ESPE Abstracts (2022) 95 P1-424

ESPE2022 Poster Category 1 Bone, Growth Plate and Mineral Metabolism (46 abstracts)

Therapeutic Approach to Primary Hyperparathyroidism: A Case-Report from One Pediatric Endocrinology Center

Valeria Di Natale , Valentina Assirelli , Stefano Zucchini & Alessandra Cassio


Department Hospital of Woman and Child, Pediatric Unit, Center for Rare Endocrine Conditions (ENDO-ERN), IRCCS Sant'Orsola Malpighi University Hospital, Bologna, Italy

Primary hyperparathyroidism is a condition characterized by one or more hyperfunctioning parathyroids leading to hypercalcemia and inappropriately normal or elevated levels of parathyroid hormone (PTH). Clinically it can occur asymptomatically or manifests with osteopenia, increased risk of pathological fractures, nephrolithiasis, gastrointestinal symptoms (vomiting, constipation, abdominal pain) or asthenia. We report the case of A.L.M, a 15-year-old female who went to the Emergency Department of our Hospital for abdominal pain and nausea, also complaining appearance of asthenia since few weeks. The biochemical screening showed as only noteworthy alteration a hypercalcemia (Ca tot. 12.6 mg/dl) confirmed in a second sample (Ca 12.8 mg/dl) 7 days apart and associated with high levels of PTH (207 pg/ml) with normal phosphoremia and 25OH vitamin D. She was sent to our attention and subjected to further investigations that led to an ultrasound finding of hyper vascularized hypoechoic nodular formation at the lower margin of the left thyroid lobe. Tecnetium-99 Parathyroid Scintigraphy confirmed an "area of hyperaccumulation compatible with parathyroid adenoma". It was also documented by lumbar and total-body DEXA a bone mineral density below the expected range for age (z-score -1.3) and a normal abdominal ultrasound. Although there was no familiarity for endocrinological diseases, molecular analysis of RET gene was performed, resulted negative. Treatment consisted of parenteral fluid therapy, subsequently shifted enterally, in combination with diuretic treatment with Furosemide. For the scarce calcemic control (13.6 mg/dl) and the resumption of gastrointestinal symptoms, associated with the appearance of bone pain, therapeutic attempt with Cinacalcet was performed. It brings simultaneous reduction in calcium serum levels (11.5 mg/dl), that made possible to discontinue diuretic treatment. The girl was then subjected to surgery for remove the adenoma and to improve its accuracy, intraoperative dosage of PTH (from 456 to 74 pg/ml) was performed. The subject undertook post-surgical supplementation with Calcium and 1,25OH vitamin D, progressively reduced until suspension in about 2 months. Although very rare in pediatric age, primary hyperparathyroidism from parathyroid adenoma is a diagnosis to consider in patients with PTH-dependent hypercalcemia. Unfortunately, medical treatment not always can control symptoms, so that in our patient it was necessary to use off-label Cinacalcet, a calcimimetic drug used in pediatric patients with secondary hyperparathyroidism from chronic kidney failure. Our experience demonstrates the effectiveness of this drug even in the treatment of a primary hyperparathyroidism in pediatric age in the absence of significant side effects.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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