ABSTRACT
Isolated ACTH deficiency (IAD) is a rare entity characterized by secondary adrenal insufficiency with low levels of serum cortisol, decreased production of ACTH, adequate secretion of other pituitary hormones and normal pituitary structure on radioimaging. The prevalence of IAD as a cause of secondary adrenal insufficiency has not been determined. Impairment of growth hormone (GH) secretion has been noted in 20 to 30% of patients with IAD which is normalized after glucocorticoid replacement. We report the case of a 50 years-old female with symptoms and laboratory results suggestive of adrenal insufficiency. Insulin tolerance test confirmed ACTH and growth hormone deficiency. The rest of the anterior pituitary hormones were normal. A pituitary MRI was unremarkable. Glucocorticoid replacement therapy started and eight months afterwards glucagon stimulation test revealed persistent ACTH deficiency but nor- mal growth hormone secretion. IAD can present with nonspecific symptoms and could be potentially fatal in an acute stressful period. Prompt recognition is essential to decrease morbidity and mortality.
Subject(s)
Adrenocorticotropic Hormone/deficiency , Endocrine System Diseases/complications , Genetic Diseases, Inborn/complications , Glucocorticoids/administration & dosage , Human Growth Hormone/deficiency , Hypoglycemia/complications , Insulin Resistance , Endocrine System Diseases/diagnosis , Female , Genetic Diseases, Inborn/diagnosis , Hormone Replacement Therapy/methods , Humans , Hypoglycemia/diagnosis , Middle AgedABSTRACT
A 54-year-old man was seen in our endocrinology clinic with evidence of a limited range of motion in his left foot. He had a history of diabetes mellitus type 2 and atrial fibrillation. His family history included evidence of skeletal deformities in some of his relatives. This could imply the potential existence of a hereditary condition. It is worth noting that spontaneous mutations have been reported in some cases. A pertinent physical examination revealed a surgical scar on the patient's left knee, a hallux valgus deformity on his left foot with compromised joint function, and painless bony prominences on that same foot. The skeletal survey findings were consistent with multiple hereditary exostoses. Multiple osteochondromatosis (MO) is a rare genetic disorder associated with serious complications that may significantly affect the health related quality of life of anyone having the disorder. To prevent further complications, these patients require long-term follow-up with regular clinical and radiological examinations.
