Dental anomalies and orthodontic characteristics in patients with pseudohypoparathyroidism

Abstract

BackgroundPseudohypoparathyroidism (PHP) is a rare and inherited disease caused by mutations in the GNAS-gene or upstream of the GNAS complex locus. It is characterized by end-organ resistance to PTH, resulting in hypocalcemia and hyperphosphatemia. We aimed to investigate the dental anomalies according to tooth types and the orthodontic characteristics of patients with PHP.MethodsUsing a cross-sectional design, 29 patients (23 females) with PHP, living in Denmark, were included, and their clinical intraoral photos and radiographs were examined.ResultsPulp calcification was found in 76% of the patients. Blunting of root apex was present in 55% and shortening of root in 48% of the examined patients. Blunting and shortening of roots were seen more often in premolars than in other tooth types (pboth < 0.01). Crowding of lower anterior teeth was frequently observed (36%) as well as diastema in the upper arch (25%), midline diastema (18%), and Class III malocclusion (11%).ConclusionIn the present study population, the teeth were frequently affected by pulp calcification and/or deviation of the root morphology. Blunting and shortening of root(s) were more often seen in premolars than in other tooth types. Class III malocclusion was relatively prevalent. It is important to pay attention to dental anomalies and occlusion in order to provide adequate care for patients with PHP.

A Cross‐Sectional Cohort Study of the Effects of FGF23 Deficiency and Hyperphosphatemia on Dental Structures in Hyperphosphatemic Familial Tumoral Calcinosis

“…Furthermore, it is likely that additional enzymes, or incompletely understood inorganic molecules, such as pyrophosphate, may play important roles in this complex pathophysiology. Interestingly, similar, but milder, dental radiographic findings (pulp calcification and short roots) have been reported in pseudohypoparathyroidism, (28) another rare inherited hyperphosphatemic disorder. However, the characteristic short, thistle-shaped roots seen in HFTC have not been reported in pseudohypoparathyroidism, suggesting that elevated phosphate alone is not sufficient to replicate the dental phenotype seen in tumoral calcinosis.…”

Presentation of a Case of Short Root Anomaly in an 11-Year-Old Child

“…Short roots of multiple teeth have also been reported in patients with Turner syndrome [26,27], Frazer syndrome [28], Stevens-Johnson syndrome [29][30][31][32][33], Hallerman-Streiff syndrome [34], and Schimcke immuno-osseous dysplasia [35]. Some metabolic disorders like hypophospatasia [36], pseudohypoparathyroidism [37,38], and vitamin D-dependent rickets, type I [39] have also been associated with short roots. Spiky-shaped short roots and alveolar bone abnormalities have been reported in patients with thalassemia major [40].…”

¿Se puede diagnosticar una enfermedad genética en base a caracteres fenotípicos? A propósito de un caso de pseudohipoparatiroidismo en Ecuador

“…PHP is a clinically dysmorphic syndrome characterized by skeletal and developmental defects 11 , including short height, rounded face, short fourth metacarpal bones as well as other bones in the hands and feet, obesity, dental hypoplasia, and soft tissue calcifications or ossifications 12,13 . However, some cases may present unusual phenotypic characteristics 12,13 . The biochemical characteristics of patients with PHP are hypocalcaemia, hyperphosphatemia and elevated levels of PTH 12 .…”