Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report

Abstract

Background Primary hyperparathyroidism which is rare in adolescents presents commonly with non-specific symptoms and systemic complaints. Though there are few reported cases of genu valgus, genu valgus progressing to extensive bone disease despite mildly elevated calcium had not been reported before. Case presentation A 12-year-old male had been evaluated for bilateral (left > right) genu valgus and short stature. Serum calcium and phosphate levels had been normal. X-ray of the femora and pelvic bones had not shown additional abnormalities. Valgus deformity progressed despite left femoral plating, and a left distal femoral medial closed wedge osteotomy had been performed at 15 years. Plain imaging at that time had shown localised osteopaenia. At the age of 17 years, he developed multiple fragility fractures of his left hip rendering him wheelchair-bound. Further evaluation revealed a serum PTH level of 2571 (10–65) pg/mL with calcium of 2.82 (2.2–2.6) mmol/L and inorganic phosphate of 1.7 (2.2–4.7) mg/dL. The lumbar spine DXA scan showed a Z-score of -5.8. A left parathyroid adenoma was localised and there was evidence of hyperparathyroid bone disease including brown tumours. He underwent left parathyroidectomy and left thyroid lobectomy after which his PTH level dropped to 4.03 pg/mL. He developed hypocalcaemia which was managed successfully with calcium and alfacalcidol replacement. Conclusions Primary hyperparathyroidism can present with genu valgus in adolescents. Initial normocalcaemia which could be due to concomitant vitamin D deficiency could mask this leading to delayed diagnosis until severe irreversible bone disease ensues.

Pediatric Neuroendocrine Neoplasia of the Parathyroid Glands: Delving into Primary Hyperparathyroidism

“…A teenager suffering from bilateral genu valgum and associated short stature was referred for orthopedic correction at the age of 15 (with normal calcium values at that point); however, 2 years later, he suffered multiple fractures due to adenoma-associated PHP causing brown tumors. A good outcome was registered after parathyroidectomy [40]. In 2020, Lee et al [39] reviewed all the cases with genu valgum and PHP reported between 1945 and 2019 and found 23 cases.…”

“…Table 4. Case reports and series (<10 patients per article) of pediatric PHP (the list starts with the most recent publications) [9][10][11]15,29,[34][35][36][37][38][39][40]44,66,[68][69][70][71][72][73][74]77,78,[83][84][85]; the published cases with specific genetic testing were already introduced in Table 3 [17,53,61,62,64,65,67]. Abbreviations: C = case; CT = computed tomography; PT = parathyroid; PHP = primary hyperparathyroidism; SPECT/CT = single-photon emission computerized tomography/computed tomography; VATS = video-assisted thoracic surgery.…”

“…However, the decision of using bisphosphonates should be cautiously considered in cases with fractures, since parathyroid tumor removal will most likely improve the bone status in a matter of months [114][115][116]. On the other hand, very low Z-scores were reported in patients with multiple fractures and those with brown tumors; for instance, de Silva et al [40] reported on a 17-year-old male teenager with a Z-score of −5.8 who had a severe presentation, with multiple fractures that required the use of a wheelchair [40].…”

“…We exceptionally included four studies that applied a (maximum) cutoff age of 20-21 (rather than 18), but for which the average and median ages of the entire studied populations were below 18 [5,26,27,52]. Case reports included patients within an age range of 9 to 17 years [9][10][11]15,29,[34][35][36][37][38][39][40]44,66,[68][69][70][71][72][73][74]77,78,[83][84][85]. Overall, no clear female predominance was registered, as is seen in the adult population with PHP [51,52].…”

A Physiotherapeutic Approach to a Rare Case of Windswept Deformity in a Male Adolescent

“…Primary hyperparathyroidism (PHPT) is a prevalent endocrine disorder marked by elevated levels of calcium in the blood and elevated or inappropriately normal levels of parathyroid hormone in the serum [5,6]. It is an infrequent condition in growing populations [7,8]. PHPT may present with osteoporosis and increased urinary calcium excretion, and it can also manifest as vertebral fractures and changes in bone structures, both of which might occur without noticeable symptoms [5].…”