[Objective] To confirm hyperlutemia as a simple, useful clue for the diagnosis and differential diagnosis of congenitial adrenal hyperplasia, the clinical data and basic studies of hyperlutemia were retrospectively analysed to explore the mechanism of hyperlutemia and its molecular basis.[Methods] Hypothesis:the persistant, unusually elevated ovulation-unrelated serum progesterone(hyperlutemia) was a sign of congenital defects of enzymes for synthesis of steroids in adrenal glands,1. Summary of types and clinical characteristics of hyperlutemia through the analysis of clinical data of the patients who suffered from congenital adrenal hyperplasia(CAH);2. Molecular analysis were performed in some of these patients to confirm the clinical diagnosis and to explore the pathophysiology.[Results] It was found that the congenital deficiencies of three key enzyme, including 17a-hydroxylase,21-hydroxylase and 11β-hydroxylase, were involved. Molecular results confirmed the clinical diagnosis and increased our knowledge about the molecular basis of CAH.[Conclusions] This study showed that the hyperlutemia were related to three key enzyme deficiencies in synthesis of steroids of CAH. Hyperlutemia can be used as a simple and useful clue for the awareness of presence of CAH, especially in hospitals of limited and unavailable test for the detection of adrenal disorders. |