Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.
A family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characterized by a Duchenne type muscular dystrophy, growth failure and severe mental retardation. Laboratory investigations revealed deficient activities of gonadotrophin and glycerol kinase. The clinical, biochemical and genetic findings in ths exceptional family are reported and discussed.
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005991:Glycerol Kinase / Q000172:deficiency*; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010770:Phosphotransferases / Q000172:deficiency*; D014960:X Chromosome
D010770:Phosphotransferases; D005991:Glycerol Kinase