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Vaginoplasty for disorders of sex development [PDF]
Frontiers in Endocrinology, 2013 One of the most common problem found in patients with Disorders of Sexual Developments (DSD) is the absence or extreme hypoplasia of the vagina. The type of patients presenting this anomaly may belong to complete different groups: - patients with a ...
Giacinto A. Marrocco +6 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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Current status of disorders of sexual development in Indonesia
Advances in Human Biology, 2022 Disorders of Sex Development (DSD) rise challenges in various aspects of life due to the abnormalities in the patients' sex chromosomes, gonads or reproductive organs. Its causes are often due to genetic and environmental factors.
Ziske Maritska +8 more
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Imaging Evaluation of Disorders of Sex Development
Journal of Gastrointestinal and Abdominal Radiology, 2020 Disorders of sex development (DSD) refer to congenital conditions with a typical development of chromosomal, gonadal, or anatomic sex. In the revised classification of DSD, there are three categories based on karyotype: 46,XX DSD; 46,XY DSD; and sex ...
Anu Eapen +5 more
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Journal of Biomedicine and Translational Research, 2021 Background: Sex chromosomal Disorder of sex development (DSD) is an atypical abnormality of external genitalia which is mismatched with its sex chromosome traits. The condition of children with DSD affects the dynamics in the family.
Iit Fitrianingrum +3 more
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Clinical Case Reports, 2018 Key Clinical Message We report an atypical disorders of sex development (DSD) case with no mutation of SYR gene but partial Yq deletion and partial duplication of Yp and Yq.
Qing‐Song Liu +4 more
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Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Purpose Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients
Nae-yun Lee +6 more
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A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male
Clinical Case Reports, 2020 Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.
Setilla Dalili +4 more
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Male Hypogonadism and Disorders of Sex Development
Frontiers in Endocrinology, 2020 Disorders of Sex Development (DSD) are congenital anomalies in which there is a discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex.
Romina P. Grinspon +3 more
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A questionnaire-based survey on hyperphagia in individuals with Prader–Willi syndrome in Japan
Endocrine JournalPrader–Willi syndrome (PWS) is associated with increased mortality, primarily due to complications from hyperphagia-associated obesity. Clinical trials investigating anti-hyperphagic medications are currently underway.
Makiko Tachibana +9 more
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