The 4A syndrome association with osteoporosis.
4A syndrome is characterised by adrenocortical insufficiency, achalasia, alacrima, autonomic and other neurological abnormalities. We report an 18-year-old boy with 4 A syndrome and having all classical features of the disease including sensorimotor neuropathy. In addition, the patient had low aldosterone levels and signs of osteoporosis, which apparently developed without glucocorticoid replacement therapy. Although it is speculated that the lack of local growth factors, nutritional deficiency secondary to achalasia or receptor abnormalities regarding bone metabolism contribute to osteoporosis, its etiopathogenesis still needs to be clarified.
Ozgen
A G
AG
Department of Endocrinology, Ege University Faculty of Medicine, Bornova-Izmir, Turkey.
Ercan
E
E
Ozütemiz
O
O
Hamulu
F
F
Bayraktar
F
F
Yilmaz
C
C
D000293:Adolescent; D000309:Adrenal Insufficiency / Q000150:complications*; D001342:Autonomic Nervous System Diseases / Q000150:complications*; D015519:Bone Density; D004576:Electromyography; D004935:Esophageal Diseases / Q000150:complications*; D004943:Esophagogastric Junction; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000150:complications*; D008297:Male; D010024:Osteoporosis / Q000150:complications*; D013577:Syndrome