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
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
Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population [PDF]
BMC Endocrine Disorders, 2017 Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD).
Robert Röhle +10 more
doaj +3 more sources
Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model [PDF]
Biology of Sex Differences, 2018 Background Disorders of sex development (DSD) have an estimated frequency of 0.5% of live births encompassing a variety of urogenital anomalies ranging from mild hypospadias to a discrepancy between sex chromosomes and external genitalia.
Hayk Barseghyan +12 more
doaj +4 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
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
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
Malignant Germ Cell Tumors and Their Precursor Gonadal Lesions in Patients with XY-DSD: A Case Series and Review of the Literature. [PDF]
Int J Environ Res Public Health, 2021 The risk of gonadal germ cell tumors is increased over the lifetime of patients with XY-disorders of sex development (XY-DSD). The aim of this study was to evaluate clinical features and histopathological outcome after gonadectomy in patients with XY-DSD
Steinmacher S +5 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
Gesundheitszustand von Individuen mit männlichem Karyotyp und einer Variante der Geschlechtsentwicklung (46,XY DSD) [PDF]
, 2021 Unter Störungen, Unterschiede oder Varianten der Geschlechtsentwicklung (DSD) werden Diagnosen zusammengefasst, bei denen die Betroffenen nicht oder nur teilweise die typische weibliche oder männliche Geschlechtsentwicklung durchlaufen. Es werden drei
Gong, Xin Li
core +1 more source