A Non-classical Presentation of Schmidt’s Syndrome: A Rare and a Lethal Disease

Abstract

Schmidt's syndrome is a rare autoimmune endocrine disease in which the patient suffers from primary addison's disease and primary hypothyroidism. Currently, Schmidt's 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 Schmidt's 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 Schmidt's 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. To conclude, a high index of suspicion is needed for an early diagnosis and appropriate hormonal replacement therapy of Schmidt's syndrome, which is a rare disease, but is a life threatening condition if not diagnosed and treated early.

Atypical Case of Schmidt’s Syndrome in a Young Male

“…Moreover, these syndromes can present with non-endocrine autoimmune diseases such as alopecia, vitiligo, celiac sprue, and pernicious anemia [2,4,5]. APS is usually categorized into either a rare monogenic form called APS type 1 (APS-1), or a more common polygenic form called polyendocrine syndrome type 2 (APS-2), Schmidt's syndrome [1,2,4,5].…”

“…APS-1 is defined by the combination of at least two of three cardinal component diseases including chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency (Addison's disease). It is more prevalent in infancy, and often reports yeast infection of the mouth and nails as a first visible sign [1,2,5].…”

“…It has been found that Schmidt's syndrome is associated with major histocompatibility complex type 2 specifically DR3-DQ2 and DR4-DQ8. Consequently, Schmidt's syndrome has been linked to celiac disease, type 1 diabetes, autoimmune thyroid disease, and Addison's disease [1][2][3][4].…”

“…Schmidt's syndrome is a rare autosomal dominant disease that is more common in middle-aged females with a prevalence of 1.4 to 4.5 per 100,000 population [1][2][3][4][5][6]. It is defined by the presence of Addison's disease in combination with at least one of the known autoimmune diseases: thyroid autoimmune disease, type 1 diabetes, and primary hypogonadism [3][4][5].…”

“…Schmidt's syndrome is a life-threatening syndrome if not diagnosed and treated early. It is typically treated by separately treating each of its component's diseases with hormonal replacement therapy [1,[3][4][5].…”