endocrine and metabolic disorders
Polyglandular Deficiency Syndromes
Diagnosis of Polyglandular Deficiency Syndromes
Measurement of hormone levels Sometimes autoantibody titers Diagnosis of polyglandular deficiency syndromes is suggested clinically and confirmed by detecting deficient hormone levels. Other causes of multiple endocrine deficiencies include hypothalamic-pituitary dysfunction and coincidental endocrine dysfunction due to separate causes (eg, tuberculous hypoadrenalism and nonautoimmune hypothyroidism in the same patient or Sarcoidosis involving multiple endocrine glands). Type 1 polyglandular deficiency is associated with autoantibodies against type 1 interferons, and presence of these antibodies suggests the diagnosis, which can be confirmed by mutational analysis of theAIREgene. Detecting autoantibodies to each affected glandular tissue can help differentiate polyglandular deficiency syndromes from the other causes, and elevated levels of pituitary tropic hormones (eg, thyroid-stimulating hormone) suggest the hypothalamic-pituitary axis is intact (although some patients with type 2 polyglandular deficiency syndrome have hypothalamic-pituitary insufficiency). Because decades may pass before the appearance of all manifestations, lifelong follow-up is prudent; unrecognized hypoparathyroidism or adrenal insufficiency can be life threatening. Relatives should be made aware of the diagnosis and screened when appropriate. A trial following relatives of patients with type 1 diabetes for development of autoimmunity found antibodies associated with type 1 diabetes, celiac disease, and/or thyroid disease in 21.5% of subjects ( Diagnosis reference ). 1.Winkler C, Jolink M, Knopff A, et al: Age, HLA, and sex define a marked risk of organ-specific autoimmunity in first-degree relatives of patients with type 1 diabetes.Diabetes Care42:1684–1691, 2019. doi: 10.2337/dc19-0315 