A teen arrived at the emergency room with an array of symptoms, including vomiting, recent unexplained weight loss, and unusual thirst. It turned out she had an uncommon autoimmune syndrome. (Image credit: Douglas Sacha via Getty Images) Share this article 0 Join the conversation Follow us Add us as a preferred source on Google Newsletter Sign up for the Live Science daily newsletter now Get the world’s most fascinating discoveries delivered straight to your inbox.
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Explore An account already exists for this email address, please log in. Subscribe to our newsletterThe patient: A 17-year-old girl in California
The symptoms: The teenager went to an emergency department after experiencing vomiting episodes for about a day. Over the prior three months, she'd also had periodic shortness of breath accompanied by tightness in her chest.
Doctors learned that the patient had also experienced unusual thirst, excessive urination, unexplained weight loss and fatigue. Based on these symptoms and the high blood sugar, the doctors determined the patient likely had type 1 diabetes and admitted her to the pediatric department for further tests.
They started her on a conservative dose of insulin, but despite that, she often experienced low blood sugar in the mornings. And despite low fluid intake, she still urinated a lot, which is a characteristic symptom of uncontrolled diabetes.
The patient's mother also told doctors that the teen generally tended to "tan easily," though she didn't happen to have a tan at the time of the hospitalization.
"Given her atypical course and persistent findings," the doctors began looking into additional diagnoses that might explain these symptoms, they wrote in a report of the case.
Sign up for the Live Science daily newsletter nowContact me with news and offers from other Future brandsReceive email from us on behalf of our trusted partners or sponsorsThe diagnosis: They considered whether the symptoms pointed to Addison's disease, which affects the adrenal glands located above the kidneys. These glands normally produce hormones that help control the stress response, blood pressure and water-salt balance in the body, but in patients with Addison's, they don't make enough of the hormones. This is most often caused by an autoimmune response, in which the immune system attacks the adrenal glands and undermines their function.
Tests showed that the patient carried antibodies against the adrenal glands, suggesting that such an autoimmune response was unfolding. Additionally, she had high levels of adrenocorticotropic hormone (ACTH), a signal the brain sends out in an attempt to crank up the activity of the adrenal glands; and renin, which the kidneys make when the body's water-salt balance is off.
At the same time, the brain also releases more of a hormone that drives up pigmentation in the skin, which can cause it to "tan."
These findings confirmed diagnoses of both type 1 diabetes and Addison's disease. Together, these diseases point to another, relatively rare condition called autoimmune polyendocrine syndrome type 2 (APS-2). This syndrome affects various hormone-making glands and is estimated to affect about 1.5 to 2 in 100,000 people.
The treatment: The patient received both short-acting and long-acting insulin to manage her diabetes. For Addison's disease, she was given a number of steroids to help boost levels of two key hormones: cortisol and aldosterone. These hormones, which are normally made by the adrenal glands, work together to manage blood pressure, fluid balance and stress responses. "This dose [of steroids] has been managing her symptoms well thus far," her doctors wrote.
Within two months of her diagnosis, she had begun gaining weight, her blood sugar levels had improved, and her ACTH and renin levels had normalized.
"Symptomatically, she has improved," the doctors wrote; "however, given the diagnosis [of] two autoimmune disorders requiring lifelong treatment, she has benefited from the emotional support from a counselor to cope with her new diagnoses and psychosocial stressors at home."
What makes the case unique: APS-2 is a relatively rare diagnosis, characterized by Addison's disease appearing alongside either type 1 diabetes, an autoimmune thyroid disease, or both.
The exact cause of the syndrome is not fully understood, but it has been tied to a number of gene variants, as well as environmental risk factors. Its presentation varies from patient to patient because different organs can be affected in each case. Patients often face delays in diagnosis due to this variation in disease presentation, the case reported authors noted.
"This case is unique because both diseases were diagnosed at the same time of presentation," they noted. "There are few cases that reported the concurrent diagnosis of T1DM [type 1 diabetes mellitus] and Addison's disease at initial presentation."
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The case highlights the importance of screening patients with type 1 diabetes for additional autoimmune diseases, the doctors concluded. "Unexplained persistent electrolyte abnormalities" could raise a flag to screen for Addison's, they said, and that screening may include looking for adrenal antibodies, as they did in this case.
"Early detection could help prevent adrenal crisis, reducing morbidity and mortality associated with Addison's disease," they wrote.
For more intriguing medical cases, check out our Diagnostic Dilemma archives.
DisclaimerThis article is for informational purposes only and is not meant to offer medical advice.
Article SourcesTowslee, E., Macdonald, A., & Shoar, Z. (2024). A patient diagnosed with new-onset type 1 diabetes and Addison’s disease at initial presentation. Endocrinology, Diabetes & Metabolism Case Reports, 2024(2). https://doi.org/10.1530/edm-23-0106
Nicoletta LaneseChannel Editor, HealthNicoletta Lanese is the health channel editor at Live Science and was previously a news editor and staff writer at the site. She is a recipient of the 2026 AHCJ International Health Study Fellowship, with a project focused on antibiotic stewardship practices in Japan and the U.S. They hold a graduate certificate in science communication from UC Santa Cruz and degrees in neuroscience and dance from the University of Florida. Beyond Live Science, Lanese's work has appeared in The Scientist, Science News, the Mercury News, Mongabay and Stanford Medicine Magazine, among other outlets. Based in NYC, she also remains involved in dance and performs in local choreographers' work.
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