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Clinical features of 57 patients with lipoid congenital adrenal hyperplasia: Criteria for nonclassic form revisited

Journal of Clinical Endocrinology and Metabolism Aug 27, 2020

Ishii T, Tajima T, Kashimada K, et al. - Given that classic lipoid congenital adrenal hyperplasia [LCAH] (CLCAH) and nonclassic (NCLCAH) forms were reported as total and partial deficiencies, respectively, of adrenal and gonadal steroid hormones, researchers sought to determine the epidemiological and clinical features of two forms of LCAH. The sample consisted of 57 patients with LCAH (median age, 23.7 years; range, 0.0–47.5 years). The relative proportions and clinical and molecular characteristics of NCLCAH and CLCAH were demonstrated in Japan. Such criteria for NCLCAH correspond to all previous and the cases whose masculinization of the external genitalia, ability of mineralocorticoid production, and onset of primary adrenal insufficiency have been described.

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