Results 101 to 110 of about 167,060,252 (161)

Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development

Biology of Sex Differences
Background 46,XX testicular disorder/difference of sex development (46,XX DSD) is a rare congenital condition, characterized by a combination of the typical female sex chromosome constitution, 46,XX, and a variable male phenotype.
Agnethe Berglund, Emma B. Johannsen, Anne Skakkebæk, Simon Chang, Julia Rohayem, Sandra Laurentino, Arne Hørlyck, Simon O. Drue, Ebbe Norskov Bak, Jens Fedder, Frank Tüttelmann, Jörg Gromoll, Jesper Just, Claus H. Gravholt   +13 more
doaj   +1 more source

Improving the diagnosis of Differences of Sex Development (DSD)

Prof Vincent Harley2023-12-15T00:00:00UniversityDSDs are surprisingly common, with an estimated frequency of 1%. However, half of DSD cases remain genetically undiagnosed. We will identify new causes of DSD. We will sequence DNA from patients and develop

core  

46,XX Testicular Disorder of Sex Development (DSD) Presenting With Male Hypogonadism. [PDF]

JCEM Case Rep
Chin RT, Mok SF.
europepmc   +1 more source

<i>SRY</i>-positive 46,XX testicular disorder of sex development in adult monozygotic twins. [PDF]

JCEM Case Rep
Pantović V, Tančić-Gajić M, Miletić M, Bojović T, Vujović S.   +4 more
europepmc   +1 more source

Prenatal sex discordance revealing SRY-positive 46,XX testicular disorder of sex development. [PDF]

Urol Case Rep
Tobia-Gonzalez S, Barganski N, Miller M, Renck A, Smith-Harrison L.   +4 more
europepmc   +1 more source

Improving the diagnosis of Disorders Sex Development (DSD)

Prof Vincent HarleyDisorders of sexual development (DSDs) are surprisingly common, and often result in genital abnormalities, gender mis-assignment, infertility and psychological trauma.

core  

Incidental discovery of neglected 11β-hydroxylase deficiency causing 46,XX disorder of sex development in a 35-year-old adult: A radiologically driven diagnosis. [PDF]

Radiol Case Rep
Abouchiba S, Ennejjari N, Ouazzani H, Chaouche I, Akammar A, Haloua M, Alami B, Lamrani MYA, Boubbou M, Maaroufi M, El Bouardi N.   +10 more
europepmc   +1 more source

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report. [PDF]

Clin Case Rep
Agarwal H, Jha T, Azmi MO, Sarkar S, Suresh V.   +4 more
europepmc   +1 more source

PEG-rhGH successfully improved the height of a patient with rare 45,X[40]/46,XY[31] disorder of sex development: the first reported case. [PDF]

Transl Pediatr
Li S, Ge R, Liao N, Su Y, Lei C, Hu S, Wang Y, Ren Y.   +7 more
europepmc   +1 more source