Results 111 to 120 of about 3,198 (197)

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

, 2018
SF-1/NR5A1 is a transcriptional regulator of adrenal and gonadal development. NR5A1 disease-causing variants cause disorders of sex development (DSD) and adrenal failure, but most affected individuals show a broad DSD/reproductive phenotype only.
Audí, Laura, Schaller, André, André Schaller, Camats Tarruella, Núria, Núria Camats, Mónica Fernández-Cancio, Christa E. Flück, Flück Pandey, Christa Emma, Fernández-Cancio, Mónica, Laura Audí   +9 more
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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

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model [PDF]

, 2018
BACKGROUND: Disorders of sex development (DSD) have an estimated frequency of 0.5% of live births encompassing a variety of urogenital anomalies ranging from mild hypospadias to a discrepancy between sex chromosomes and external genitalia.
Zadikyan, M, Barseghyan, H, Symon, A, Eskin, A, Baxter, R, Harley, V, Bramble, MS, Arboleda, VA, Segura, EE, Nelson, SF, Almalvez, M, Vilain, E, Délot, EC   +12 more
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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

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  

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  

Analysis of the Wilms' Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development

, 2011
Context: The Wilms' tumor suppressor gene (WT1) is one of the major regulators of early gonadal and kidney development. WT1 mutations have been identified in 46,XY disorders of sex development (DSD) with associated kidney disease and in
Wieacker, Peter, Köhler, Birgit, M. Pohl, Maier, Rolf, B. Köhler, J. Gellermann, Friedsam, V., P. Wieacker, Gellermann, Jutta, O. Hiort, H. Krude, Hiort, Olaf, V. Friedsam, Grüters-Kieslich, Annette, Krude, Heiko, R. F. Maier, H. Biebermann, Biebermann, Heike, Pohl, Martin, A. Grüters   +19 more
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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  

Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis

Molecular Cytogenetics
Background Sexual differentiation and development rely upon many genetic and environmental factors and any disruption of these can lead to Differences/Disorders of Sex Development (DSDs).
Arash Salmaninejad, Zahra Yaghoubi, Tahereh Haghzad, Maryam Latifi, Reza Bayat, Somaye Esnaashari, Setila Dalili   +6 more
doaj   +1 more source

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination. [PDF]

Clin Genet, 2023
Croft B, Bird AD, Ono M, Eggers S, Bagheri-Fam S, Ryan JM, Reyes AP, van den Bergen J, Baxendale A, Thompson EM, Kueh AJ, Stanton P, Thomas T, Sinclair AH, Harley VR.   +14 more
europepmc   +1 more source