Results 11 to 20 of about 3,198 (197)
46, XY DSD (Disorder of Sex Development) : Diagnosis dan Tatalaksananya. [PDF]
Majalah Kedokteran UKI, 2021 Disorder of Sex Development (DSD) is a congenital disorder that occurs in the development of chromosomes, gonads, and internal or external genital organ. DSD of 46 XY is a condition where the children with XY genotype is not able to have complete virilization of external genital.
Mildi Felicia, Beto Suhartono
core +4 more sources
, 2018 Molecular e General Data - 46,XY DSD Brazilian ...
Batista, Rafael, B. Mendonca, Berenice
core +4 more sources
DHX37 and 46,XY DSD: A New Ribosomopathy?
Sexual Development, 2022 Recently, a series of recurrent missense variants in the RNA-helicase <i>DHX37</i> have been reported associated with either 46,XY gonadal dysgenesis, 46,XY testicular regression syndrome (TRS), or anorchia. All affected children have non-syndromic forms of disorders/differences of sex development (DSD). These variants, which involve highly
Mcelreavey, Kenneth +2 more
openaire +5 more sources
46,XY disorders of sex development (DSD)
Clinical Endocrinology, 2009 SummaryThe term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical.Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or disorders of sex differentiation leading to 46,XY DSD.
Berenice Bilharinho, Mendonca +3 more
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46,XY DSD due to impaired androgen production
Best Practice & Research Clinical Endocrinology & Metabolism, 2010 Disorders of androgen production can occur in all steps of testosterone biosynthesis and secretion carried out by the foetal Leydig cells as well as in the conversion of testosterone into dihydrotestosterone (DHT). The differentiation of Leydig cells from mesenchymal cells is the first walk for testosterone production.
Mendonca, Berenice B. +4 more
openaire +4 more sources
Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients [PDF]
Egyptian Journal of Medical Human Genetics, 2021 Background Pathogenic variants in the androgen receptor (AR) gene located on chromosome Xq11-12, are known to cause varying degrees of undermasculinization in 46, XY individuals.
Nurin Aisyiyah Listyasari +5 more
doaj +2 more sources
Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects. [PDF]
PLoS OneSRD5A2 gene variants are associated with deficiency of steroid 5α-reductase type 2, which is an autosomal recessive disorder of sex development (DSD) present in 46,XY males with ambiguous genitalia. To determine the causality of the disorder, this study involved genetic screening of SRD5A2 in six unrelated patients with this condition. Polymerase chain
Ramos L.
europepmc +5 more sources
Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development. [PDF]
PLoS ONE, 2013 Background46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD.Methodology/principal findingsTo clarify the ...
Maki Igarashi +11 more
doaj +2 more sources
Molecular Genetics & Genomic Medicine, 2022 Background 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.
Felipe Martins Elias +9 more
doaj +2 more sources
General Characteristics of 46,XY DSD individuals according to sex assignment
, 2018 General Characteristics of 46,XY DSD individuals according to sex ...
Batista, Rafael, Mendonca, Berenice B.
openaire +2 more sources