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
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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
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Scientifica, 2012 Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD,
Amy B. Wisniewski
doaj +2 more sources
46, XY DSD (Disorder of Sex Development) : Diagnosis dan Tatalaksananya [PDF]
, 2021 isorder of Sex Development (DSD) is a congenital disorder that occurs in the development of chromosomes, gonads, and internal or external genital organ.
Suhartono, Roberto, Felicia, Mildi
core +2 more sources
When to address form and when to address function: Timing of surgical reconstruction for a patient with 46 XY DSD. [PDF]
Urol Case Rep, 2023 Differences of sexual development (DSD) refers to congenital conditions characterized by discordant appearances of external genitalia with respect to sex chromosomes.
Li O, Gabrielson A, Wang MH.
europepmc +2 more sources
5-Alpha reductase deficiency; an important cause of 46, XY DSD: Report of three cases within a family. [PDF]
Clin Case Rep, 2023 Key clinical message 5‐Alpha reductase deficiency is an important cause of 46, XY disorder of sex development. Timely diagnosis and proper management by a multidisciplinary team can lead to a favorable outcome.
Noroozi Asl S +3 more
europepmc +2 more sources
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD [PDF]
J Clin Res Pediatr Endocrinol, 2022 OBJECTIVE: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in
Akcan N +13 more
europepmc +2 more sources
Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1. [PDF]
Int J Mol Sci, 2020 Variants of NR5A1 are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels.
Martínez de LaPiscina I +10 more
europepmc +3 more sources
Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development
Diagnostics, 2023 Background: Cytogenomic methods have gained space in the clinical investigation of patients with disorders/differences in sexual development (DSD). Here we evaluated the role of the SNP array in achieving a molecular diagnosis in Brazilian patients with ...
José Antonio Diniz Faria +10 more
doaj +1 more source