Autoimmune polyendocrine syndrome: a case-based review.

You are seeing a 14-year-old white male athlete with atopy who complains of a 6-month history of progressive proximal muscle weakness, which significantly impacts his ability to run short distances and swing his baseball bat. His mother states he has presented to multiple emergency departments (ED) for continued weakness and that most diagnosed him with dehydration and educated the family on how to maintain fluid balance. At his last ED visit, a creatine kinase (CK) level was drawn and found to be elevated at 1,247 U/L (normal range 9-185 U/L). A referral to a neurologist was made. The neurologist noted worsening fatigue, dizziness, and a documented 17-pound weight loss at the patient’s initial visit. A possible infectious versus progressive inflammatory myositis was suspected. The neurologist recommended an electromyography (EMG) to evaluate the patient’s proximal muscle weakness. Prior to completion of this EMG, the teen presents to your clinic now complaining of pre-syncopal events. On further review of symptoms, you note the patient has persistent polydipsia, headaches, nausea/vomiting, intermittent abdominal pain, and hyperpigmentation. Family history is negative for myopathies or dystrophies, but positive for hypothyroidism (mother), pineal gland tumor s/p resection (father), and rheumatoid arthritis (maternal grandmother). PHYSICAL EXAMINATION Initial physical examination reveals an afebrile, thin, adolescent male with orthostatic blood pressure changes of 113/59 mm Hg at rest and 89/44 mm Hg while standing; a pulse of 87 beats/ min; and a respiratory rate of 16 breaths/ min. His HEENT exam reveals equally reactive pupils with moist mucous membranes and no thyromegaly. His neurologic exam including cranial nerves, mental status, speech, gait, and coordination is unremarkable; there is no tremor noted. His muscle strength is noted to be 4/5 in the quadriceps bilaterally but 5/5 throughout the rest of his muscle groups. His muscle bulk and tone are mildly decreased. His cardiovascular, pulmonary, and abdominal exams are all benign. He has physiologic pubertal gynecomastia with mild tenderness. His genitourinary examination reveals normal appearing Tanner 3 male genitalia. His skin exam is remarkable for diffuse hyperpigmentation, which extends into his intertriginous areas and most notably the palms and creases of his hands. Flexor surfaces on his arms and diffuse areas on his face show ecAutoimmune Polyendocrine Syndrome: A Case-Based Review