Výsledky vyhledávání - "disorders/differences of sex development"

Akademický článek

Evidence for NR2F2/COUP-TFII involvement in human testis development

Autor: Somboon Wankanit, Housna Zidoune, Joëlle Bignon-Topalovic, Laurène Schlick, Denis Houzelstein, Leila Fusée, Asma Boukri, Nassim Nouri, Ken McElreavey, Anu Bashamboo, Maëva Elzaiat

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

Abstract NR2F2 encodes COUP-TFII, an orphan nuclear receptor required for the development of the steroidogenic lineages of the murine fetal testes and ovaries. Pathogenic variants in human NR2F2 are associated with testis formation in 46,XX individua

Externí odkaz: https://doaj.org/article/77766382aaa847189fa76e3bb2fc1a8f

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Akademický článek

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development

Autor: Zehra Yavas Abalı, Tulay Guran

Publikováno v: Frontiers in Endocrinology, Vol 15 (2024)

Prenatal-onset androgen excess leads to abnormal sexual development in 46,XX individuals. This androgen excess can be caused endogenously by the adrenals or gonads or by exposure to exogenous androgens. The most common cause of 46,XX disorders/differ

Externí odkaz: https://doaj.org/article/5c062e9399104ede89b4a9cbc6f150e6

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Akademický článek

Quality of life in men with Klinefelter syndrome: a multicentre study

Autor: Sebastian Franik, Kathrin Fleischer, Barbara Kortmann, Nike M Stikkelbroeck, Kathleen D’Hauwers, Claire Bouvattier, Jolanta Slowikowska-Hilczer, Solange Grunenwald, Tim van de Grift, Audrey Cartault, Annette Richter-Unruh, Nicole Reisch, Ute Thyen, Joanna IntHout, Hedi L Claahsen-van der Grinten

Publikováno v: Endocrine Connections, Vol 12, Iss 10, Pp 1-11 (2023)

Background: Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortal ity, which may have a significant impact on quality of life (QOL). The objective of this study is to i

Externí odkaz: https://doaj.org/article/2fdf5a44260d45bb8b376133ed4665d5

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Akademický článek

The impact of Klinefelter syndrome on socioeconomic status: a multicenter study

Publikováno v: Endocrine Connections, Vol 11, Iss 7, Pp 1-11 (2022)

Klinefelter syndrome (KS) is associated with an increased risk of neuropsychological morbidity, such as learning disabilities, which may have a significant impact on socioeconomic status (SES). The objective of this study was to investigate the SES i

Externí odkaz: https://doaj.org/article/e9a9983507f94fe08975119b3bc9e33d

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Akademický článek

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Akademický článek

Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature

Autor: Hui Wang, Dian Wu, De-Hua Wu, Hong-Juan Tian, Hai-Feng Li, Ke-Wen Jiang, Chao-Chun Zou

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

The myelin regulatory factor (MYRF; MIM# 608329) gene was first identified as a critical transcription factor involved in oligodendrocyte differentiation and central nervous system myelination. With the recent development of exome sequencing, pathoge

Externí odkaz: https://doaj.org/article/2bdc4ac881d84bc6bb7f581e94c32833

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Akademický článek

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Akademický článek

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Autor: Housna Zidoune, Asmahane Ladjouze, Djalila Chellat-Rezgoune, Asma Boukri, Scheher Aman Dib, Nassim Nouri, Meryem Tebibel, Karima Sifi, Noureddine Abadi, Dalila Satta, Yasmina Benelmadani, Joelle Bignon-Topalovic, Maeva El-Zaiat-Munsch, Anu Bashamboo, Ken McElreavey

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

In a majority of individuals with disorders/differences of sex development (DSD) a genetic etiology is often elusive. However, new genes causing DSD are routinely reported and using the unbiased genomic approaches, such as whole exome sequencing (WES

Externí odkaz: https://doaj.org/article/a30672ccbf724ddaaff9d212a96814dd

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Akademický článek

Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review

Autor: Wei Zhang, Jiangfeng Mao, Xi Wang, Bang Sun, Zhiyuan Zhao, Xiaoxia Zhang, Min Nie, Xueyan Wu

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Purpose: Patients with syndromic 46, XY disorders/differences of sex development (DSD) are characterized by gonadal and phenotypic genders inconsistent with their chromosomal sexes as well as abnormalities of multiple extragonadal organs. They are ca

Externí odkaz: https://doaj.org/article/e59132565d2945f7b0d4671792a2d650

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