Searchable abstracts of presentations at key conferences in endocrinology

ea0011p732 | Steroids | ECE2006

Clinical presentation of a patient with novel mutation in CYP17 gene

Dzeranova LK , Tiulpakov AN , Pigarova EA , Voroncov AV , Artemova AM

The aim of this publication is to address an attention to possible misdiagnosis in patients with 17-alpha-hydroxylase deficiency.A 24 year old woman was admitted to our Centre with diagnosis of aldosteroma (aldosterone – 486 pmol/l (22–478), hypertension, hypokaliemia, adrenal mass (d–2.2 sm) defined by ultra sound). At the age of 15 years the patient was diagnosed with testicular feminisation as the cause of absent puberty (karyotype &#15...