Abstract Search

ea0081p444 | Reproductive and Developmental Endocrinology | ECE2022

Use of selective venous vein sampling in postmenopausal women with hyperandrogenism of unclear aetiology

Romero Gregori Ana , Gimenez Olga , Capel Ismael , Subias David , Marcouchi Saad , Costa Laura , Perendreu Juan , Berlanga Eugenio , Rigla Mercedes

Background: Hyperandrogenism is infrequent in menopause, being the most common cause benign pathologies. However, it can also be produced by an ovarian or adrenal tumour. Correct diagnosis and location can be challenging because small lesions may not be visible with modern imaging studies. We report a case of ovarian stromal hyperplasia where selective venous catheterization and hormonal sampling were performed to find the origin of excessive androgen production.<p class="...

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ea0099ep8 | Calcium and Bone | ECE2024

Novel germline variant of CDC73 identified during screening for familial primary hyperparathyroidism

Muntean Andreea , Mazarico Altisent Isabel , Capel Flores Ismael , Casamitjana Espuna Laia , Hernandez Lazaro Alba , Barcons Vilaplana Santiago , Guirao Garriga Xavier , Baena Diez Neus , Romero Gregori Ana , Bella Burgos Berta , Arsentales Montalva Valeria , Jover Gornall Judith , Rigla Cros Mercedes

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 1520% 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...

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Endocrine Abstracts

Use of selective venous vein sampling in postmenopausal women with hyperandrogenism of unclear aetiology

Novel germline variant of CDC73 identified during screening for familial primary hyperparathyroidism

BiosciAbstracts