Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development [PDF]
Annals of Pediatric Endocrinology & MetabolismPurpose 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD.
Heeyon Yoon +4 more
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Rare SRY-negative 46,XX disorder of sex development with male phenotype and ectopic gonads: a case report [PDF]
Frontiers in EndocrinologyIndividuals who exhibit male external genitalia and testicular tissue despite a 46,XX karyotype with SRY-Negative represent an exceptionally rare phenotype of disorders of sex development (DSD), and the underlying mechanism remains poorly understood.
Jianxu Luo +8 more
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Prostatic development and verumontanum in a 46,XX karyotype : An embryological paradox redefining diagnostic algorithm for testicular DSD [PDF]
Urology Case ReportsEvaluation of 46,XX Disorders of Sex Development (DSD) with severe virilization often yields inconclusive results. We report a case where alternative diagnostics resolved a significant phenotype-karyotype discordance.
Rifqi Yanda Muhammad, Joko Pitoyo
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46,XX DSD: Developmental, Clinical and Genetic Aspects
Diagnostics, 2021 Differences in sex development (DSD) in patients with 46,XX karyotype occur by foetal or postnatal exposure to an increased amount of androgens. These disorders are usually diagnosed at birth, in newborns with abnormal genitalia, or later, due to ...
Camelia Alkhzouz +4 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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Management challenges of disorders of sex development- Case Series
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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SRY-negative in 46, XX Male Testicular DSD: a case report
Journal of Biomedicine and Translational Research, 2020 Background: The sex determination process requires distinct signaling pathways to generate either testis or ovaries from the same precursor structures, the primordial gonad.
Nurin Aisyiyah Listyasari +2 more
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Neovagina in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome: Vaginoplasty Using Ileal Flap
Acta Médica Portuguesa, 2023 Introduction: Surgical treatment of patients with malformations of the female genital tract is a complex problem and there are different techniques described in the literature.
Sílvia Serrano +3 more
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A long-term follow-up of Sex Chromosomal Mosaicism Disorders of Sex Development
Journal of Biomedicine and Translational Research, 2019 Background: Chromosomal mosaicism is characterized by the presence of two or more distinct cell lines in an individual. Mosaicism in sex chromosome is a major component of Disorders of Sex Development (DSD) results in a large clinical spectrum of ...
Nurin Aisyiyah Listyasari +2 more
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Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings
Frontiers in Endocrinology, 2022 BackgroundThe clinical profile and genetics of individuals with Disorders/Differences of Sex Development (DSD) has not been reported in Ukraine.Materials and MethodsWe established the Ukrainian DSD Register and identified 682 DSD patients.
Evgenia Globa +5 more
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