. D. Sousa, Marques, B., Sousa, A.D., Marques, Bárbara, F. Tortosa, M. Fraga, Miguens, J., J. M. Martins, Sousa, A. D., Tortosa, F., B. Marques, Martins, João Martin, J. Miguens   +14 more
core   +1 more source