BackgroundMcCune–Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few individuals with MAS have been reported in Korea. We describe the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea.MethodsPatients’ clinical data—including peripheral PP, FD, and other endocrine problems—were reviewed retrospectively. In addition, treatment experiences of letrozole in five patients with peripheral PP were described. Mutant enrichment with 3′-modified oligonucleotides - polymerase chain reaction (MEMO-PCR) was performed on eight patients to detect mutation in GNAS using blood. MEMO-PCR is a simple and practical method that enables the nondestructive selection and enrichment of minor mutant alleles in blood.ResultsThe median age at diagnosis was 5 years 2 months (range: 18 months to 16 years). Eleven patients were female, and three were male. Thirteen patients showed FD. All female patients showed peripheral PP at onset, and three patients subsequently developed central PP. There was a significant decrease in estradiol levels after two years of letrozole treatment. However, bone age was advanced in four patients. Two patients had clinical hyperthyroidism, and two patients had growth hormone (GH) excess with pituitary microadenoma. c.602G > A (p.Arg201His) in GNAS was detected in two patients in blood, and c.601C > T (p.Arg201Cys) in GNAS was detected in one patient in pituitary adenoma.ConclusionsThis study described the various clinical manifestations of 14 patients with MAS in a single center in Korea. This study first applied MEMO-PCR on MAS patients to detect GNAS mutation. Because a broad spectrum of endocrine manifestations could be found in MAS, multiple endocrinopathies should be monitored in MAS patients. Better treatment options for peripheral PP with MAS are needed.
고려대학교 안산병원 신경과, 3
강원대학교 의학과대학원 진단검사의학전공Carotid artery intima-media thickness (CIMT) test is a standardized ultrasound procedure that screens for and monitors atherosclerosis in a safe and non-invasive manner, even in individuals with no symptoms of heart disease. The purpose of this study was to research the relationship between CIMT, as measured by ultrasonography, and the degree of individual perceived stress. There was a total of 168 (male: 46, female: 122) university students in Suwon-si, Gyeonggi-do, Korea, without other diseases. Written informed consent was obtained from all participants. CIMT was measured in the right and left common carotid arteries 1 cm below the bifurcation, and internal carotid artery, using non-invasive high-resolution Medison Accuvix V20 prestige ultrasound equipment and perceived stress, was measured with the 10-item PSS (Perceived Stress Scale) questionnaire. This study indicates that PSS may be appropriate to estimate perceived stress levels and weight. Failure to control stress anxiety could lead to weight and CIMT soaring to dangerous levels, resulting in a myocardial infarction or cerebrovascular accident. There was a statistically significant difference between left CIMT (p<0.05) and weight (p<0.05) according to each stress classification. The results of this study suggest that the weight measurement is influenced in part by one's generalized stress levels. Future continuous studies should be conducted to test the influences of perceived stress and generalized anxiety on CIMT when these are many continuous variables.
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