open access
Acromegaly and late-onset primary hyperparathyroidism in a female with a rare MEN1 gene variant of yet undetermined clinical significance (p.Val167Ala)
- Department of Endocrinology, Jagiellonian University Medical College, Cracow, Poland
- Department of Endocrinology, University Hospital in Cracow, Poland
open access
Abstract
Not required for Clinical Vignette.
Abstract
Not required for Clinical Vignette.
Keywords
acromegaly; MEN1; hyperparathyroidism; adrenal tumours; pituitary neuroendocrine tumour
Title
Acromegaly and late-onset primary hyperparathyroidism in a female with a rare MEN1 gene variant of yet undetermined clinical significance (p.Val167Ala)
Journal
Issue
Article type
Clinical vignette
Pages
579-580
Published online
2020-09-18
Page views
812
Article views/downloads
706
DOI
Pubmed
Bibliographic record
Endokrynol Pol 2020;71(6):579-580.
Keywords
acromegaly
MEN1
hyperparathyroidism
adrenal tumours
pituitary neuroendocrine tumour
Authors
Magdalena Godlewska
Anna Bogusławska
Andrzej Nowak
Anna Skalniak
Anna Sowa-Staszczak
Aleksandra Gilis-Januszewska
Alicja Hubalewska-Dydejczyk
- Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat. 2008; 29(1): 22–32.
- Thakker RV, Newey PJ, Walls GV, et al. Endocrine Society. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012; 97(9): 2990–3011.
- Nachtigall LB, Guarda FJ, Lines KE, et al. Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly. J Clin Endocrinol Metab. 2020; 105(6).
- Vergès B, Boureille F, Goudet P, et al. Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. J Clin Endocrinol Metab. 2002; 87(2): 457–465.
- Gatta-Cherifi B, Chabre O, Murat A, et al. Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d'etude des Tumeurs Endocrines database. Eur J Endocrinol. 2012; 166(2): 269–279.