Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production.
Isolated glucocorticoid failure associated with achalasia of the cardia is described in two pairs of siblings in separate families. Defective tear production is also present in three of the patients, and one shows other signs of autonomic dysfunction. Two other families with adrenal insufficiency and achalasia are known. This unusual association probably represents a familial disorder of as yet unknown aetiology.
D000304:Adrenal Cortex Function Tests; D000309:Adrenal Insufficiency / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004931:Esophageal Achalasia / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000172:deficiency*; D007766:Lacrimal Apparatus Diseases / Q000150:complications / Q000235:genetics*; D008297:Male; D013577:Syndrome; D013666:Tears / Q000378:metabolism*
D006854:Hydrocortisone