Heterozygous CDC73 mutation causing hyperparathyroidism in children and adolescents: a report of 2 cases
-
,
Abstract
Objectives
Primary hyperparathyroidism (PHPT), whilst common in elderly populations, is rare in adolescents. Hereditary cases make up less than 10% of patients with PH. We report two patients with CDC73 mutation presenting in early adolescence.
Case presentation
Case 1: A 14-year-old patient was referred from an adolescent mental health unit with hypercalcaemia. Imaging revealed a parathyroid adenoma. Genetic testing of the patient showed a heterozygous deletion of CDC73. Case 2: A 10-year-old patient was admitted to the general paediatric ward with symptoms suggestive of hypercalcaemia. The patient was known to carry an autosomal dominant mutation of CDC73. Imaging of the parathyroid gland showed bilateral adenoma.
Conclusions
We present two patients with CDC73 defects, who both presented with symptoms of hypercalcaemia. The cases highlight the difference in paediatric populations with PHPT who are often symptomatic at the time of diagnosis when compared to adult patients.
Acknowledgments
The authors would like to thank Dr. Laurence Abernethy, Consultant Radiologist, Alder Hey Children’s Hospital for his help with the images.
-
Research funding: None declared.
-
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
-
Competing interests: Authors state no conflict of interest.
-
Informed consent: Informed consent was obtained from all individuals included in this study.
-
Ethical approval: Not applicable.
References
1. Fraser, WD. Hyperparathyroidism. Lancet. 2009;374:145–58. https://doi.org/10.1016/s0140-6736(09)60507-9.Search in Google Scholar
2. Kollars, J, Zarroug, AE, van Heerden, J, Lteif, A, Stavlo, P, Suarez, L, et al.. Primary hyperparathyroidism in pediatric patients. Pediatrics 2005;115:974–80. https://doi.org/10.1542/peds.2004-0804.Search in Google Scholar PubMed
3. Hyde, SMRT, Waguespack, SG, Perrier, ND, Hu, MI. CDC73-Related disorders: Seattle, WA. University of Washington Seattle; 2008:1993–2022 pp. Available from: https://www.ncbi.nlm.nih.gov/books/NBK3789/ [Accessed 26 Apr 2018].Search in Google Scholar
4. Newey, PJ, Bowl, MR, Cranston, T, Thakker, RV. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat 2010;31:295–307. https://doi.org/10.1002/humu.21188.Search in Google Scholar PubMed
5. Sharretts, JM, Simonds, WF. Clinical and molecular genetics of parathyroid neoplasms. Best Pract Res Clin Endocrinol Metab 2010;24:491–502. https://doi.org/10.1016/j.beem.2010.01.003.Search in Google Scholar PubMed PubMed Central
6. van der Tuin, K, Tops, CMJ, Adank, MA, Cobben, JM, Hamdy, NAT, Jongmans, MC, et al.. CDC73-Related disorders: clinical manifestations and case detection in primary hyperparathyroidism. J Clin Endocrinol Metab 2017;102:4534–40. https://doi.org/10.1210/jc.2017-01249.Search in Google Scholar PubMed
7. Belcher, R, Metrailer, AM, Bodenner, DL, Stack, BCJr. Characterization of hyperparathyroidism in youth and adolescents: a literature review. Int J Pediatr Otorhinolaryngol 2013;77:318–22. https://doi.org/10.1016/j.ijporl.2012.12.008.Search in Google Scholar PubMed
8. Pichardo-Lowden, AR, Manni, A, Saunders, BD, Baker, MJ. Familial hyperparathyroidism due to a germline mutation of the CDC73 gene: implications for management and age-appropriate testing of relatives at risk. Endocr Pract 2011;17:602–9. https://doi.org/10.4158/ep10337.ra.Search in Google Scholar PubMed
9. Li, Y, Simonds, WF. Endocrine neoplasms in familial syndromes of hyperparathyroidism. Endocr Relat Cancer 2016;23:R229–47. https://doi.org/10.1530/erc-16-0059.Search in Google Scholar PubMed PubMed Central
10. Roizen, J, Levine, MA. A meta-analysis comparing the biochemistry of primary hyperparathyroidism in youths to the biochemistry of primary hyperparathyroidism in adults. J Clin Endocrinol Metab 2014;99:4555–64. https://doi.org/10.1210/jc.2014-2268.Search in Google Scholar PubMed PubMed Central
© 2022 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review Article
- The efficacy and safety of dipeptidyl peptidase-4 inhibitors and glucagon-like peptide-1 agonists in pediatric patients with type 2 diabetes: a systematic review
- Original Articles
- Triple burden of malnutrition and role of anaemia in the development of complications associated with type 1 diabetes in Indian children and youth
- Effect of obesity and excessive body fat on glycaemic control in paediatric type 1 diabetes
- Role of pan immune inflammatory value in the evaluation of hepatosteatosis in children and adolescents with obesity
- Secular trends of birth weight and its associations with obesity and hypertension among Southern Chinese children and adolescents
- Insights into the implication of obesity in hypogonadism among adolescent boys
- The association between plasma carnitines and duration of diabetic ketoacidosis treatment in children with type 1 diabetes
- Cathelicidin as a marker for subclinical cardiac changes and microvascular complications in children and adolescents with type 1 diabetes
- Developing a risk assessment tool for identifying individuals at high risk for developing insulin resistance in European adolescents: the HELENA-IR score
- Hemoglobin A1C can differentiate subjects with GCK mutations among patients suspected to have MODY
- Perceptions and use of complementary and alternative medicine in patients with precocious puberty
- Case Reports
- Infection with SARS-CoV-2 may alter the half-life of desmopressin (DDAVP) in patients with central diabetes insipidus
- Heterozygous CDC73 mutation causing hyperparathyroidism in children and adolescents: a report of 2 cases
- Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism – A case report
- Continuous glucose monitoring in an infant with panhypopituitarism having hypoglycemia on growth hormone therapy
- Severe consumptive hypothyroidism in hepatic hemangioendothelioma
- Efficacy of aromatase inhibitor therapy in a case with large cell calcifying Sertoli cell tumour-associated prepubertal gynaecomastia
Articles in the same Issue
- Frontmatter
- Review Article
- The efficacy and safety of dipeptidyl peptidase-4 inhibitors and glucagon-like peptide-1 agonists in pediatric patients with type 2 diabetes: a systematic review
- Original Articles
- Triple burden of malnutrition and role of anaemia in the development of complications associated with type 1 diabetes in Indian children and youth
- Effect of obesity and excessive body fat on glycaemic control in paediatric type 1 diabetes
- Role of pan immune inflammatory value in the evaluation of hepatosteatosis in children and adolescents with obesity
- Secular trends of birth weight and its associations with obesity and hypertension among Southern Chinese children and adolescents
- Insights into the implication of obesity in hypogonadism among adolescent boys
- The association between plasma carnitines and duration of diabetic ketoacidosis treatment in children with type 1 diabetes
- Cathelicidin as a marker for subclinical cardiac changes and microvascular complications in children and adolescents with type 1 diabetes
- Developing a risk assessment tool for identifying individuals at high risk for developing insulin resistance in European adolescents: the HELENA-IR score
- Hemoglobin A1C can differentiate subjects with GCK mutations among patients suspected to have MODY
- Perceptions and use of complementary and alternative medicine in patients with precocious puberty
- Case Reports
- Infection with SARS-CoV-2 may alter the half-life of desmopressin (DDAVP) in patients with central diabetes insipidus
- Heterozygous CDC73 mutation causing hyperparathyroidism in children and adolescents: a report of 2 cases
- Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism – A case report
- Continuous glucose monitoring in an infant with panhypopituitarism having hypoglycemia on growth hormone therapy
- Severe consumptive hypothyroidism in hepatic hemangioendothelioma
- Efficacy of aromatase inhibitor therapy in a case with large cell calcifying Sertoli cell tumour-associated prepubertal gynaecomastia
