Diagnosis of Albright Hereditary Osteodystrophy (AHO) in a 20 Years Female: A Case Report
DOI:
https://doi.org/10.52206/jsmc.2025.15.1.1031Abstract
Albright hereditary osteodystrophy (AHO) is a rare metabolic, autosomal dominant syndrome that may or may not be associated with parathormone deficiency (pseudohypoparathyroidism). It is a rare genetic autosomal dominant maternally transmitted disorder in which there is resistance in the target organ to parathyroid hormone. The syndrome manifests as hypoparathyroidism, causing patients to experience hypocalcemia and hyperphosphatemia. But contrary to low PTH levels, raised levels of PTH are present in serum. Characteristic presentations in a patient are short stature, round face, shortened fourth/fifth digits, mental retardation, developmental delay, subcutaneous calcification, and loss of smell and hearing.
We report a case of Albright hereditary osteodystrophy (AHO) in a 20-year-old female who presented to us in OPD of a tertiary care hospital.
Keywords: Albright Hereditary Osteodystrophy(AHO), Pseudohypoparathyroidism.
References
Arslan M, Nawaz MS, Hassan AU, Asghar F, Haseeb M, Asghar A, et al. Incidence and Determinants of Bullying in Private Dental Colleges of Lahore. Pakistan Journal of Science 2020. https://doi.org/10.57041/pjs.v72i4.263
Abate LE, Greenberg L. Incivility in medical education: a scoping review. BMC Med Educ 2023 Dec 1;23(1). https://doi.org/10.1186/s12909-022-03988-2
Dudas RA, Ryan MS, Bannister SL. A pediatrician, a resident, and a medical student walk into a clinic: The role of humor in clinical teaching. Pediatrics 2021 Nov 1;148(5). https://doi.org/10.1542/peds.2021-053044
Bynum WE, Varpio L, Lagoo J, Teunissen PW. 'I'm unworthy of being in this space': The origins of shame in medical students. Med Educ 2021 Feb 1;55(2):185-97. https://doi.org/10.1111/medu.14354
Neves da Silva HV, Heery LM, Cohen WR, Mahalingam VS, Adebiyi OA, Lee RS, et al. What Happened and Why: Responding to Racism, Discrimination, and Microaggressions in the Clinical Learning Environment. MedEdPORTAL 2022;18: 11280. https://doi.org/10.15766/mep_2374-8265.11280
Dueñas AN, Kirkness K, Finn GM. Uncovering Hidden Curricula: Use of Dark Humor in Anatomy Labs and its Implications for Basic Sciences Education. Med Sci Educ 2020 Mar 1;30(1):345-54. https://doi.org/10.1007/s40670-019-00912-0
Johnson R, Browning K, DeClerk L. Strategies to Reduce Bias and Racism in Nursing Precepted Clinical Experiences. Journal of Nursing Education 2021 Dec 1;60(12):697-702. https://doi.org/10.3928/01484834-20211103-01
Pietkiewicz I, Smith JA. A practical guide to using Interpretative Phenomenological Analysis in qualitative research psychology. Czasopismo Psychologiczne Psychological Journ al 2014;20(1). https://doi.org/10.14691/CPPJ.20.1.7
Louise Barriball K, While A. Collecting data using a semi-structured interview: a discussion paper. J Adv Nurs 1994;19(2):328-35. https://doi.org/10.1111/j.1365-2648.1994.tb01088.x
Lazarus RS. Toward better research on stress and coping. American Psychologist 2000;55(6):665-73. https://doi.org/10.1037/0003-066X.55.6.665
Abouammoh N, Irfan F, Alfaris E. Stress coping strategies among medical students and trainees in Saudi Arabia: A qualitative study. BMC Med Educ 2020 Apr 22;20(1). https://doi.org/10.1186/s12909-020-02039-y
Colenbrander L, Causer L, Haire B. "If you can't make it, you're not tough enough to do medicine": A qualitative study of Sydney-based medical students' experiences of bullying and harassment in clinical settings. BMC Med Educ 2020 Mar 24;20(1). https://doi.org/10.1186/s12909-020-02001-y
Wear D, Aultman JM, Zarconi J, Varley JD. Derogatory and cynical humour directed towards patients: Views of residents and attending doctors. Med Educ 2009;43(1):34-41. https://doi.org/10.1111/j.1365-2923.2008.03171.x
Berk R. Derogatory and cynical humour in clinical teaching and the workplace: The need for professionalism. Med Educ 2009;43(1):7-9. https://doi.org/10.1111/j.1365-2923.2008.03239.x
Tariq SG, Thrush CR, Gathright M, Spollen JJ, Graham J, Shorey JM. Crystal clear or tin ear: How do medical students interpret derogatory comments about patients and other professionals? Med Educ Online 2016;21(1). https://doi.org/10.3402/meo.v21.31221
Lazarus RS. Coping theory and research: Past, present, and future. Psychosom Med 1993; 55(3):234-47. https://doi.org/10.1097/00006842-199305000-00002
Retneswari M, Mohammed AJ, Chang SL, Hilary LS, Laijian KJ, Woon PS, et al. Stress, stressors, and coping strategies between pre-clinical andclinical medical students at universiti tunku abdul Rahman. Malaysian Journal of Public Health Medicine 2020, Vol. 20 (1): 175-183. https://doi.org/10.37268/mjphm/vol.20/no.1/art.503
Additional Files
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 The authors retain the copyrights. Authors are permitted and encouraged to post their work online (e.g. in institutional repositories or on their website), as it can lead to productive exchanges, as well as greater citation of published work.
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Readers may “Share-copy and redistribute the material in any medium or format” and “Adapt-remix, transform, and build upon the material”. The readers must give appropriate credit to the source of the material and indicate if changes were made to the material. Readers may not use the material for commercial purpose. The readers may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
