Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23354
Abstract: Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified… read more here.
Keywords: novel; functional characterization; sex development; nr5a1 variants ... See more keywords
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
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1095
Abstract: GATA‐binding protein 4 (GATA4) and Friend of GATA 2 protein (FOG2, also known as ZFPM2) form a heterodimer complex that has been shown to influence transcription of genes in a number of developmental systems. Recent… read more here.
Keywords: variants gata4; sex development; gata4 fog2; analysis variants ... 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
Vaginoplasty and creating labia minora in children with disorders of sex development
Sign Up to like & getrecommendations! Published in 2018 at "International Urology and Nephrology"
DOI: 10.1007/s11255-018-2058-8
Abstract: PurposeTo report current results of vaginoplasty using the mucosa of the prepuce, and creating labia minora by penile skin in children with disorders of sex development (DSD).MethodsIn 10 years, we have performed 22 vaginoplasties using the… read more here.
Keywords: children disorders; sex development; labia minora; creating labia ... See more keywords
Genetic disorders of sex development in cats: An update.
Sign Up to like & getrecommendations! Published in 2020 at "Animal reproduction science"
DOI: 10.1016/j.anireprosci.2020.106353
Abstract: Disorders of sex development (DSD) are rarely reported in cats, but this does not mean these occurrences are an insignificant reproductive and health problem in this species. The DSD condition affects reproduction and can be… read more here.
Keywords: sex development; sex; disorders sex; genetic disorders ... 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
New technologies to uncover the molecular basis of disorders of sex development
Sign Up to like & getrecommendations! Published in 2018 at "Molecular and Cellular Endocrinology"
DOI: 10.1016/j.mce.2018.04.003
Abstract: The elegant developmental biology experiments conducted in the 1940s by French physiologist Alfred Jost demonstrated that the sexual phenotype of a mammalian embryo depended whether the embryonic gonad develops into a testis or not. In… read more here.
Keywords: technologies uncover; sex development; molecular basis; uncover molecular ... See more keywords
Prenatal and postnatal imaging techniques in the evaluation of disorders of sex development.
Sign Up to like & getrecommendations! Published in 2019 at "Seminars in pediatric surgery"
DOI: 10.1016/j.sempedsurg.2019.150839
Abstract: Imaging of the reproductive tract is challenging and requires a general knowledge of congenital variations in anatomy. The anatomy of the developing fetus, whether a male phenotype or female phenotype, is also a dynamic process… read more here.
Keywords: sex development; anatomy; postnatal imaging; disorders sex ... See more keywords
Ovotesticular Disorder of Sex Development Presenting as an Acute Scrotum.
Sign Up to like & getrecommendations! Published in 2018 at "Urology"
DOI: 10.1016/j.urology.2017.12.025
Abstract: Hermaphroditism is known as ovotesticular disorder of sex development. A 14-year-old boy was admitted with right acute scrotum. Exploration revealed tunica rupture and hematoma, with no viable tissue. After 1 month, he was admitted again… read more here.
Keywords: acute scrotum; disorder sex; ovotesticular disorder; sex development ... See more keywords