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Patients with disorders of sex development [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2021 Disorders of sex development (DSDs) are a genetically and clinically heterogeneous group of congenital conditions of the urogenital tract and reproductive system.
Renata Markosyan
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Disorders of Sex Development of Adrenal Origin [PDF]
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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Ultrasonography for disorders of sex development in pediatrics [PDF]
Frontiers in PediatricsObjectiveThis study aimed to evaluate the clinical value of ultrasonography in the management of disorders of sex development (DSDs).MethodsUltrasonographic appearance and clinical data of 82 cases with DSD were reviewed retrospectively.ResultsIn total ...
Yuting Wu +3 more
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Current Diagnostic Approaches in the Genetic Diagnosis of Disorders of Sex Development [PDF]
JCRPEDisorders of sex development (DSD) are a clinically and genetically highly heterogeneous group of congenital disorders. The most accurate and rapid diagnosis may be possible with a complementary multidisciplinary diagnostic approach, including ...
Deniz Özalp Kızılay, Samim Özen
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Ovotesticular disorders of sex development with dysgerminoma in a 46, XX/46, XY female: A case report [PDF]
Gynecologic Oncology ReportsThe diagnosis of ovotesticular disorders of sex development can only be confirmed when both testicular and ovarian tissues are present simultaneously in the same individual, regardless of the patient’s karyotype. This report aims to discuss the diagnosis
Yafei Xue +4 more
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Editorial: Shared decision making in pediatric differences/disorders of sex development [PDF]
Frontiers in Urology, 2023 Kristina Suorsa-Johnson +5 more
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Fully Masculinized 46,XX Individuals with Congenital Adrenal Hyperplasia: Perspective Regarding Sex of Rearing and Surgery [PDF]
International Journal of Fertility and Sterility, 2022 Current guidelines for gender assignment for all 46,XX congenital adrenal hyperplasia (CAH) continue to be female. This decision is most challenging for individuals with a 46,XX karyotype born with (CAH) having severely masculinized genitalia (Prader 4 ...
Collin Jones +3 more
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Metastatic dysgerminoma in a young patient with 46 XY DSD: A rare case report
Gynecologic Oncology Reports, 2021 The term DSD (Disorders of Sex development) is issued to define those conditions in whom disharmony exists between chromosomal, hormonal and anatomical sex. Parental and patient mental health and quality of life are adversely affected by these conditions.
Surekha Thakur +5 more
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Orphanet Journal of Rare Diseases, 2020 Background Mastermind-like domain-containing 1 (MAMLD1) has previously been identified as a causative gene for “46,XY Disorders of Sex Development (DSD)”. Recently, there has been some controversy regarding the causative role of MAMLD1 variations in DSDs.
Lele Li +5 more
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International Journal of Qualitative Studies on Health & Well-Being, 2023 Purpose Differences of sex development (DSD) are congenital conditions that involve variations in individuals’ sex chromosomes, genes, external and/or internal genitalia, hormones, and/or secondary sex characteristics.
Line Merete Mediå +3 more
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