title: Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.
abstract: Congenital hypoplasia of the adrenal glands (CHA) is a rare condition, particularly in the absence of a central nervous system (CNS) anomaly. Two major types of CHA have been described in the setting of an apparently normal CNS and pituitary: a cytomegalic type usually with X-linked recessive inheritance and a miniature adult type that, when hereditary, is an autosomal recessive trait. Glycerol kinase deficiency (GKD) is an X-linked recessive trait, and it may be associated with CHA and adrenal insufficiency, presumably because of deletion of adjacent X-linked loci. We report on three sibling infants, one male and two females, with normal CNS and lethal CHA of the miniature adult type, selective absence of pituitary LH; two of the infants also had glycerol kinase (GK) activity that was decreased but not in the GKD range. Restriction fragment length polymorphism (RFLP) analysis of X chromosome markers located at Xp21-p22 was carried out on the maternal grandfather, both parents, two of three affected infants, and a living normal brother. The results excluded the X-linked type of this disorder associated with GKD in this family. Autosomal recessive inheritance is most likely.
authors.affiliation: Department of Laboratory Medicine, University of Minnesota, Minneapolis 55455.
authors.forename: B A
authors.initials: BA
authors.lastname: Burke
authors.forename: M R
authors.initials: MR
authors.lastname: Wick
authors.forename: R
authors.initials: R
authors.lastname: King
authors.forename: T
authors.initials: T
authors.lastname: Thompson
authors.forename: J
authors.initials: J
authors.lastname: Hansen
authors.forename: B T
authors.initials: BT
authors.lastname: Darrae
authors.forename: U
authors.initials: U
authors.lastname: Francke
authors.forename: W K
authors.initials: WK
authors.lastname: Seltzer
authors.forename: E R
authors.initials: ER
authors.lastname: McCabe
authors.forename: B W
authors.initials: BW
authors.lastname: Scheithauer
mesh_terms: D000311:Adrenal Glands / Q000473:pathology; D000309:Adrenal Insufficiency / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D002898:Chromosomes, Human, Pair 8; D005260:Female; D005796:Genes; D005808:Genes, Recessive; D005991:Glycerol Kinase / Q000032:analysis; D007987:Gonadotropin-Releasing Hormone / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007986:Luteinizing Hormone / Q000172:deficiency*; D008297:Male; D010375:Pedigree; D010902:Pituitary Gland / Q000473:pathology*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D013577:Syndrome
chemical_list: D007987:Gonadotropin-Releasing Hormone; D007986:Luteinizing Hormone; D005991:Glycerol Kinase