Article
Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH.
Clinical endocrinology - 1 Sept 2000
Ishii T, Ogata T, Sasaki G, Sato S, Kinoshita E I, Matsuo N
Abstract excerpt
We report a 30-year-old female with adrenal unresponsiveness to ACTH. Her clinical features included no adrenal crisis despite poor drug compliance, poor pubic hair development (Tanner stage 2), well-developed breasts (Tanner stage 5), and regular menstrual cycles. Endocrinological data included blood ACTH 1500 pmol/l, cortisol 18 nmol/l, dehydroepiandrosterone sulphate below 0.26 micromol/l, activated renin 0.37...
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