Results 31 to 40 of about 535,039 (214)
Disorders of sex development [PDF]
Best Practice & Research Clinical Obstetrics & Gynaecology, 2018 Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of
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International Journal of Molecular Sciences, 2020 Disorders (or differences) of sex development (DSD) are a heterogeneous group of congenital conditions with variations in chromosomal, gonadal, or anatomical sex.
N. Gomes +3 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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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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Non-Syndromic 46,XY Disorders of Sex Development
Acta Medica Martiniana, 2018 Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic ...
Gecz J, Breza J, Banovcin P
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, 2020 Disorders of Sex Development includes a range of conditions where there may be genital ambiguity at birth or becomes evident later in childhood. It occurs as a result of errors in development of external and internal genital structures. The diagnosis and management of these conditions requires a multidisciplinary approach with shared decision making ...
Prasad Godbole, Neil Wright
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Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Purpose Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes.
Yena Lee +8 more
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A Rare Presentation of Disorder of Sex Development [PDF]
Cureus, 2021 Disorder of sex development (DSD) is the term ascribed to a wide group of disorders presenting with congenital discord between chromosomal sex and phenotypic manifestation. Its incidence is 1 in 4500 births. 46 XX testicular DSD is a rare disorder characterized by the discordance between female karyotype and male phenotype. Its incidence is 1:20,000 to
Umal Azmat +3 more
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Genome Biology, 2016 Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To
Stefanie Eggers +72 more
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Asian Journal of Andrology, 2020 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
Bingqing Yu +6 more
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