Surgical management of neonatal severe hyperparathyroidism.

Background: Neonatal severe hyperparathyroidism (NSHPT) is a rare disease that can be lethal. Most patients require parathyroidectomy.

Objective: Report experience in managing this severe disease.

Design: Retrospective chart review of case series.

Setting: Tertiary health care center.

Patients and methods: We reviewed data on patients managed for NSHPT from June 2001 to January 2023. Demographic, clinical, and follow-up data were collected, and descriptive data were generated.

Main outcome measures: Pre- and postoperative levels of parathyroid hormone (PTH) and serum calcium, and effect of autotransplantation.

Sample size: 19.

Results: The 13 males and 6 females had a a mean age of 46 days at referral. The mean preoperative parathyroid hormone (PTH) and serum calcium levels were 996 ng/L and 4.54 mmol/L, respectively. Twelve patients underwent ultrasonography preoperatively. Of these, six had prominent glands, while no glands were seen in the other six. A Sestamibi scan was done for 15 patients, of which nine showed negative results and six showed positive results, with three glands observed in the neck and three in the sublingual area. Nineteen patients underwent renal ultrasonography, with nine showing nephrocalcinosis. The mean age at surgery was 5.2 months. Total parathyroidectomy (four glands) was performed in 17 patients, and 15 underwent concurrent auto-transplantation. One patient had three glands removed, in addition to auto-transplantation. Another underwent single gland excision as a redo-surgery after previous surgery elsewhere. The mean postoperative follow-up duration was 6 years. The mean postoperative PTH and calcium levels were 25 ng/L and 1.64 mmol/L, respectively. Ultimately, all the patients were required to initiate calcium and vitamin D supplements, except for two patients who had undergone auto-transplantation. Molecular genetic screening of the calcium-sensing receptor gene reported likely pathogenic/pathogenic mutations in 16 of 19 patients (13 were homozygous, two were heterozygous, one was negative, and data was unavailable for the remaining three patients).

Conclusions: Surgical treatment of NSHPT is effective. Preoperative radiological localization studies did not impact the treatment plan. Auto-transplantation proved ineffective in maintaining independence from medical supplements.

Limitations: The retrospective nature of the study may imply inaccuracybut since the data are gathered from electronic medical records, we believe it is highly accurate. The small sample size limits generalizability.