title: Brain development and cognitive, psychosocial, and psychiatric functioning in classical 21-hydroxylase deficiency.
abstract: The disturbance of the hypothalamic-pituitary- adrenal axis characteristic of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is likely to affect brain development, yet neuroanatomic work is only beginning. Fetal hyperandrogenemia in 46, XX 21-OHD leads to masculinized brain organization and, consequently, at later stages of development, to masculinized gender-related behavior and cognitive function, including, although relatively uncommonly, gender identity. Genital masculinization as well as its surgical treatment has implications for social stigmatization and sexual functioning. CAH-associated electrolyte crises in infancy and later may result in severe cognitive impairment. Psychiatric disorders are somewhat increased, especially in patients with severe degrees of CAH.
authors.affiliation: NYS Psychiatric Institute/Department of Psychiatry, Columbia University, New York, N.Y., USA.
authors.forename: Heino F L
authors.initials: HFL
authors.lastname: Meyer-Bahlburg
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology / Q000523:psychology; D001921:Brain / Q000254:growth & development*; D003071:Cognition / Q000502:physiology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D001523:Mental Disorders / Q000453:epidemiology / Q000209:etiology; D008603:Mental Health; D011247:Pregnancy; D013255:Steroid 21-Hydroxylase / Q000235:genetics
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase