Abstract Library

#2176 New MENIN Mutation Associated with Familial Isolated Hyperparathyroidism. Clinical Case of Three Young Sisters.

Introduction: The primary hyperparathyroidism (PHPT) is a sporadic disorder in the majority of cases, and only 5-10% of cases are associated with familial syndromes. The following familial syndromes associated with PHPT are known to date: multiple endocrine neoplasia type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism (NSHPT) and familial isolated hyperparathyroidism (FIHP). FIHP is defined as hereditary PHPT without the association with other diseases or tumors and may be caused by mutations in MEN1, HRPT2, or CASR genes.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Krupinova K

Authors: Mokrysheva N, Krupinova J, Eremkina A, Tiulpakov A,

Keywords: primary hyperparathyroidism, familial isolated hyperparathyroidism, familial syndromes, MEN1, parathyroid hyperplasia,

#2156 Two Cases Synchronous Atypical Parathyroid Adenomas and Papillary Thyroid Carcinoma

Introduction: A literature review revealed a prevalence of approximately 3% of nonmedullary thyroid cancer, which was found in patients operated on for primary hyperparathyroidism (pHPT). Papillary thyroid carcinomas(PTC) is a malignant epithelial tumour. PTC represent up to 87% of all thyroid carcinomas. Atypical parathyroid adenoma(APA) are a subset of parathyroid neoplasms that exhibit some of the features of parathyroid carcinoma but lack unequivocal invasive growth. APA represents about 0,5-4% of cases of pHPT. As a group, they may be considered tumors of uncertain malignant potential.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author:

Authors: Voronkova I, Mokrysheva N, Lapshina A, Gurevich L, Britvin T,

Keywords: papillary thyroid carcinomas, atypical parathyroid adenoma, primary hyperparathyroidism,

#492 Should Primary Hyperparathyroidism at Age Below 40 Years Always Lead to Search for MEN-1, Despite Presence of Other Plausible Explanations?

Introduction: A 30-year-old female patient with inherited osteogenesis imperfecta (OI) Type 1 was referred due to hypercalcaemia and suspicion of primary hyperparathyroidism (pHPT). She had serum ca2+ 1.56 mmol/L, serum parathyroid hormone 115 ng/ml (< 70), and pHPT was diagnosed, but no scan uptake. By exploratory neck surgery, all parathyroid glands were hyperplastic and 3 ½ parathyroid + thymus were removed. The HPT was hypothesised to be due to abnormal calcium metabolism from OI (J Endocrinol Invest 1999), although not described previously.

Conference: 9th Annual ENETSConcerence (2012)

Presenting Author:

Authors: Feldt-Rasmussen U, Rasmussen �, Friis-Hansen L,

Keywords: MEN-1, screening, pHPT,