EP1499 - ECE_3014 - An atypical case of schmidt syndrome in a male without hyperpigmentation

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Abstract Introduction Schmidt syndrome is rare autoimmune disease with an estimated prevalence ranging from 1.4 to 4.5 cases per 100 000 inhabitants. It may occur at any age but is uncommon in children and after the age of 60, and it predominantly affects middle-aged women. Addison's disease is usually suspected in the presence of weight loss, hypotension, hypoglycemia, and cutaneous hyperpigmentation; however, hyperpigmentation may be absent, as illustrated in our patient. Case report A 35-year-old male presented with progressive asthenia worsening in the evening, anorexia, and weight loss of 6 kg over one month. Physical examination revealed blood pressure of 100/60 mm Hg, heart rate of 99 bpm, fasting blood glucose of 0.74 g/L. The patient exhibits no cutaneous hyperpigmentation and no melanotic macules of the oral mucosa. The diagnosis of primary adrenal insufficiency was confirmed by 8 a.m. serum cortisol level at 43 µg/L and ACTH levels raging from 30 to 35 pg/mL. The patient was treated with hydrocortisone leading to significant clinical improvement. Two months later, the patient presented with weight gain, asthenia, and constipation, with no goiter on physical examination. Thyroid function tests confirmed primary hypothyroidism with a TSH level of 48 mIU/L and positive anti-thyroid peroxidase antibodies at 59 IU/mL. Treatment with L-thyroxine was initiated, resulting in clinical and biological improvement. The patient was hospitalized multiple times for acute adrenal insufficiency, triggered by flu, with no skin hyperpigmentation observed after 5 years follow-up. Discussion Schmidt syndrome, defined by the association of Addison's disease with Hashimoto's thyroiditis, is known also as autoimmune polyglandular syndrome type 2. Addison's disease results from autoimmune destruction of the adrenal cortex resulting in an elevation of ACTH levels and its precursor, POMC, which stimulate melanocyte activity and cause melanoderma. However, hyperpigmentation may be absent in the very early stages of the disease, particularly when adrenal involvement is partial or when ACTH secretion is only moderately increased. Additionally, genetic factors may contribute to the absence of hyperpigmentation, especially in individuals with very fair skin or reduced melanogenic responsiveness.

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