Primary hyperparathyroidism in children and adolescents: Clinical features and treatment outcomes from an Italian multicenter study

Filomena Cetani; Valentina Simone Della; Alfredo Scillitani; Lago Anna Dal; Laura Pierotti; Chiara Sardella; Bruno Madeo; Elisa Cairoli; Vainicher Cristina Eller; Massimo Procopio; Marco Barale; Serena Palmieri; Laura Gianotti; Elena Castellano; Andrea Lania; Marco Pitea; Roberto Lanzi; Riccardo Maggiore; Cristiana Cipriani; Jessica Pepe; Sabrina Corbetta

doi:10.1530/endoabs.99.RC2.4

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Endocrine Abstracts (2024) 99 RC2.4 | DOI: 10.1530/endoabs.99.RC2.4

ECE2024 Rapid Communications Rapid Communications 2: Calcium and Bone | Part I (6 abstracts)

Primary hyperparathyroidism in children and adolescents: Clinical features and treatment outcomes from an Italian multicenter study

Filomena Cetani ¹ , Simone Della Valentina ² , Alfredo Scillitani ³ , Anna Dal Lago ² , Laura Pierotti ² , Chiara Sardella ¹ , Bruno Madeo ⁴ , Elisa Cairoli ⁵ , Cristina Eller Vainicher ⁶ , Massimo Procopio ⁷ , Marco Barale ⁸ , Serena Palmieri ^9,10 , Laura Gianotti ¹¹ , Elena Castellano ¹² , Andrea Lania ¹³ , Marco Pitea ¹⁴ , Roberto Lanzi ¹⁵ , Riccardo Maggiore ¹⁶ , Cristiana Cipriani ¹⁷ , Jessica Pepe ¹⁸ & Sabrina Corbetta ^19,20

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¹Unit of Endocrinology, University Hospital of Pisa, Pisa, Italy; ²University of Pisa, Department of Clinical and Experimental Medicine, Pisa, Italy; ³Unit of Endocrinology, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; ⁴Unit of Endocrinology, Department of Medical Specialist, Azienda Ospedaliera-Universitario of Modena, Ospedale Civile of Baggiovara, Modena, Italy; ⁵Bone Metabolism Disorders and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy; ⁶SC Endocrinologia, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy; ⁷Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy; ⁸Oncological Endocrinology, Department of Oncology, University of Turin, Turin, Italy; ⁹Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy, ¹⁰Endocrinology Unit, Fondazione IRCCS Ca’ Granda Ospedale Policlinico Maggiore, Milan, Italy, ¹¹Struttura Complessa di Endocrinologia e Diabetologia Territoriale, ASL Cuneo 1, Cuneo, Italy, ¹²Endocrinology, Diabetology and Metabolism, Santi Croce & Carle Hospital, Cuneo, Italy, ¹³Humanitas University and Endocrinology Unit, IRCCS Humanitas Research Hospital, Rozzano, Italy, ¹⁴Department of Pediatrics, San Raffaele Hospital, University of Milan, Milan, Italy, ¹⁵Internal Medicine Day Case, San Raffaele Hospital, Milan, Italy, ¹⁶Endocrine Surgery Unit, IRCCS San Raffaele Scientific Istitute, Milan, Italy, ¹⁷Department of Clinical, Internal, Anaesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Rome, Italy, ¹⁸Department of Clinical, Internal, Anaesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Rome, Italy, ¹⁹Bone Metabolism Disorders and Diabetes Unit, IRCCS Istituto Auxologico Italiano, Milan, Italy, ²⁰Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy

Primary hyperparathyroidism (PHPT) is rare in the pediatric population, with an estimated incidence of 0.5–5 cases per 100,000 person-years in children. Data regarding the clinical phenotype, the surgical outcomes are scarce. The objective of our study was to retrospectively analyze the phenotype of apparently sporadic PHPT in patients ≤21 years in major endocrinology reference centers in Italy. None of the patients had known familial syndromes. A total of 41 patients were included, 14 males and 27 females with a median age at diagnosis of 18 years (IR 16-20). Twenty-nine percent of diagnoses (n=12) were made incidentally through laboratory evaluation performed for other reasons while 71% (n=29) had PHPT-related symptoms. The most common symptom was nephrolithiasis in 58.6% of the symptomatic cohort (n=17), followed by bone pain (11.1%) and acute pancreatitis (6.9%). Median total serum calcium concentration was 11.7 mg/dl (IR 11.1-12.5), ionized calcium was 1.58 mmol/l (IR 1.43-1.71) and PTH levels, evaluated as fold increase of the upper limit of reference range, were 2.96. Fifty-nine percent (19/32 with available 24-hour urinary calcium) had hypercalciuria with a median value of 342 mg (IR 258-498). Fifty-three percent (15/28 with available dual-energy x-ray absorptiometry) had low bone mineral density (mean lumbar Z-score -2.8; femoral neck -2.6; total femur -2.9; 1/3 distal radius -3.7 DS). Genetic analysis of genes that have been associated with the development of genetic PHPT was performed in 34 patients. Eleven patients (33.3%) carried a heterozygous germline variant: 7 in CDC73 gene, 1 in MEN1 gene, 1 in AP2S1 gene, 1 in GCM2 gene, 1 in CASR of uncertain significance. The latter two variants were classified of uncertain significance. Thirty-one (75%) patients underwent surgery, 15 of them had bilateral cervical exploration. Histology was consistent with the diagnosis of chief cell adenoma in 27 (87%) patients, atypical adenoma in 2 (6.5%) and carcinoma in 2 (6.5%). The post-surgical follow-up (median 5 years) was available in 23 patients. The cure rate following primary surgery was 95.7%. Persistence of PHPT was evident in one patient. No recurrence was evident. Our findings smggest that PHPT in children and adolescence is frequently sporadic, although a substantial proportion of patients (approximately one-third) have a genetic predisposition. Therefore, an appropriate familial screen should be performed clinically and if relevant, tested genetically. Most cases are seemingly due to isolated adenomas.