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Ambiguous genitalia and hypertension in a patient with congenital adrenal hyperplasia
Author(s) -
Valsalan R.,
Zimmermann A.
Publication year - 2013
Publication title -
internal medicine journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 1444-0903
DOI - 10.1111/imj.12074
Subject(s) - congenital adrenal hyperplasia , medicine , ambiguous genitalia , presentation (obstetrics) , secondary hypertension , external genitalia , endocrinology , steroid 11 beta hydroxylase , hyperplasia , case presentation , pediatrics , steroid , surgery , blood pressure , anatomy , hormone
Congenital adrenal hyperplasia ( CAH ) is an uncommon condition. Its clinical presentation with hypertension is rare. Deficiency of the steroid 11‐beta‐hydroxylase accounts for less than 10% of CAH . We report a case of a 19‐year‐old patient who presents with hypertension with ambiguous genitalia secondary to adrenal steroidogenesis dysfunction. We also discuss the defects in adrenal steroidogenesis and clinical phenotypes of CAH .