Abstract #832: Primary Hyperparathyroidism Presenting as Haemorrhagic Stroke in a Young Female

2016 ◽  
Vol 22 ◽  
pp. 178
Author(s):  
Sachin Jain ◽  
Anshuman Srivastava ◽  
Ramesh Aggarwal ◽  
Mahendra Rajput ◽  
Nishchint Jain
Keyword(s):  
Primary Hyperparathyroidism ◽  
Haemorrhagic Stroke ◽  
Young Female

scholarly journals A complex case of brown tumors as initial manifestation of primary hyperparathyroidism in a young female

2019 ◽  
Vol 23 (3) ◽  
pp. 477
Author(s):  
BhariSharanesha Manjunatha ◽  
Sharad Purohit ◽  
Ashutosh Harsh ◽  
Nagamahita Vangala
Keyword(s):  
Primary Hyperparathyroidism ◽  
Young Female ◽  
Complex Case ◽  
Initial Manifestation ◽  
Brown Tumors

CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases

2016 ◽  
Vol 88 (10) ◽  
pp. 57-62 ◽  
Author(s):  
E O Mamedova ◽  
N G Mokrysheva ◽  
E A Pigarova ◽  
E G Przhiyalkovskaya ◽  
I A Voronkova ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Carcinoma ◽  
Molecular Genetic ◽  
Young Patients ◽  
Suppressor Gene ◽  
Young Female ◽  
Personal Genome ◽  
Nonsense Mutations ◽  
Thermo Fisher Scientific ◽  
Clinical Cases

The article describes two clinical cases of severe primary hyperparathyroidism (PHPT) caused by parathyroid carcinoma in young female patients who underwent molecular genetic testing to rule out the hereditary forms of PHPT. In both patients, heterozygous germline nonsense mutations of tumor suppressor gene CDC73 encoding parafibromin (p.R91X and p.Q166X) were identified using next-generation sequencing with Ion Torrent Personal Genome Machine (Thermo Fisher Scientific — Life Technologies, USA). It is the first description of CDC73 mutations in Russia, one of the mutations is described for the first time in the world. Identification of germline mutations in the CDC73 gene in patients with PHPT necessitates regular lifelong screening for other manifestations of hyperparathyroidism-jaw tumor syndrome (HPT-JT), PHPT recurrence due to parathyroid carcinoma as well, and identification of mutation carriers among first-degree relatives.

Primary Hyperparathyroidism

2005 ◽  
Vol 38 (23) ◽  
pp. 19
Author(s):  
WILLIAM E. GOLDEN ◽  
ROBERT H. HOPKINS
Keyword(s):  
Primary Hyperparathyroidism

Abstract #735: Functional Giant Parathyroid Cyst: Rare Cause of Primary Hyperparathyroidism

2015 ◽  
Vol 21 ◽  
pp. 142-143
Author(s):  
Sailesh Lodha ◽  
Deependra N Singh ◽  
Ankur Gahlot
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Cyst
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