Primary Hyperparathyroidism in Neonates and Childhood

Abstract

Objectives: Primary hyperparathyroidism (HP1) in childhood is thought to be extremely rare. Its exact incidence remains unknown, as do the characteristics of HP1. A retrospective study collection was conducted on cases supplied by members of the Working Group on Calcium Metabolism throughout France over a 20-year period (1984–2004), since the availability of the intact parathormone (iPTH) radioimmunoassay. Results: 55 cases were collected of which 11 were neonates. Among the 44 children and adolescents, there were 18 male and 26 female patients, ranging in age from 6 to 18 (mean 13) years. 83% were symptomatic and 43% had nephrolithiasis. Symptoms were associated with high serum calcium and inappropriate iPTH levels. Ultrasonography and technetium-labelled methoxyisobutylisonitrile scintigraphy are useful tools for the preoperative localization of adenomas, particularly in adolescents. Intraoperative iPTH assays are effective in minimizing invasive parathyroidectomy. All patients, except neonates, underwent surgery: 29 adenomas and 11 hyperplasias were found. Two multiple endocrine neoplasias (MENs) were subsequently discovered. Since the calcium-sensing receptor (CaSR) mutation was reported, the form of management in neonates has become more medical (intravenous diphosphonates) than surgical. On follow-up no recurrence was observed except for MEN. Conclusion: These national results reflect HP1 epidemiology. HP1 is a rare entity and appears to be a severe disease in terms of symptoms with regard to management. The use of molecular biology tests could be useful not only in neonatal cases (CaSR mutation) but also prior to surgery in children (MEN mutation).

Bone Development and Mineral Homeostasis in the Fetus and Neonate: Roles of the Calciotropic and Phosphotropic Hormones

“…Neonatal or infantile primary hyperparathyroidism has been described in older literature (57,405,562), but these cases likely represented neonatal severe primary hyperparathyroidism mediated by homozygous or compound heterozygous inactivating mutations of CaSR (see sect. VIID).…”

“…Parathyroids are grossly enlarged and serum PTH is quite high. This is an almost invariably fatal condition unless parathyroidectomy is urgently performed (57), although some very rare cases have been reported to spontaneously resolve into milder hypercalcemia that did not require surgery (57,405,562,719). Bisphosphonates and the calcimimetic drug Cinacalcet have been used to lower the serum calcium temporarily to enable the newborn to have surgery at an older age (719,737).…”

Hiperparatiroidismo primario: presentación de un caso y revisión de la literatura

“…Se clasifi ca en primario, cuando existe excesiva secreción de PTH debido a una hiperplasia, adenoma o carcinoma de PT; secundario a hipocalcemia o defi ciencia de Vitamina D y el llamado terciario, debido una función autónoma de las glándulas PT generalmente después de un hiperparatiroidismo secundario de larga evolución, como en la enfermedad renal crónica 5 . La incidencia de hiperparatiroidismo primario (HPT 1º) en población pediátrica aún es desconocida, algunas han reportado incidencia de alrededor de 1 por cada 200 000 a 300 000 niños 6 . Otros autores han descrito que 5% del total de HPT 1º se presentan en población pediátrica en igual proporción en hombres y mujeres 6 .…”

“…La incidencia de hiperparatiroidismo primario (HPT 1º) en población pediátrica aún es desconocida, algunas han reportado incidencia de alrededor de 1 por cada 200 000 a 300 000 niños 6 . Otros autores han descrito que 5% del total de HPT 1º se presentan en población pediátrica en igual proporción en hombres y mujeres 6 . En la población adulta el HPT es el tercer desorden endocrino más frecuente, con incidencia en los últimos 20 años entre 20-30 por 100 000 personas al año 8,9 .…”

“…En las distintas cohortes pediátricas se ha descrito mayor frecuencia de compromiso de las 4 glándulas que adenomas únicos. 6,7 La etiopatiogenia de esta enfermedad es bien conocida. Se han descrito mutaciones del CaSRs, este receptor es codifi cado por un gen ubicado en el cromosoma 11, se ubica en la superfi cie de las células PT y su función es preservar la homeostasis del calcio censando los valores de éste en el plasma y regulando la secreción de PTH.…”