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Hong Kong Med J ; 19(3): 268-71, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23732434

RESUMEN

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a well-known disorder of sexual development (previously known as ambiguous genitalia) in genotypic female neonates. We report on a 66-year-old Chinese, brought up as male, with a simple virilising form of congenital adrenal hyperplasia associated with Turner's syndrome (karyotype 45,X/47,XXX/46,XX). His late presentation was recognised due to his exceptionally short stature and persistent sexual ambiguity. His condition was only brought to medical attention as he developed a huge abdominal mass, which later turned out to be a benign ovarian mucinous cyst. It is therefore important to look out for co-existing congenital adrenal hyperplasia in patients with Turner's syndrome and virilisation, after the presence of Y chromosome material has been excluded.


Asunto(s)
Hiperplasia Suprarrenal Congénita/diagnóstico , Síndrome de Turner/diagnóstico , Virilismo/diagnóstico , Hiperplasia Suprarrenal Congénita/fisiopatología , Factores de Edad , Anciano , Estatura , China , Femenino , Humanos , Quistes Ováricos/etiología , Quistes Ováricos/patología , Síndrome de Turner/fisiopatología , Virilismo/etiología
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