Endocrine Abstracts

Introduction: Juvenile primary hyperparathyroidism represents more severe form of the disease, often with organ damages. Genetic mutation and paarthyroid hyperplasia are more frequent than in adults.

Case report: 20–year–old patient with familial history of kidney stone. She was hospitalized for major hypercalcemia at 3.65 mmol/l (2.2–2.6 mmol/l) discovered on daily chronic vomiting and alteration of the general condition. The biological balance was in favour of primary hyperparathyroidism with hypophosphoremia at 0.58 mml/l (0.85–1.5 mmol/l) ; hypercalciuria at 7.8 mmol/24 h (2.5–7.5 mmol/24 h), PTH at 1050 ng/l (15–60 ng/ml), Vit D at 7ng/l ( 30–100 ng/ml).

The morphological assessment is as follows:

–parathyroid sesta MIBI scintigraphy and cervical ultrasound were compatible with a left P3 inferior adenoma measuring 33–14–13 mm

Treatment with mimpara was instaured without success. Thus, left lower parathyroidectomy for adenoma by cervicotomy was performed, without exploration of other sites

Anatomopathology concluded to parathyroid main cell adenomas, without signs of malignancy.

Genetic research (multiple endocrine neoplasia and Ca SR mutation were performed ( results unavailable). we completed with a statistical pituitary assessment (prolactin, FT4, TSH, GH, IGF1 ) plasma DM) and hormonal assessment ( glucagon, somatostatin, VIP) wich were normal.

Discussion: Calcemia is still normal 1 month after operation at 2.17 mmol/l . However the rapid reascension of PTH to 182 pg/ml is considered to be quite normal since it is a post–operative rebound effect linked to both the resumption of function of other parathyroids and probably increased by vitamin D deficiency despite adequate supplementation. But we may fear an hyperplasia of parathyroids and it is the genetic study and the evolution of calcemia and PTH that will predict the etiology of this hyperparathyroidism.

Conclusion: Genetic study in young patients with primary hyperthyroidism is essential given the higher risk of recurrence in familial forms. The level of calcimia may sometimes drive the time of surgery.