A Non-classical Presentation of Schmidts Syndrome: A Rare and a Lethal Disease

Abstract

Schmidt's syndrome is a rare autoimmune endocrine disease in which the patient suffers from primary addisons disease and primary hypothyroidism. Currently, Schmidts Syndrome has been classified as a part of the inheritable Polyglandular Autoimmune Syndromes (PAS). It is more common in females and has a complex inheritance pattern when familial (50%). Though it is treatable if diagnosed early, but many patients die within one year of being diagnosed. A 25 year-old male with a known history of adrenal insufficiency, hypothyroidism, and hypopituitarism presented with weakness, confusion and fainting spells since 3 weeks. A physical examination revealed vitiligo on the digits. Laboratory investigations showed elevated TSH, decreased testosterone and decreased ACTH, all consistent with a diagnosis of Schmidts syndrome. He was started on appropriate hormone replacement therapy Adrenal insufficiency was treated earlier and followed by treatment of thyroid insufficiency. The patient improved and is on a regular follow up. We report a unique case as our patient is a young male, who rarely present with Schmidts syndrome. He did not have Type I diabetes, but developed Growth Hormone (GH) deficiency. Moreover PAS Type II is often inherited in an autosomal dominant pattern, while in our patient there was no family history of PAS. There are very few case reports in literature of atypical presentations of Schmidt's syndrome which can add to the literature to help in earlier diagnosis and better outcomes of such patients.




J Endocrinol Metab. 2013;3(3):70-72
doi: https://doi.org/10.4021/jem174w