Results 21 to 30 of about 56,903 (162)

Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development

Diagnostics, 2023
Background: Cytogenomic methods have gained space in the clinical investigation of patients with disorders/differences in sexual development (DSD). Here we evaluated the role of the SNP array in achieving a molecular diagnosis in Brazilian patients with ...
José Antonio Diniz Faria, Daniela R. Moraes, Leslie Domenici Kulikowski, Rafael Loch Batista, Nathalia Lisboa Gomes, Mirian Yumie Nishi, Evelin Zanardo, Carolina Kymie Vasques Nonaka, Bruno Solano de Freitas Souza, Berenice Bilharinho Mendonca, Sorahia Domenice   +10 more
doaj   +1 more source

GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature

JCRPE, 2022
The genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. GATA-4 haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY).
Nurullah Çelik, Hande Küçük Kurtulgan, Fatih Kılıçbay, Gaffari Tunç, Ayça Kömürlüoğlu, Onur Taşçı, Cemile Ece Çağlar Şimşek, Taha Çınar4, Yeşim Sıdar Duman   +8 more
doaj   +1 more source

Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development

Molecular Genetics & Genomic Medicine, 2022
Background Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia.
Felipe Martins Elias, Mirian Yumi Nishi, Maria Helena Palma Sircili, Rafael Loch Bastista, Nathalia Lisboa Gomes, Maria Tereza Martins Ferrari, Elaine Maria Frade Costa, Francisco Tibor Denes, Berenice Bilharinho Mendonca, Sorahia Domenice   +9 more
doaj   +1 more source

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

BMC Medical Genomics, 2022
Background Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical.
Jia Wei, Jiaqi Wu, Wei Ru, Guangjie Chen, Lei Gao, Daxing Tang   +5 more
doaj   +1 more source

Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects. [PDF]

PLoS One
SRD5A2 gene variants are associated with deficiency of steroid 5α-reductase type 2, which is an autosomal recessive disorder of sex development (DSD) present in 46,XY males with ambiguous genitalia.
Ramos L.
europepmc   +2 more sources

Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development

Italian Journal of Pediatrics, 2022
Background Over 100 mutations in the SRD5A2 gene have been identified in subjects with 46,XY disorder of sex development (DSD). Exploration of SRD5A2 mutations and elucidation of the molecular mechanisms behind their effects should reveal the functions ...
Liwei Li, Junhong Zhang, Qing Li, Li Qiao, Pengcheng Li, Yi Cui, Shujun Li, Shirui Hao, Tongqian Wu, Lili Liu, Jianmin Yin, Pingsheng Hu, Xiaowei Dou, Shuping Li, Hui Yang   +14 more
doaj   +1 more source

Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development. [PDF]

PLoS ONE, 2013
Background46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD.Methodology/principal findingsTo clarify the ...
Maki Igarashi, Vu Chi Dung, Erina Suzuki, Shinobu Ida, Mariko Nakacho, Kazuhiko Nakabayashi, Kentaro Mizuno, Yutaro Hayashi, Kenjiro Kohri, Yoshiyuki Kojima, Tsutomu Ogata, Maki Fukami   +11 more
doaj   +1 more source

Disorders of Sex Development of Adrenal Origin

Frontiers in Endocrinology, 2021
Disorders of Sex Development (DSD) are anomalies occurring in the process of fetal sexual differentiation that result in a discordance between the chromosomal sex and the sex of the gonads and/or the internal and/or external genitalia.
Gabriela P. Finkielstain, Ana Vieites, Ignacio Bergadá, Rodolfo A. Rey, Rodolfo A. Rey   +4 more
doaj   +1 more source

MAP3K1 Variant Causes Hyperactivation of Wnt4/β-Catenin/FOXL2 Signaling Contributing to 46,XY Disorders/Differences of Sex Development

Frontiers in Genetics, 2022
Background: 46,XY disorders/differences of sex development (46,XY DSD) are congenital conditions that result from abnormal gonadal development (gonadal dysgenesis) or abnormalities in androgen synthesis or action.
Hong Chen, Hong Chen, Qingqing Chen, Yilin Zhu, Ke Yuan, Huizhu Li, Bingtao Zhang, Zexiao Jia, Hui Zhou, Mingjie Fan, Yue Qiu, Qianqian Zhuang, Zhaoying Lei, Mengyao Li, Wendong Huang, Li Liang, Qingfeng Yan, Qingfeng Yan, Qingfeng Yan, Chunlin Wang   +19 more
doaj   +1 more source

Clinical, etiological and laboratory profile of children with disorders of sexual development (dsd)-experience from a tertiary pediatric endocrine unit in western India

Indian Journal of Endocrinology and Metabolism, 2021
Objectives: To present the clinical profile, diagnostic work-up, and management of children with Disorders of Sexual Development (DSD).Materials and Methods: A retrospective study from a tertiary pediatric endocrine unit of western India.
Rahul Jahagirdar, Vaman Khadilkar, Ruma Deshpande, Nikhil Lohiya   +3 more
doaj   +1 more source