McCune Albright Syndrome: A Case Report

Subhana Thapa Karki,Vandana Jain

doi:10.3126/jnps.v40i2.29099

Abstract

McCune Albright syndrome (MAS) is a very rare genetic disease characterised by any two of the following three findings: café au lait spots, polyosteotic fibrous dysplasia and endocrine disorders. The clinical presentation of MAS may vary depending on which of the various components of the syndrome predominate. Here, we report one case of MAS presenting with precocious puberty.

Highlights

McCune-Albright Syndrome (MAS) is a rare disorder defined by the triad of peripheral precocious puberty, café-au-lait skin pigmentation and fibrous dysplasia of bone
The syndrome might influence the functioning of other hormones acting through the Gs alpha subunit (TSH, GHRH, ACTH and PTH) and may be associated with endocrinopathies such as hyperthyroidism, gigantism or acromegaly, Cushing syndrome, hyperparathyroidism and hypophosphatemic rickets
alkaline phosphatase (ALP) was persistently high though calcium, phosphorus, thyroid function tests, E2 and PTH were normal, there was no vaginal bleeding but pain and limb deformity was persistent

Summary

INTRODUCTION

McCune-Albright Syndrome (MAS) is a rare disorder defined by the triad of peripheral precocious puberty, café-au-lait skin pigmentation and fibrous dysplasia of bone. Treatment was started with vitamin D and calcium supplements, anastrazole 1 mg once daily in view of precocious puberty and bisphosphonate therapy with alendronate 5 mg BD After two months, her breasts size regressed to stage 2 and serum Ca/P became normal and ALP was decreased than before and estradiol was undetectable. ALP was persistently high though calcium, phosphorus, thyroid function tests, E2 and PTH were normal, there was no vaginal bleeding but pain and limb deformity was persistent. Supplementation was given from the age of eight years with frequent monitoring of calcium, phosphorus and ALP Later on, her bony pain regressed but the deformity was persistent and she gained normal hormonal study. Thyroxine was added along with alendronate, phosphate, and vitamin D

DISCUSSION

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