Endocrine Abstracts

A 60-year-old woman presented to the endocrine clinic with significant hirsutism and male-pattern baldness, progressive since the menopause 5 years earlier. She was otherwise fit and well. Testing revealed an elevated serum testosterone of 14.2 nmol/L. A CT scan revealed a large malignant 19 cm mass arising from the left adnexa, a large fibroid uterus and 2 small masses in the left kidney. Other abdominal organs were normal with no visible ascites. With the presumption of mali...

Background: Sporadic and familial autosomal dominant non-autoimmune hyperthyroidism (S/FANH) is caused by activating germline mutations in the TSH Receptor (TSHR) gene. These patients lack TSHR-Ab, show diffuse uptake on radionuclide thyroid scan and often lack positive family history due to variable penetrance. Because of these overlapping features, S/FANH is difficult to distinguished from Graves’ disease without autoimmune features. Ther...

Background: Sporadic and familial autosomal dominant non-autoimmune hyperthyroidism (S/FANH) is caused by activating germline mutations in the TSH Receptor (TSHR) gene. These patients lack TSHR-Ab, show diffuse uptake on radionuclide thyroid scan and often lack positive family history due to variable penetrance. Because of these overlapping features, S/FANH is difficult to distinguished from Graves’ disease without autoimmune features. Ther...