Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development | Zendy

Agnethe Berglund | Zendy; Trine Holm Johannsen | Zendy; Kirstine Stochholm | Zendy; Mette Viuff | Zendy; Jens Fedder | Zendy; Katharina M. Main | Zendy; Claus Højbjerg Gravholt | Zendy

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Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development

Author(s) -

Agnethe Berglund,

Trine Holm Johannsen,

Kirstine Stochholm,

Mette Viuff,

Jens Fedder,

Katharina M. Main,

Claus Højbjerg Gravholt

Publication year - 2016

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-2248

Subject(s) - gonadal dysgenesis , incidence (geometry) , medicine , confidence interval , dysgenesis , turner syndrome , pediatrics , gynecology , karyotype , presentation (obstetrics) , obstetrics , biology , genetics , chromosome , physics , gene , optics , anatomy

The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, androgen insensitivity syndrome (AIS), and gonadal dysgenesis.

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