title: Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study.
abstract: McCune-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.
  
  
  
  Patients' 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.
  
  
  
  The 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.
  
  
  
  This 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.
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.
authors: Eun-Kyung
authors: EK
authors: Cho
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.
authors: Jinsup
authors: J
authors: Kim
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.
authors: Aram
authors: A
authors: Yang
authors: Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
authors: Chang-Seok
authors: CS
authors: Ki
authors: Department of Pediatrics, Inha University Hospital, Inha University Graduate School of Medicine, Incheon, Republic of Korea.
authors: Ji-Eun
authors: JE
authors: Lee
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea. nadri1217@naver.com.
authors: Sung Yoon
authors: SY
authors: Cho
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.
authors: Dong-Kyu
authors: DK
authors: Jin
mesh_terms: D000172:Acromegaly / Q000453:epidemiology / Q000235:genetics; D000293:Adolescent; D019080:Cafe-au-Lait Spots / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002864:Chromogranins / Q000235:genetics; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000453:epidemiology* / Q000235:genetics*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D000077289:Letrozole; D008297:Male; D009154:Mutation / Q000235:genetics; D009570:Nitriles / Q000627:therapeutic use; D010911:Pituitary Neoplasms / Q000453:epidemiology / Q000235:genetics; D016133:Polymerase Chain Reaction; D011629:Puberty, Precocious / Q000453:epidemiology / Q000235:genetics; D056910:Republic of Korea / Q000453:epidemiology; D012189:Retrospective Studies; D014230:Triazoles / Q000627:therapeutic use
chemical_list: D002864:Chromogranins; D009570:Nitriles; D014230:Triazoles; D000077289:Letrozole; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs
keywords: Fibrous dysplasia; GNAS; Growth hormone excess; MEMO-PCR; McCune–Albright syndrome; Peripheral precocious puberty; Pituitary adenoma