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

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 befor...

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Autores principales: de Silva, Nipun Lakshitha, Jayalath, Mihiran Denagama, Sampath, W. K. Chaminda, Perera, Ranga, Karunathilake, Chandana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064545/
https://www.ncbi.nlm.nih.gov/pubmed/37004024
http://dx.doi.org/10.1186/s12902-023-01328-z
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author de Silva, Nipun Lakshitha
Jayalath, Mihiran Denagama
Sampath, W. K. Chaminda
Perera, Ranga
Karunathilake, Chandana
author_facet de Silva, Nipun Lakshitha
Jayalath, Mihiran Denagama
Sampath, W. K. Chaminda
Perera, Ranga
Karunathilake, Chandana
author_sort de Silva, Nipun Lakshitha
collection PubMed
description 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.
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spelling pubmed-100645452023-04-01 Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report de Silva, Nipun Lakshitha Jayalath, Mihiran Denagama Sampath, W. K. Chaminda Perera, Ranga Karunathilake, Chandana BMC Endocr Disord Case Report 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. BioMed Central 2023-03-31 /pmc/articles/PMC10064545/ /pubmed/37004024 http://dx.doi.org/10.1186/s12902-023-01328-z Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
de Silva, Nipun Lakshitha
Jayalath, Mihiran Denagama
Sampath, W. K. Chaminda
Perera, Ranga
Karunathilake, Chandana
Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report
title Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report
title_full Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report
title_fullStr Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report
title_full_unstemmed Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report
title_short Primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report
title_sort primary hyperparathyroidism in an adolescent presenting with genu valgus progressing to extensive bone disease; a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064545/
https://www.ncbi.nlm.nih.gov/pubmed/37004024
http://dx.doi.org/10.1186/s12902-023-01328-z
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