Endocrine Abstracts

JOINT3312

Objective: We report the first case of McCune-Albright syndrome (MAS) complicated with hepatic focal nodular hyperplasia (FNH) in China, summarize the clinical features and possible related factors of MAS complicated with hepatobiliary system complications, and review the literature.

Method: A retrospective analysis was conducted on the clinical data of a patient with McCune-Albright syndrome (MAS) complicated by hepatic focal nodular hyperplasia (FNH) who was admitted to the Department of Pediatrics, First Affiliated Hospital of Sun Yat-sen University on November 25, 2011, and the relevant literature was reviewed.

Result: The patient, a female now aged 17, was diagnosed with McCune-Albright syndrome (atypical, café-au-lait spots, peripheral precocious puberty) at our hospital at the age of 5 years and 3 months due to "breast development for 3 months, vaginal bleeding 4 times, and accelerated growth." Genetic testing revealed a GNAS gene mutation in the peripheral blood. She has been regularly followed up in our hospital for 12 years since then, during which her ovaries exhibited continuous hyperfunction that was difficult to control. She also had comorbidities of Cushing’s syndrome, pituitary hyperfunction, and multifocal pituitary adenomas. In the 6th year of follow-up, liver function abnormalities appeared, and hepatic imaging suggested hepatic adenoma and focal nodular hyperplasia, which largest lesion measured approximately 91*77* 72 mm (volume 262.3 cm³). The pathological examination confirmed focal nodular hyperplasia. Due to the family’s wishes, no surgical intervention was performed, and close follow-up was conducted instead. During this period, the lesion progressively enlarged to 99*82* 81 mm (volume 341.9 cm³), after which it tended to stabilize and began to decrease in size. After a follow-up period of 6 years to date, the lesion has reduced to 56*26* 26 mm (volume 19.7 cm³). During this period, liver function fluctuated with the size of the lesion, and liver function is currently normal.

Discussion: This case is the first reported in China of McCune-Albright syndrome (MAS) complicated by hepatic focal nodular hyperplasia, and the characteristics of lesion progression are reported, aiming to enrich the clinical spectrum of MAS and raise clinical awareness and attention to hepatobiliary system involvement in MAS. It is proposed that a high mutation dose of the GNAS gene, a high disease burden, and frequent or continuous autonomous ovarian function activity may be risk factors for hepatobiliary system involvement in MAS.

Keywords: McCune-Albright syndrome, hepatic focal nodular hyperplasia.