Results 91 to 100 of about 1,174,652 (161)

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

EVALUASI HASIL OPERASI HIPOSPADIA PADA PASIEN DENGAN 46,XY DISORDERS OF SEX DEVELOPMENT (DSD) [PDF]

, 2011
Background: Disorders of sex development manifesting as hypospadias in patients with 46,XY DSD require surgical treatment. Evaluation of hypospadias repair outcomes is essential for identification and treatment of complication, considering that ...
Erna, Wang, MH Faradz, Sultana, Juniarto, Zulfa   +2 more
core   +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

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

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

Detection of Molecular Variations at Androgen Receptor Gene in 46,XY Differences in Sex Development Cases

Indian Journal of Endocrinology and Metabolism
Introduction: One of the common causes of 46,XY differences in sex development (DSD) cases is androgen insensitivity syndrome. This X-linked recessive inherited condition is associated with pathological variations of the AR gene, leading to defects in ...
Nanis S. Marzuki, Hannie D. Kartapradja, Farah N. Coutrier, Irfan Wahyudi, Jose R.L. Batubara   +4 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

Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development (DSD) from a single tertiary centre

, 2015
Introdução: As doenças crônicas que envolvem tratamento clínico e cirúrgico podem comprometer a qualidade de vida. Poucos estudos analisam a qualidade de vida de pacientes com distúrbios do desenvolvimento sexual (DDS). O objetivo foi avaliar a qualidade
Amaral, Rita de Cássia do
core   +1 more source

46 Xy gonadal disginezis

, 2012
46,XY cinsiyet gelişim bozukluğu(46,XY CGB) 46,XY karyotip ile karakterize hafif yada ağır penoskrotal hipospadias, azalmış sperm üretimi ,disgenetik testisin olduğu ambigus genitalyadan matür uterus ve fallop tüplerinin olduğu geniş bir kliniğe sahiptir.
Akyürek, Nesibe, Eklioğlu, Beray Selver, Atabek, Mehmet Emre, Arı, Yüca Sevil   +3 more
core  

46 XY Gonodal Dysgenesis

, 2012
46,XY disorder of sex development (46,XY DSD) is characterized by a 46,XY karyotype, ambiguous genitalia with mild to severe penoscrotal hypospadias, dysgenetic testes, reduced to no sperm production, and müllerian structures that range from absent to ...
Akyürek, Nesibe, Eklioğlu, Berkay Selver, Atabek, Mehmet Emre, Arı Yuca, Sevil   +3 more
core