McCune-Albright Syndrome in Infant with Growth Hormone Excess.

ABSTRACT:

Background

McCune-Albright is a rare syndrome, caused by mutation of the GNAS1 gene, and is characterized by an appearance of multiple endocrinopathies, most commonly premature puberty, polyostotic fibrous dysplasia and skin changes called cafe au lait macules.

Case report

We present the case of a patient who is, to the best of our knowledge and after extensive review of literature, the youngest McCune-Albright syndrome patient with growth hormone excess, diagnosed at 8.9 months of age. An extensive diagnostic procedure was done upon the diagnosis. Hormonal assessment was performed and all hormone levels were within reference range, and an additional oral glucose suppression that noted the presence of growth hormone excess. Magnetic resonance imaging of the pit

SUBMITTER: Brzica K 

PROVIDER: S-EPMC9407244 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature