Home | About us | Editorial board | Search | Ahead of print | Current issue | Archives | Submit article | Instructions | Subscribe | Contacts | Advertise | Login 
 
Search Article 
  
Advanced search 
  Users Online: 693 Home Print this page Email this page Small font sizeDefault font sizeIncrease font size  
ORIGINAL ARTICLE
Year : 2020  |  Volume : 24  |  Issue : 2  |  Page : 196-201

Neonatal severe primary hyperparathyroidism: A series of four cases and their long-term management in India


1 Department of Endocrine Surgery, Rajiv Gandhi Govt. General Hospital, Madras Medical College, Porur, Chennai, India
2 Department of Endocrinology, Diabetes and Metabolism, Sri Ramachandra Medical Centre, Porur, Chennai, India
3 Diaplus Clinic, Salem, Anna Nagar, Chennai, India
4 Sundaram Medical Foundation, Anna Nagar, Chennai, India
5 Ramalingam Hospital, Itteri Road, Salem, Tamil Nadu, India
6 Department of Endocrinology, Diabetes and Metabolism, Narayana Hrudayala Hospitals, Hosur Road, Bengaluru, Karnataka, India

Correspondence Address:
Shriraam Mahadevan
Department of Endocrinology, Diabetes, and Metabolism, Sri Ramachandra Medical Centre, Porur, Chennai - 600 116, Tamil Nadu
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijem.IJEM_53_20

Rights and Permissions

Context: Neonatal severe primary hyperparathyroidism (NSPHPT) is an extremely rare autosomal recessive disorder, requiring a high index of suspicion. Infants affected with this disorder present with severe life-threatening hypercalcemia early in life, requiring adequate preoperative medical management followed by surgery. Aims: We report four newborns with NSPHPT who were managed over 10 years. Subjects and Methods: Demography, clinical presentation, treatment, and follow-up data were retrospectively studied with descriptive analysis to highlight the utility of long-term medical management, surgery, and genetic testing reported in the literature. Statistical Analysis Used: Descriptive Analysis. Results: We had three males and one female infant with a mean age of diagnosis at 28.7 days, calcium 29.2+/-2.8 mg/dL, and parathormone (PTH) 1963+/-270.4 pg/mL. All four infants presented with failure to thrive, hypotonia, and respiratory distress. All infants were treated medically followed by total parathyroidectomy plus transcervical thymectomy, with an additional hemithyroidectomy in one of them. Imaging was negative in all four cases. Three babies became hypocalcemic while the fourth infant had a drop in PTH and is on the tab. cinacalcet 30 mg/day. CaSR mutation was positive in three infants. Conclusions: Diagnosing NSPHPT needs expert clinical acumen. It requires emergency medical management to control calcium levels. The crisis may present later, necessitating parathyroidectomy in these cases once the child is fit for surgery. Surgery offers a cure for this unusual lethal hypercalcemia while the role of cinacalcet needs a special mention. Sound knowledge in endocrinology with parathyroid embryology and morphology is of paramount importance. Our case series might add a few insights into managing this unusual genetic disorder.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed152    
    Printed0    
    Emailed0    
    PDF Downloaded43    
    Comments [Add]    

Recommend this journal