Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.
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.
Burke
B A
BA
Department of Laboratory Medicine, University of Minnesota, Minneapolis 55455.
Wick
M R
MR
King
R
R
Thompson
T
T
Hansen
J
J
Darrae
B T
BT
Francke
U
U
Seltzer
W K
WK
McCabe
E R
ER
Scheithauer
B W
BW
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
D007987:Gonadotropin-Releasing Hormone; D007986:Luteinizing Hormone; D005991:Glycerol Kinase