Cushing Syndrome Caused by ACTH-independent Macronodular Adrenal Hyperplasia / 대한내과학회지

Adenocorticotropic hormone-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing's syndrome. It is characterized by multinodular enlargement of the adrenal glands and hypercortisolism. Although bilateral adrenalectomy is the standard therapy, unilateral adrenalectomy is an effective alternative. Here we present a case of a 71-year-old female referred to the Endocrinology Department for further evaluation of bilateral adrenal macronodular hyperplasia. Based on dynamic hormone tests and imaging studies, she was diagnosed with AIMAH. Due to persistent hypercortisolism, she underwent completion contralateral surgery after unilateral adrenalectomy. This case demonstrates that unilateral adrenalectomy should be considered in a patient presenting with obvious symptoms of hypercotisolism and relatively asymmetric adrenal enlargement.

Association between the Growth Hormone Receptor Exon 3 Polymorphism and Metabolic Factors in Korean Patients with Acromegaly

BACKGROUND: This study investigated the association between the frequency of growth hormone receptor (GHR) exon 3 polymorphism (exon 3 deletion; d3-GHR) and metabolic factors in patients with acromegaly in Korea. METHODS: DNA was extracted from the peripheral blood of 30 unrelated patients with acromegaly. GHR genotypes were evaluated by polymerase chain reaction and correlated with demographic data and laboratory parameters. RESULTS: No patient had the d3/d3 genotype, while four (13.3%) had the d3/fl genotype, and 26 (86.7%) had the fl/fl genotype. Body mass index (BMI) in patients with the d3/fl genotype was significantly higher than in those with the fl/fl genotype (P=0.001). Age, gender, blood pressure, insulin-like growth factor-1, growth hormone, fasting plasma glucose, triglycerides, high density lipoprotein cholesterol, and low density lipoprotein cholesterol levels showed no significant differences between the two genotypes. CONCLUSION: The d3-GHR polymorphism may be associated with high BMI but not with other demographic characteristics or laboratory parameters.

Case of Sarcoidosis-Related Hypercalcemia with Normal Serum 1,25(OH)2D / 대한내과학회지

Diagnosing hypercalcemia is often challenging because a wide spectrum of diseases-such as malignancy, granulomatous disease, and primary hyperparathyroidism-should be considered. Sarcoidosis is a rare cause of hypercalcemia. The case of a 77-year-old male presenting with sarcoidosis-associated hypercalcemia whose serum 1,25(OH)2D level was normal is reported here. Despite a normal 1,25(OH)2D level and minimally enlarged hilar lymphadenopathy, the serum angiotensin-converting enzyme (ACE) level was increased. Mediastinoscopic biopsy of the right lower paratracheal lymph node revealed pathological findings compatible with sarcoidosis. Treatment with 30 mg/day oral prednisone was started. Currently, the patient is being treated with a tapered dose of oral prednisone and small doses of vitamin D and calcium. Despite its low incidence, sarcoidosis should be considered a cause of hypercalcemia. The important diagnostic factors are not only serum calcitriol levels but also serum ACE levels and pathological findings.

A Case of Distal Renal Tubular Acidosis with Sjögren's Syndrome Presenting as Hypokalemic Paralysis / 계명의대학술지

Distal renal tubular acidosis (RTA) caused by autoimmune nephritis occurs in up to 25% of patients with Sjögren's syndrome. However, patients with hypokalemic paralysis are sometimes overlooked, because most symptoms of autoimmune nephritis in Sjögren's syndrome are mild. We present a case of hypokalemic paralysis in a 54-year-old female who also had dry eyes and mouth, and Raynaud's phenomenon. Further evaluation, including autoantibody tests, revealed distal RTA with Sjögren's syndrome as the cause of hypokalemia. Distal RTA diagnosis was made based on normal anion gap hyperchloremic metabolic acidosis, alkaline urine with positive urine anion gap, high transtubular potassium concentration gradient (TTKG), positive anti-La antibody, and symptoms of sicca complex. The patient's symptoms resolved following treatment with intravenous and oral potassium, immunosuppressants, and steroids. This case illustrates that distal RTA and Sjögren's syndrome should be considered in cases of hypokalemic paralysis.