EFFECT OF THE MENARCHE ON HEPATOMEGALY IN AN APUBESCENT GIRL WITH A SYNDROME RESEMBLING GLYCOGEN DISEASE

SINCE the syndrome called glycogen disease was first described twenty years ago (1), a number of patients with this disease have been reported. The majority of these patients died in infancy or childhood. To our knowledge, only 12 patients have been reported, 8 females and 4 males, who had reached the age at which adolescence is normally expected to occur (2–8). This process was delayed, as manifested by apubescence or hypopubescence in all but one; a girl, who was described by Crawford (4) as being “normally developed mentally and sexually” at 15 years of age. Since no specific studies were reported on this girl, the diagnosis is uncertain. Worster-Drought (8) described a girl whose progress he followed for fifteen years. She was retarded in growth and sexual development. At age 15 the liver began to decrease in size; at 17 pubescence began and the liver was no longer palpable. By age 22 she had attained normal height and had a slight acetonuria but no hepatomegaly. Van Creveld (5) studied a boy for seve...