Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.
Primary hyperparathyroidism is a heterogeneous clinical entity. In the clinical setting, the diagnosis and management of familial isolated hyperparathyroidism (FIHP) and other familial hyperparathyroidism (FHPT) forms continue to rely on clinical, laboratory, and histological findings, with careful examination of the family. In this article, we report a case series of FIHP in a four-generation Greek family, with no identifiable gene mutations. Clinical approach and long-term follow-up are discussed and a narrative review of the genetic basis of this entity has been performed.
Department of Endocrinology, Diabetes and Metabolism, Panagia General Hospital, Venizelou 34b, Pilea, PO Box: 55535, Thessaloniki, Greece.
Nikolaos
N
Pontikides
Spyridon
S
Karras
Athina
A
Kaprara
Panagiotis
P
Anagnostis
Gesthimani
G
Mintziori
Dimitrios G
DG
Goulis
Eleni
E
Memi
Gerasimos
G
Krassas
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D006961:Hyperparathyroidism / Q000453:epidemiology / Q000235:genetics*; D049950:Hyperparathyroidism, Primary / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000453:epidemiology / Q000235:genetics; D018813:Multiple Endocrine Neoplasia Type 2a / Q000453:epidemiology / Q000235:genetics; D010375:Pedigree; D044465:White People; D055815:Young Adult