Polyglandular Autoimmune Syndrome Type III with Primary Hypoparathyroidism
32-year-old female.\nGeneral weakness.\nShe was receiving insulin injections for type 1 diabetes, but her symptoms had not been improved at all, which prompted her decision to come to our hospital.\nShe had been using 32 U insulin every day for type 1 diabetes for 11 years before her visit to our hospital.\nAll family members, including both parents and all siblings, had diabetes.\nWhen she appeared, her blood pressure was 130/80 mm Hg, pulse rate was 74 beats per minute, and body temperature was 36.6℃. She had no other symptoms, except for general weakness and central obesity (body mass index 23.4 kg/m2). No tumor-like mass was checked at her head and neck, nothing was discovered in chest auscultation. When we checked her abdomen, neither any pain nor hepatosplenomegaly was observed. No skin or oral mucosa pigmentation was found. There was no edema in lower leg. The neurological examination results were also normal. She weighed 51.5 kg and was 148.2 cm tall, and she was somewhat short woman with a short neck and round face, similar to a clinical features of AHO, but there was no pathognomonic brachydactyly.\nThe result of complete blood count was the hemoglobin 9.3 g/dL, the erythrocyte average volume 96 fL, leukocyte 5,720/mm3, and platelets 310,000/mm. The results of anemia work up were the total iron binding capacity 447.5 µg/dL, serum ferritin 35.11 ng/mL, reticulocyte count 2.89%, average erythrocyte hemoglobin density 32.6 g/dL, and vitamin B12 839.65 pg/mL. Her blood glucose level was 212 mg/dL, the level of hemoglobin A1c was 7.3%, and the simultaneous measurement of serum level of C-peptide showed decreased level of 0.13 ng/mL. Serum concentration of total calcium were 5.5 mg/dL (range, 8.7 to 1.4); ionized Ca 1.56 mg/dL (range, 2.3 to 2.58); phosphorus 6.7 mg/dL (range, 2.5 to 4.5); total protein 6.7 g/dL; albumin 3.3 g/dL; alkaline phosphatase 329 IU/L; aspartate aminotransferase 119 IU; alanine aminotransferase 65 IU/L. Intact PTH level was 13.32 pg/mL (range, 13 to 54). Serum adrenocorticotropic hormone (ACTH) and cortisol levels were 11.92 pg/mL (range, 10 to 60) and 0.94 (range, 9.4 to 26.1). The results of rapid ACTH stimulation test for adrenal function were normal. The results of thyroid function test were T3 99.01 ng/mL, free T4 0.85 µg/dL, and thyroid stimulating hormone 7.99 µIU/mL. The results for antimicrosomal and antithyroglobulin antibody were positive (52.91 IU/mL, 132.57 IU/mL), and, both islet cell antibody and antiglutamic acid decarboxylase antibody tested negative. In the Ellsworth-Howard examination, urinary phosphoric acid was slightly increased (12.3 mg/dL) and the increase of cyclic adenosine monophosphate (cAMP) was sufficient (4,400 µmol/mL). There was no GNAS mutation. Serum levels of sodium, potassium, blood urea nitrogen, and creatinine were within normal limits at 144 mmol/L, 5.3 mmol/L, 8.2 mg/dL, and 1.0 mg/dL.\nThe chest X-ray showed no abnormal lesion. An brain computed tomography scan showed prominent calcifications in both basal ganglion and hypothalamus (). The thyroid sonogram discovered several nodules, sized 4.5×3.7 mm and 3.9×2.9 mm on each side that were suspected to be thyroid papillary cancer.\nThe patient came to the hospital experiencing general weakness, and she was diagnosed with hypocalcaemia on laboratory examination. At that time, both the levels of PTH and vitamin D were within normal range, but she had previously experienced spasm symptoms and the levels of previous intact PTH were low (4.38 to 10.66 pg/mL) 7 years ago. She has taken oral calcium medicine for treatment of idiopathic hypoparathyroidism because she had no underlying secondary disorders for hypocalcemia and low PTH level. Although she has no pathognomonic brachydactyly, her appearance was similar to AHO in clinical features including short stature, intelligence decline, round face, calcification on basal ganglion and hypothalamus, or obesity. Furthermore, she had a lower normal PTH level and hypocalemia on admission, and we decided to investigate the PTH resistance to identify PHP Ia or PPHP with AHO. In the Ellsworth-Howard examination for investigation of the PTH resistance, it was confirmed that there was no PTH resistance at the kidney and there was no sign of GNAS mutation. We diagnosed this case as hypocalcemia due to idiopathic hypoparathyroidism for lower serum calcium and traced intact PTH levels and began calcium and calcitriol medicine to treat the hypocalcaemia. Subsequently, her symptoms were improved with normalization of ionized Ca at 2.32 mg/dL (range, 2.3 to 2.53). The results of fine needle aspiration on two nodules of thyroid were suggestive malignancy and she underwent a total thyroidectomy. The biopsy results were papillary microcarcinoma with lymphocytic thyroiditis for two suspicious nodules (sized 1.5×1.0 cm on the left and 2.0×1.0 cm on the right). Among the four parathyroid glands, the left inferior parathyroid gland was not discovered, and the remaining three parathyroid glands were remained during surgery. We used levothyroxine 0.05 mg medication for Hashimoto thyroiditis and insulin determir 12 U and aspart 16 U for glucose control.