Observational exploratory study of a cohort of pediatric and adolescent patients diagnosed with DSD karyotype 46,XY, a rare congenital clinical condition characterized by a disharmonic development between chromosomal sex, gonadal sex and/or phenotypic sex.
Karyotype 46,XY DSD;
Genital ambiguity signs assessed on the basis of clinical phenotype and EMS/EGS for karyotype 46,XY DSD;
Age < 18 years at diagnosis of 46,XY DSD;
Patients referred to the IRCCS Azienda Ospedaliero-Universitaria di Bologna since 01/01/1991 or to other participating centres since 01/01/2000;
None
Patients aged \< 18 years at diagnosis of 46,XY DSD who referred to the IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, since 01/01/1991 or to other participating italian centres since 01/01/2000.
Cohort
Other
Not listed
Prevalence of 46,XY DSD patients
number of 46,XY DSD patients referred to partecipating centres during the reporting period
Sex
sex assigned at birth, and current sex (M/F)
EMS/EGS (External Masculinization Score ed ExternalGenital Score)
presence/absence of micropenis, bifid scrotum, urethral meatus position, testicles position, genital tubercle, mullerian residues
Age of onset of genital ambiguity signs
years, months
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