Aarskog syndrome with isolated growth hormone deficiency.
A 5-year-old male with the Aarskog syndrome is described. He had abnormal facies, short stature, short fingers with interdigital webbing, a saddle type scrotum and mild mental retardation. In addition, he had isolated growth hormone deficiency as evidenced by the insulin, arginine, and propranolol-glucagon tests. An arginine test after short-term stimulation with estrogen further supported this diagnosis. His mother had minor abnormalities of the hands and feet, and slight mental retardation.
D002675:Child, Preschool; D004392:Dwarfism / Q000175:diagnosis*; D005385:Fingers / Q000002:abnormalities; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D012611:Scrotum / Q000002:abnormalities; D013577:Syndrome
D013006:Growth Hormone