title: [TYPE 1 MULTIPLE ENDOCRINE NEOPLASIA SYNDROME AND FAMILIAL ISOLATED HYPERPARATHYROIDISM].
abstract: Type 1 multiple endocrine neoplasia syndrome (MEN-1) is a rare autosomal dominant disorder caused by mutation in the MEN-1 gene and manifest as a combination of tumours of parathyroid glands, endocrine pancreas, and adenohypophysis. Familial isolated hyperparathyroidism (FIHP) is another rare autosomal dominant disorder characterized by the development ofparathyroid tumours as the sole endocrinopathy within a single family. The notion of FIHP encompasses different hereditary forms of primary hyperparathyroidism, such as a variant of MEN-1 syndrome. This paper is a brief literature review of the problems related to primary hyperparathyroidism, MEN-1, and FIHP. Also, It describes a family presenting with genetically confirmed MEN-1 syndrome, manifest as primary hyperparathyroidism.
authors.forename: E O
authors.initials: EO
authors.lastname: Mamedova
authors.forename: E A
authors.initials: EA
authors.lastname: Pigarova
authors.forename: N G
authors.initials: NG
authors.lastname: Mokrysheva
authors.forename: S N
authors.initials: SN
authors.lastname: Kuznetsov
authors.forename: I V
authors.initials: IV
authors.lastname: Kim
authors.forename: N S
authors.initials: NS
authors.lastname: Kuznetsov
authors.forename: L Ya
authors.initials: LY
authors.lastname: Rozhinskaya
authors.forename: A N
authors.initials: AN
authors.lastname: Tyul'pakov
mesh_terms: D000328:Adult; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics / Q000473:pathology / Q000503:physiopathology