McCune-Albright syndrome and type 1 diabetes mellitus: a novel presentation.

Abstract:

:McCune-Albright syndrome (MAS) is caused by postzygotic somatic activating mutations of GNAS and is classically characterized by the clinical triad of peripheral precocious puberty, café-au-lait pigmentation, and polyostotic fibrous dysplasia. It can also present with other hyperfunctioning endocrinopathies, including growth hormone excess, hyperprolactinemia, hypercortisolemia, hyperthyroidism, and renal phosphate wasting due to excess fibroblast growth factor 23. We review the clinical, biochemical, radiological, and genetic findings in a 7-year-old girl diagnosed with MAS at age 4 and then with autoimmune type 1 diabetes mellitus at age 7. While MAS is associated with hyperglycemia secondary to growth hormone excess and hypercortisolemia, an association with diabetes mellitus has not been demonstrated. We review the unique presentation of a patient with these two rare conditions.

journal_name

Ann N Y Acad Sci

authors

Chatty P,Khattab A,Marshall I

doi

10.1111/nyas.14310

subject

Has Abstract

pub_date

2020-03-01 00:00:00

pages

5-8

issue

1

eissn

0077-8923

issn

1749-6632

journal_volume

1463

pub_type

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