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 +11 more
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“Spectrum of 46 XY disorders of sex development”: A Hospital-based Cross-sectional Study [PDF]
Indian Journal of Endocrinology and Metabolism, 2020 Background: Disorders of sex development (DSD) are a wide range of relatively rare conditions having diverse pathophysiology. Identification of an underlying cause can help in treating any coexisting hormone deficiencies and can help with anticipating ...
Samiran Das +8 more
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Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing [PDF]
Asian Journal of Andrology, 2021 46,XY disorders of sex development (DSD) is characterized by incomplete masculinization genitalia, with gonadal dysplasia and with/without the presence of Müllerian structures. At least 30 genes related to 46,XY DSD have been found. However, the clinical
Bing-Qing Yu +6 more
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A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report [PDF]
BMC Pediatrics, 2023 Background Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. To optimize management and minimize hazards, correct and early clinical and molecular diagnosis is necessary.
Dan Zhang +6 more
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Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development [PDF]
Molecular Genetics & Genomic MedicineBackground 46,XY sex reversal 11 (SRXY11) [OMIM#273250] is characterized by genital ambiguity that may range from mild male genital defects to gonadal sex reversal in severe cases.
Wei Jiang +7 more
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Management challenges of disorders of sex development- Case Series [PDF]
Rwanda Medical Journal, 2022 INTRODUCTION: Disorders of sex development (DSDs) are genetic abnormalities characterized by discordance between phenotypic, gonadal, and genetic sex. They are grouped into two categories based on karyotype: 46, XX DSD and 46, XY DSD. CASES: We reviewed
B. Tuyishimire +7 more
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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 +4 more
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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 +5 more
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COMPARISON OF SINGLE DOSE AND MULTI-DOSE hCG STIMULATION TESTS
İstanbul Tıp Fakültesi Dergisi, 2022 Objective: The human chorionic gonadotropin (hCG) stimulation test is widely used to assess testicular steroidogenesis. This test evaluates Leydig cell function and helps to evaluate testosterone synthesis in testicular enzyme defects, hypogonadism, 46 ...
Aslı Derya Kardelen Al +7 more
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ENVIRONMENTAL AND GENETIC EVALUATION IN 46,XY DISORDERS OF SEX DEVELOPMENT [PDF]
Journal of Environmental Science, 2019 The phenotype of Disorders of Sex Development (DSD)patients depends on many factors including the presence of Copy Number Variation (CNVs) of different genes.
Shereen A. Abdelkader +4 more
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