Primary Hyperparathyroidism in Young People. When Should We Perform Genetic Testing for MEN1?

Primary Hyperparathyroidism in Young People. When Should We Perform Genetic Testing for Multiple Endocrine Neoplasia 1 (MEN-1)?

T. Lassen, L. Friis-Hansen, et al.
The Journal of Clinical Endocrinology & Metabolism 2014 99:11, 3983-3987

Results and Discussion:

Whether to perform screening of patients with pHPT under the age of 30, 35, or 40 years is controversial. According to international guidelines from 2001, genetic testing is indicated only in patients with pHPT below the age of 30 years. However, in updated guidelines from 2012, it is suggested to perform genetic testing in patients with pHPT below the age of 30 years, but also at any age in patients presenting with multigland parathyroid disease.

Conclusions:

The reviewed literature and the presented case illustrate the importance of this change in international guidelines, but they also raise concern for a potential underdiagnosing of patients before year 2012.

Current Concepts in the Presentation, Diagnosis and Management of Primary Hyperparathyroidism

omicsonline.com/open-access/2-current-concepts-in-the-presentation-diagnosis-and-management-of-primary-hyperparathyroidism-1584-9341-10-4-2.pdf

Amal Alhefdhi
Department of Surgery, Section of Endocrine Surgery, University of Wisconsin, USA

Prolactin Receptor in Primary Hyperparathyroidism

PLOS ONE: Prolactin Receptor in Primary Hyperparathyroidism – Expression, Functionality and Clinical Correlations

Conclusions:

We demonstrate that the prolactin receptor is highly abundant in human parathyroid tissues and that PRLr isoforms expression and PRLr subcellular localisation are altered in parathyroid tumours. Responsiveness of PRLr to physiological levels of prolactin was observed in the form of increased PTH secretion and altered gene transcription with significant increase of RIG-I like receptor, JAK-STAT and Type II interferon signalling pathways. These data suggest a role of the prolactin receptor in parathyroid adenomas.

Post-surgical follow-up of primary hyperparathyroidism associated with MEN1

Post-surgical follow-up of primary hyperparathyroidism associated with multiple endocrine neoplasia type 1

-Flavia L. Coutinho, Delmar M. Lourenco, Jr.,I Rodrigo A. Toledo, Fabio L. M. Montenegro, and Sergio P. A. Toledo
Clinics (Sao Paulo). 2012 April; 67(Suppl 1): 169–172.
doi: 10.6061/clinics/2012(Sup01)28. PMCID: PMC3328812

• In patients with hyperparathyroidism and MEN1, parathyroidectomy in most cases "was able to restore normal calcium/parathyroid hormone levels and ultimately lead to discontinuation of calcium and calcitriol supplementation."
  

Diagnosis of MEN1 in a patient with back pain

Diagnosis Of Multiple Endocrine Neoplasia Type 1 In A Patient With Back Pain; Case Report And Review Of Literature
-G Cristina, L Cesar A, L Robert, M Vinuta. Diagnosis Of Multiple Endocrine Neoplasia Type 1 In A Patient With Back Pain; Case Report And Review Of Literature. The Internet Journal of Internal Medicine. 2008 Volume 8 Number 1.

• "Usually MEN1 patients are first diagnosed when they present with hypercalcemia. Our patient’s diagnosis was made only after he presented with back and flank pain, and imaging of his abdomen incidentally noted multiple abdominal tumors."
  

Selective parathyroidectomy: a conservative surgical option for MEN1–primary hyperparathyroidism

Minimally invasive parathyroidectomy provides a conservative surgical option for multiple endocrine neoplasia type 1–primary hyperparathyroidism -Mark Versnick, et al.
Surgery, Volume 154, Issue 1 , Pages 101-105, July 2013

• MIP (minimally invasive hyperparathyroidectomy) "provides an acceptable outcome for patients with MEN1."
  
• "It is accepted that recurrent disease is inevitable in these patients; however, such recurrence may take decades to occur and may be able to be dealt with by a further focused procedure."

MEN1 intragenic deletions appear common in sporadic primary hyperparathyroidism

MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism

-M Alvelos, et al.
European Journal of Endocrinology, October 23, 2012 EJE-12-0327

Prolactin Receptor in Primary Hyperparathyroidism – Expression, Functionality and Clinical Correlations

Prolactin Receptor in Primary Hyperparathyroidism – Expression, Functionality and Clinical Correlations
-Haglund F, et al. PLoS ONE May 2012, Volume 7, Issue 5, e36448.

• "...the prolactin receptor is highly abundant in human parathyroid tissues"
• "...PRLr isoforms expression and PRLr subcellular localisation are altered in parathyroid tumours."
• "Responsiveness of PRLr to physiological levels of prolactin was observed in the form of increased PTH secretion and altered gene transcription with significant increase of RIG-I like receptor, JAK-STAT and Type II interferon signalling pathways."
• "These data suggest a role of the prolactin receptor in parathyroid adenomas."