A Case of Congenital Adrenal Hyperplasia Mimicking Cushing's Syndrome
Journal of Korean Medical Science
;
: 1439-1443, 2012.
Article
Dans Anglais
| WPRIM
| ID: wpr-111758
ABSTRACT
Congenital adrenal hyperplasia (CAH) is characterized by decreased adrenal hormone production due to enzymatic defects and subsequent rise of adrenocorticotrophic hormone that stimulates the adrenal cortex to become hyperplastic, and sometimes tumorous. As the pathophysiology is basically a defect in the biosynthesis of cortisol, one may not consider CAH in patients with hypercortisolism. We report a case of a 41-yr-old man with a 4 cm-sized left adrenal tumorous lesion mimicking Cushing's syndrome who was diagnosed with CAH. He had central obesity and acanthosis nigricans involving the axillae together with elevated 24-hr urine cortisol level, supporting the diagnosis of Cushing's syndrome. However, the 24-hr urine cortisol was suppressed by 95% with the low dose dexamethasone suppression test. CAH was suspected based on the history of precocious puberty, short stature and a profound suppression of cortisol production by dexamethasone. CAH was confirmed by a remarkably increased level of serum 17-hydroxyprogesterone level. Gene mutation analysis revealed a compound heterozygote mutation of CYP21A2 (I173N and R357W).
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Dexaméthasone
/
Hydrocortisone
/
Analyse de mutations d'ADN
/
Steroid 21-hydroxylase
/
Tomodensitométrie
/
Hyperplasie congénitale des surrénales
/
17alpha-Hydroxyprogestérone
/
Syndrome de Cushing
/
Acanthosis nigricans
/
Glucocorticoïdes
Limites du sujet:
Adulte
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
2012
Type:
Article
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