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
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
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
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
Disorders of Sex Development: Pediatric Psychology and the Genital Exam
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pediatric Psychology"
DOI: 10.1093/jpepsy/jsw015
Abstract: Objective To provide suggestions for clinical care of youth with disorders of sex development (DSD) and their families, by drawing on preexisting pediatric psychology literature with a particular focus on child sexual abuse (CSA) genital… read more here.
Keywords: sex development; pediatric psychology; disorders sex; csa literature ... See more keywords
Patients' and Caregivers' Attitudes toward 'Disorders of Sex Development' Nomenclature.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Urology"
DOI: 10.1097/ju.0000000000001076
Abstract: OBJECTIVES Differences/disorders of sex development (DSD) medical terminology has been viewed negatively by some affected individuals. A clinical population of patients with DSD and their caregivers were surveyed regarding DSD nomenclature, hypothesizing that those unaffiliated… read more here.
Keywords: nomenclature; term; development; disorders sex ... See more keywords
Psychosocial implications of disorders of sex development treatment for parents
Sign Up to like & getrecommendations! Published in 2017 at "Current Opinion in Urology"
DOI: 10.1097/mou.0000000000000344
Abstract: Purpose of review Historically, studies of caregivers of children with disorders of sex development (DSD) have been limited. Recent findings Recent data reveal that parents of young children with DSD report increased stress, anxiety, depression,… read more here.
Keywords: children dsd; sex development; parents psychosocial; disorders sex ... See more keywords
A clue to the etiology of disorders of sex development from identity-by-descent analysis in dogs with cryptic relatedness.
Sign Up to like & getrecommendations! Published in 2022 at "Animal genetics"
DOI: 10.1111/age.13276
Abstract: Disorders of sex development (DSDs) are discrepancies between sex chromosomes and phenotypical sex. Quite common forms of DSD in canine populations include testicular and ovotesticular XX DSDs with a normal set of sex chromosomes. The… read more here.
Keywords: descent analysis; french bulldogs; sex development; etiology ... See more keywords
Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Endocrinology"
DOI: 10.1111/cen.13831
Abstract: To analyze nuclear receptor subfamily 5 group A member 1 (NR5A1) gene mutations in a cohort of Chinese patients with 46, XY Disorders of Sex Development (DSD). read more here.
Keywords: patients disorders; novel nr5a1; sex development; chinese patients ... See more keywords
Disorders of sex development: Mothers’ experiences of support
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Child Psychology and Psychiatry"
DOI: 10.1177/1359104517719114
Abstract: Background: An increasing body of research has sought to determine the impact of Disorders of Sex Development (DSD) on the family of the affected child. Little is currently understood about the support needs of the… read more here.
Keywords: development mothers; sex development; support; disorders sex ... See more keywords