Genetic and Endocrinological Evaluations of Three 46, XX Patients with Congenital Lipoid Adrenal Hyperplasia Previously Reported as Having Presented Spontaneous Puberty

• Published in: Endocrine Journal Vol. 47; no. 5; pp. 629 - 634
• Main Authors: TANAE, AYAKO, KATSUMATA, NORIYUKI, SATO, NAOKO, HORIKAWA, REIKO, TANAKA, TOSHIAKI
• Format: Journal Article
• Language: English
• Published: Japan The Japan Endocrine Society 01.10.2000
• Subjects: Adrenal Hyperplasia, Congenital - blood; Adrenal Hyperplasia, Congenital - genetics; Adult; Child; Codon, Nonsense; Congenital lipoid adrenal hyperplasia; Estradiol - blood; Female; Follicle Stimulating Hormone - blood; Frameshift Mutation; Humans; Hypothalamic-pituitary-ovarian function; Lipid Metabolism; Luteinizing Hormone - blood; Mutation; Phosphoproteins - genetics; Puberty, Precocious - blood; Radioimmunoassay; Steroidogenic acute regulatory protein; X Chromosome

Congenital lipoid adrenal hyperplasia (CLAH) is an autosomal recessive disorder characterized by impaired synthesis of adrenal and gonadal steroids. It was demonstrated that loss-of-function mutations in the steroidogenic acute regulatory protein (StAR) gene cause CLAH and that 46, XX patients with...