Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24325
Abstract: Transporter‐dependent steroid hormone uptake into target cells was demonstrated in genetically engineered mice and fruit flies. We hypothesized that mutations in such transporters may cause differences in sex development (DSD) in humans. Exome sequencing was… read more here.
Keywords: sex development; development; differences sex; expression ... See more keywords
Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2084
Abstract: Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia. The expression of different miRNAs in… read more here.
Keywords: mir 210; sex development; differences sex; expression ... See more keywords
Prenatal detection and evaluation of differences of sex development: A qualitative interview study of parental perspectives and unmet needs
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6191
Abstract: Prenatal diagnoses of differences of sex development (DSD) are increasing due to availability of cell‐free DNA screening (cell‐free DNA screening (cfDNA)). This study explores first‐hand experiences of parents whose children had prenatal findings of DSD. read more here.
Keywords: differences sex; study; prenatal detection; sex development ... See more keywords
Differences of Sex Development: What Neonatologists Need to Know.
Sign Up to like & getrecommendations! Published in 2022 at "Clinics in perinatology"
DOI: 10.1016/j.clp.2021.11.013
Abstract: Differences of sex development (DSD) refer to rare conditions in which an individual's sex development is different from typical male or female development. The neonatologist is often the first health care provider to interact with… read more here.
Keywords: development; sex development; neonatologists need; differences sex ... See more keywords
Small copy-number variations involving genes of the FGF pathway in differences in sex development
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.11
Abstract: Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ~31% (n=26) of investigated genes.… read more here.
Keywords: small copy; copy number; genes fgf; sex development ... See more keywords
Addressing gaps in care of people with conditions affecting sex development and maturation
Sign Up to like & getrecommendations! Published in 2019 at "Nature Reviews Endocrinology"
DOI: 10.1038/s41574-019-0238-y
Abstract: Differences of sex development are conditions with discrepancies between chromosomal, gonadal and phenotypic sex. In congenital hypogonadotropic hypogonadism, a lack of gonadotropin activity results primarily in the absence of pubertal development with prenatal sex development… read more here.
Keywords: sex development; differences sex; sex; cost ... See more keywords
Miniscule differences between sex chromosomes in the giant genome of a salamander
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-36209-2
Abstract: In the Mexican axolotl (Ambystoma mexicanum), sex is determined by a single Mendelian factor, yet its sex chromosomes do not exhibit morphological differentiation typical of many vertebrate taxa that possess a single sex-determining locus. As… read more here.
Keywords: miniscule differences; differences sex; sex chromosomes; sex ... See more keywords
Understanding sexual health concerns among adolescents and young adults with differences of sex development: a qualitative study
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Qualitative Studies on Health and Well-being"
DOI: 10.1080/17482631.2023.2204635
Abstract: ABSTRACT 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. This study sought to elucidate the experiences of… read more here.
Keywords: health; adolescents young; differences sex; young adults ... See more keywords
Listening to individuals with differences in sex development or intersex and their families: 'not doing surgery doesn't mean doing nothing'.
Sign Up to like & getrecommendations! Published in 2022 at "Hormone research in paediatrics"
DOI: 10.1159/000525452
Abstract: Informed decision-making and considerations of the child's best interest offer a starting place for building informed and lifelong discussions that promote the long-term interests and the wellbeing of individuals experiencing differences in sex development (DSD)… read more here.
Keywords: differences sex; support; intersex; sex development ... See more keywords
A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD)
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvac165
Abstract: Abstract Context Differences of sex development (DSD) represent a wide range of conditions presenting at different ages to various health professionals. Establishing a diagnosis, supporting the family, and developing a management plan are important. Objective… read more here.
Keywords: sex development; differences sex; development dsd; dsd ... See more keywords
Serum LH/FSH ratios in 87 infants with differences of sex development
Sign Up to like & getrecommendations! Published in 2023 at "Endocrine Connections"
DOI: 10.1530/ec-22-0275
Abstract: The ratio between luteinizing hormone (LH) and follicle-stimulating hormone (FSH) has previously been described as an excellent marker of sex in healthy infants. However, LH/FSH remains not fully described in patients with differences of sex… read more here.
Keywords: sex development; differences sex; serum fsh; sex ... See more keywords