Endocrine Abstracts

Thyroid peroxidase(TPO) deficiency due to biallelic TPO mutation is known as a representative genotype of congenital hypothyroidism (CH). CH is a congenital endocrine disorder that appears in 1/2,000 to 4,000 newborns. In most cases CH is caused by embryogenesis of the thyroid but the minority is caused by errors in thyroid metabolism. TPO mutation is known as a cause of rare genetic defects in thyroid metabolism. We hereby report a new homozygous TPO mutation (9491; ex 11; c....

We hereby report a rare case of hypercalcemia-associated with dysgerminoma with elevation of 1,25(OH)2 Vitamin D. A 27-year-old nulliparous woman presented with hypercalcemia during examination of a right ovarian tumour. As the serum calcium level increased gradually, she started complaining of nausea and anorexia. The laboratory data at first-visit showed that serum calcium, LDH, ALP, 1,25(OH)2 Vitamin D and fractional excretion of calcium were elevated and intact PTH was sup...

We hereby report a rare case of ectopic adrenocorticotropic hormone (ACTH) syndrome due to recurrence of olfactory neuroblastoma which has few published reports. The female patient had surgery of olfactory neuroblastoma at 31 years old without the symptom of Cushing’s syndrome. Hypercortisolemia during treatment for recurrence of olfactory neuroblastoma were observed at 40 years old. The clinical findings were as followed; full moon face, central obesity, buffalo hump, an...

Primary aldosteronism is a frequent cause of secondary hypertension, with early diagnosis being important for appropriate treatment and minimizing the risk of organ damage due to excessive aldosterone. Treatment, however, varies for unilateral and bilateral primary aldosteronism, with oral aldosterone antagonist being the treatment of choice for the bilateral form and adrenalectomy, for the unilateral form. As surgical treatment for unilateral primary aldosteronism is effectiv...