Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: A new autosomal recessive syndrome

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Abstract
Congenital hypoplasia of the adrenal glands (CHA) is a rare conditions, 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.