Introduction: Multiple autoimmune syndrome (MAS) type 3 is characterized by the coexistence of autoimmune thyroid disease with other organ-specific or systemic autoimmune disorders, excluding adrenal insufficiency. MAS represents a form of polyautoimmunity, in which shared immunological mechanisms contribute to clustering of multiple autoimmune diseases within a single individual. Recent studies suggest the clinical spectrum of MAS continues to expand, with increasing recognition of diverse autoimmune combinations across different organ systems. However, detailed clinical characterization of MAS type 3 involving overlapping endocrine and neuromuscular autoimmune diseases in young adults remains limited. Cases: We report four young adults (aged 21–37 years) with heterogeneous manifestations of MAS type 3 involving endocrine and systemic autoimmune diseases. Autoimmune thyroid disease was identified in three patients, all diagnosed with Graves’ disease with suppressed thyroidstimulating hormone, elevated free thyroxine, and positive thyrotropin receptor antibodies. Autoimmune diabetes was present in three patients, including latent autoimmune diabetes in adults (LADA) and type 1 diabetes mellitus, with variable glycemic control (hemoglobin A1c range 6.7–13.9%) and C-peptide levels ranging from preserved to markedly reduced. Myasthenia gravis was observed in three patients. Additional autoimmune conditions included systemic lupus erythematosus, systemic sclerosis, rheumatoid arthritis, and ulcerative colitis. Notably, rare combinations such as Graves’ disease with LADA and myasthenia gravis, as well as coexistence with systemic autoimmune diseases, were identified. All patients received individualized multidisciplinary management. Clinical and biochemical improvement was observed in all cases, with stabilization of both endocrine and systemic autoimmune manifestations. Conclusion This case series highlights the heterogeneous and expanding clinical spectrum of MAS type 3, including rare combinations of autoimmune endocrine and systemic diseases in young adults. Early recognition of autoimmune clustering and comprehensive screening are essential to optimize management and improve outcomes. These findings provide insights into autoimmune disease clustering and support the need for proactive multidisciplinary management strategies.
Young Adult ; Humans ; Autoimmune Diseases

Introduction: Thalassemia is a hemoglobin synthesis disorder associated with chronic anemia and transfusion-related iron overload, which predisposes patients to multiple endocrine complications. Iron deposition in the pituitary and gonads may result in growth hormone deficiency (GHD) and hypogonadism. Empty sella syndrome (ESS), characterized by herniation of the subarachnoid space into the sella turcica, may also contribute to hypopituitarism. The coexistence of thalassemia-related endocrinopathies, ESS, and autoimmune thyroid disease is rare and presents significant diagnostic complexity. Case: A 27-year-old female with transfusion-dependent thalassemia on deferiprone presented with secondary amenorrhea and short stature. Her height was 145 cm (below the target range of 140.5–157.5 cm), body mass index 17.3 kg/m², and Tanner stage M3P1. Laboratory evaluation revealed elevated thyroidstimulating hormone (10.92 mIU/L) with low-normal free thyroxine 4 (11.4 pmol/L), consistent with primary hypothyroidism. Thyroid ultrasound demonstrated features of chronic thyroiditis, and anti-thyroid peroxidase antibodies (8.18 IU/mL) supported a diagnosis of Hashimoto’s thyroiditis. Insulin-like growth factor-1 was markedly reduced (68 ng/mL), indicating GHD. Morning cortisol was within normal range (14.5 µg/dL). Gonadotropins were inappropriately low-normal (folliclestimulating hormone 7.42 mIU/mL, luteinizing hormone 11.41 mIU/mL) with low estradiol (26.49 pg/mL), suggesting hypogonadotropic hypogonadism. Skeletal survey showed thalassemia-related bone changes, including trabecular coarsening and metaphyseal widening, with a predicted adult height of 142.7 cm. Pituitary magnetic resonance imaging revealed an empty sella. Conclusion Thalassemia must be recognized not only as a primary hematologic condition but also as a complex multisystem disorder with profound endocrine implications. Furthermore, the co-occurrence of these conditions with rare manifestations such as ESS and Hashimoto’s thyroiditis underscores the diagnostic complexity faced by clinicians. Therefore, early detection and rigorous, regular endocrine screening are essential to optimize management strategies and improve the long-term quality of life for patients with thalassemia.
Empty Sella Syndrome ; Growth Hormone ; Thalassemia ; Thyroiditis