ESPE Abstracts

Background: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by defect in adrenal and gonadal steroidogenesis and lipid droplet accumulation in steroidogenic cells. 46,XY patients with classic LCAH typically present with female-type external genitalia, while those with nonclassic LCAH have masculinized external genitalia. The rarity of the nonclassic form precludes the clarification of pubertal and reproduc...

Background: The MC2R gene (MC2R) encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalized hyperpigmentation at birth.Objective and hypotheses: The MC2R encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalised hyperpigmentat...

Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis that causes various symptoms such as skeletal malformations, disorders of sex development, and adrenal insufficiency. The aim of this study was to elucidate the clinical characteristics, especially age at diagnosis and treatment, of PORD from the perinatal period to adulthood in Japan. The first questionnaire was sent to 183 council members of the Japanese Society for Pediatric Endocrinology on 1...