Introduction: Autoimmune polyglandular syndrome APS type 2 is a rare polygenic disease associationg endocrine autoimmune affection but also other auto immune diseases. The chronology is variable. We report in this context a case of APS associating a Hashimoto thyroiditis, a premature ovarian deficiency and an Addison disease revealed later.
Case Report: A 33 year-old women consulted in 2018 for asthenia and spaniomennorrhea. The diagnosis of peripheral hypothyroiditis was retained. Antibodies Ab anti thyroperoxydase were positive. It was a Hashimoto thyroiditis. The patient was treated with levothyroxine. Menstrual disturbance persisted. Gonadic assessment was performed showing low oestradiol and an elevated FSH. Premature ovarian insufficiency was retained. Iatrogenic causes were excluded in anamnesis. There were no signs for genetic causes as a dysmorphic syndrome. A auto immune origin is the most probable etiology. She was treated with oesro-progestatif hormonal therapy. Four years later, she consulted the emergency department for asthenia, abdominal pain and vomiting. Hyponatremia with kaliema at the upper range were objectified. Peripheral adrenal insufficency was confirmed by a low cortisol at 66 nmol/l (n>138 nmol/l) and an elevated ACTH at 440 pmol/l. She was treated with parenteral hydrocortisone HC relayed with oral HC 25 mg divided into 2 doses. Aldosteron level was low. A treatement with Fludrocortisone was associated. CT Scan showed atrophic adrenal glands without calcifications. The Ab anti 21 hydroxylase were positive at 6.6 U/ml (n<0.4). Type 2 APS was retained. In the screening for the other auto immune affection, there was no signs of vitiligo, no chronic diarrhea, ab anti transglutaminase were negative. No diabetes. No arthralgia or other signs of systemic affection. Normocytaire anemia was present, vitamine B12 was normal but ab anti parietal cell were positive. A gastroscopy was prescribed searching for gastric atrophia as part of Biermer disease. The patient were referred for a genetic study. Results are pending.
Comments and Conclusions: APS type 2 is a genetic disease, implicating several genes, as genes coding to class II major histo-compatibility complex, Cytotoxic T Lymphocyte Associated Antigen-4 and others. The presence of two auto immune gandular affections, must incitate clinicians to look for other auto immune affection either endocrinopathie or systemic diseases. As shows our case report, the disease may appear at any time. So that, auto immune screening should not be overlooked during follow up, especially addison disease which is a life threatining affection.
13 May 2023 - 16 May 2023