Endocrine Abstracts

Background: Although the majority of cases of hyperandrogenism in postmenopausal women are due to functional causes, the sudden appearance of a severe and rapidly progressive condition, especially if associated with signs of virilization and defeminization, requires always ruling out the existence of an androgen-producing tumor at both the adrenal and ovarian levels. Etiological diagnosis can be difficult because ovarian tumors are not easily demonstrable by imaging.<p cla...

Background: Hyperparathyroidism jaw-tumor syndrome (HPT-JT) is a rare and underdiagnosed cause of familial primary hyperparathyroidism (incidence <1/1000000). It is caused by a pathogenic variant in the CDC73 (or HRPT2) gene that encodes parafibromin. Patients with HPT-JT have a 15–20% risk of developing parathyroid carcinoma. Other related conditions are jaw tumors in 30% of cases, kidney abnormalities in 15% of cases, and uterine tumors in 50% of c...