USMLE (Fach) / Endocrine (Lektion)
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11β-hydroxylase deficiency
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↓ Aldosterone↑ 11-deoxycorticosterone (results in ↑ BP)↓ Cortisol↑ Sex hormones↑ BP↓ K+
Labs: ↓ renin activity
Presentation: - XX: virilization
All congenital adrenal enzyme deficiencies are characterized by skin hyperpigmentation (due to ↑ MSH production, which is coproduced and secreted with ACTH) and bilateral adrenal gland enlargement (due to ↑ ACTH stimulation).
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