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Neonatal Severe Primary Hyperparathyroidism—Presentation, Management, and Follow-up of Seven Cases

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Abstract

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. We report seven newborns with neonatal severe primary hyperparathyroidism (NSPHPT) who were managed over 12 twelve years. 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. The statistical analysis used was descriptive analysis. We had six baby boys and one baby girl infant with a mean age of diagnosis at 50.42 days, calcium 23.32 ± 6.9 mg/dl, and parathormone (PTH) 1072 ± 1440 pg/ml. All seven 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 seven cases. Six babies became hypocalcemic while the fourth infant had a drop in PTH and is on tab. cinacalcet 30 mg/day. CASR mutation was positive in six infants. Our article on NSPHPT reiterates the importance of early diagnosis and referral for definitive management. Follow-up of these cases highlights the importance of complete surgery at presentation and lifelong compliance for calcium and vitamin D supplementation. The role of preoperative medical management also is of utmost importance, to make the surgery successful. Parental counseling for neonatal surgery poses a real challenge. Surgery offers a cure for this unusual lethal hypercalcemia, presenting with crisis. We want to reemphasize the need for early intervention in the form of definitive surgery—total parathyroidectomy and thymectomy with no autotransplantation. Thymectomy ensures the removal of all parathyroids though our series had no evidence of ectopia in the thymus.

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Acknowledgements

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Authors and Affiliations

  1. Department of Endocrine Surgery, Rajiv Gandhi Govt. General Hospital, Madras Medical College, Chennai, India

    Dhalapathy Sadacharan

  2. Department of Endocrinology, Diabetes & Metabolism, Sri Ramachandra Institute of Higher Education and Research, Sri Ramachandra Medical Centre, Porur, Chennai, 600116, India

    Shriraam Mahadevan & Dhivyalakshmi Jeevarathnam

  3. Endocrine & Breast Surgery, Department of Oncology, K S Hegde Medical Academy, Mangalore, India

    Smitha S. Rao

  4. Department of Paediatrics, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, India

    Umamaheshwari Rajakumar

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  1. Dhalapathy Sadacharan
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  2. Shriraam Mahadevan
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  3. Smitha S. Rao
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  4. Dhivyalakshmi Jeevarathnam
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  5. Umamaheshwari Rajakumar
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Contributions

All authors contributed to the study’s conception and design. Material preparation, data collection, and analysis were performed by Dhalapathy Sadacharan and Smitha S. Rao. The first draft of the manuscript was written by Smitha S. Rao, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript. Shriraam Mahadevan contributed significantly to editing the manuscript.

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Correspondence to Shriraam Mahadevan.

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Key Messages

A unique series of seven cases of lethal neonatal hypercalcemia diagnosed with NSPHPT was reported with the intention of highlighting the importance of diagnosis, long-term medical management followed by definitive surgery.

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Sadacharan, D., Mahadevan, S., Rao, S.S. et al. Neonatal Severe Primary Hyperparathyroidism—Presentation, Management, and Follow-up of Seven Cases. Indian J Surg (2024). https://doi.org/10.1007/s12262-024-04019-8

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