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...