Results 101 to 110 of about 3,198 (197)

Disorders of sex development (DSD): an overview of recent scientific advances

, 2014
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core  

Familial 46, XY Disorder of Sexual Development identified in a Ph+BCR::ABL1P210+ Acute Lymphoblastic Leukemia septuagenarian female with RCBTB2::LPAR6 fusion gene: a case report

Frontiers in Oncology
BackgroundFamilial 46, XY Disorder of Sexual Development (DSD) was discovered in a Ph+, BCR::ABL1P210+ Acute Lymphoblastic Leukemia (ALL) female with RCBTB2::LPAR6 fusion gene. Siblings developing 46, XY DSD are extremely rare.
Lingling Wang, Conglin Xi, Xinyu Zheng, Yongfen Huang, Hao Xu, Yuqing Miao, Yuexin Cheng   +6 more
doaj   +1 more source

Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country

Journal of Biomedicine and Translational Research, 2017
Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper ...
Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Sultana MH Faradz   +2 more
doaj   +1 more source

Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion

, 2018
Background: Inhibin B is a hormone produced by the Sertoli cells that can provide important information for the investigation of disorders of sex development (DSD) with 46,XY karyotype.
Maricilda Palandi De Mello, Laurione Cândido De Oliveira, Georgette Beatriz De Paula, Gil Guerra-Junior, André Moreno Morcillo, Guilherme Guaragna-Filho, Antônio Ramos Calixto, Andrea Trevas Maciel-Guerra   +7 more
core   +1 more source

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.

, 2012
More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like ...
Michel Polak, Audran Francoise, Polak Michel, Manouvrier Sylvie, Francoise Audran, Philibert Pascal, Ogata Totsumo, Charles Sultan, Graziella Pinto, Fukami Maki, Nicolas Kalfa, Totsumo Ogata, Catherine Pienkowski, Jacques Weill, Pascal Philibert, Kalfa Nicolas, Pienkowski Catherine, Sylvie Manouvrier, Pinto Graziella, Maki Fukami, Weill Jacques, Sultan Charles   +21 more
core   +1 more source

Clinical profile of patients with 46 XY disorders of sex development: a single centered experience

, 2021
Background: XY disorders of sex development are a complex entity that needs medical attention from childhood to adolescence and throughout life. The aim of the study was to analyze retrospectively the medical records of subjects with 46 XY disorders of ...
Das, Darvin V.
core   +1 more source

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

Endocrine Connections, 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.
E Kohva, P J Miettinen, M Hero, A Tarkkanen, T Raivio, S Taskinen   +5 more
doaj   +1 more source

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

, 2015
International audienceDisorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these
Sandra Chantot‐Bastaraud, Sandra Rojo, Radu Harbuz, Matthieu Peycelon, Nicolas Perrot, Perrot, Nicolas, Piguel, Xavier, Hyon, Capucine, Chantot-Bastaraud, Sandra, Mcelreavey, Ken, Bhouri, Rakia, Peycelon, Matthieu, Bashamboo, Anu, Sibony, Mathilde, Rojo, Sandra, Harbuz, Radu, Capucine Hyon, Xavier Piguel, Gilbert-Dussardier, Brigitte, Frederic Bilan, Brigitte Gilbert‐Dussardier, Bilan, Frederic, Alain Kitzis, Mathilde Sibony, Kitzis, Alain, Rakia Bhouri, Anu Bashamboo, Ken McElreavey, Jean‐Pierre Siffroi, Siffroi, Jean-Pierre   +29 more
core   +1 more source

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads

Clinical Pediatric Endocrinology, 2015
In 45,X/46,XY DSDs, the proportion of the two cell lineages is uneven in different organs and tissues, and 45,X and 46,XY cells can be found throughout the body. The gonadal development of 45,X/46,XY patients depends on the population of 46,XY cells in the gonads and the clinical features are variable.
Nomura, Risa, Miyai, Kentaro, Okada, Michiyo, Kajiwara, Michiko, Ono, Makoto, Ogata, Tsutomu, Onishi, Iichiro, Sato, Mana, Sekine, Masaki, Akashi, Takumi, Mizutani, Shuki, Kashimada, Kenichi   +11 more
openaire   +3 more sources

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

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