Importance of general examination in diagnosis: a rare case report of a family affected with Albright’s hereditary osteodystrophy

Tony K. S.; Ananta Narwade; Pooja Ghuge; Harish Sapkal; Rahul Patil; Pravin U. Shingade; Sunil G. Ambulkar

doi:10.18203/2320-6012.ijrms20220534

Authors

Tony K. S. Department of General Medicine, Government Medical College, Nagpur, Maharashtra, India http://orcid.org/0000-0003-1863-9171
Ananta Narwade Department of General Medicine, Government Medical College, Nagpur, Maharashtra, India
Pooja Ghuge Department of General Medicine, Government Medical College, Nagpur, Maharashtra, India
Harish Sapkal Department of General Medicine, Government Medical College, Nagpur, Maharashtra, India
Rahul Patil Department of General Medicine, Government Medical College, Nagpur, Maharashtra, India
Pravin U. Shingade Department of General Medicine, Government Medical College, Nagpur, Maharashtra, India
Sunil G. Ambulkar Department of General Medicine, Government Medical College, Nagpur, Maharashtra, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20220534

Keywords:

Albright’s hereditary osteodystrophy, Pseudohypoparathyroidism, Pseudopseudohypoparathyroidism, Parathyroid hormone, Hypersplenism, Portal hypertension

Abstract

Albright’s hereditary osteodystrophy (AHO) is rare constellation of signs associated with pseudohypoparathyroidism (PHP) associated with genomic imprinting in GNAS1 gene. We described a case report of a patient with AHO phenotype with pseudopseudohypoparathyroidism (PPHP) with associated chronic liver disease and its complications and her pedigree analysis.

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Author Biography

Tony K. S., Department of General Medicine, Government Medical College, Nagpur, Maharashtra, India

senior resident

department of general medicine

government medical college

nagpur

References

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