• Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic fades, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency.
Wise JE, Matalon R, Morgan AM, McCabe ERB. Phenotypic Features of Patients With Congenital Adrenal Hypoplasia and Glycerol Kinase Deficiency. Am J Dis Child. 1987;141(7):744-747. doi:10.1001/archpedi.1987.04460070046020