title: Unusual phenotypical variations in a boy with McCune-Albright syndrome.
abstract: BACKGROUND
  McCune-Albright syndrome (MAS) typically comprises the constellation of polyostotic fibrous dysplasia, café-au-lait spots, and associated endocrinopathies including gonadotropin-independent precocious puberty, excessive growth hormone production and gigantism, hyperthyroidism, and hyperparathyroidism.
  
  
  OBJECTIVE
  We report the unique case of a boy with the diagnostic criteria of MAS accompanied by atypical short stature and macroorchidism without precocious puberty.
  
  
  METHODS
  An 8.4-year-old prepubertal boy presented with a history of recurrent bone fractures, multiple café-au-lait spots, bilateral macroorchidism, and short stature. X-ray of the extremities was consistent with polyostotic fibrous dysplasia. Serum inhibin B (IB) and anti-müllerian hormone (AMH) were elevated; testosterone, LH, and FSH were normal for age.
  
  
  RESULTS
  PCR-based DNA analysis of bone tissue revealed a substitution of arginine for cysteine at position 201 in the G(s)alpha protein resulting in activation of the G(s)alpha subunit.
  
  
  CONCLUSIONS
  We report a second case of MAS associated with macroorchidism. In this case, isolated Sertoli cell hyperfunction was also associated with microlithiasis and was not associated with peripheral precocious puberty. Short stature not associated with GH-IGF-1 axis abnormality was a second anomalous finding in this case. Our experience suggests that the phenotypic variation in MAS is wider than previously described.
authors.affiliation: Division of Pediatric Endocrinology, Maimonides Infants and Children's Hospital of Brooklyn, Brooklyn, NY 11219, USA.
authors.forename: Irene
authors.initials: I
authors.lastname: Mamkin
authors.forename: Pascal
authors.initials: P
authors.lastname: Philibert
authors.forename: Henry
authors.initials: H
authors.lastname: Anhalt
authors.forename: Svetlana
authors.initials: S
authors.lastname: Ten
authors.forename: Charles
authors.initials: C
authors.lastname: Sultan
mesh_terms: D001483:Base Sequence; D002648:Child; D004164:Diphosphonates / Q000627:therapeutic use; D005359:Fibrous Dysplasia, Polyostotic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D050723:Fractures, Bone / Q000150:complications / Q000235:genetics; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006130:Growth Disorders / Q000188:drug therapy; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D020347:Lithiasis / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D000077268:Pamidronate; D010641:Phenotype; D012708:Sertoli Cells / Q000473:pathology; D013737:Testis / Q000002:abnormalities; D016896:Treatment Outcome
chemical_list: D004164:Diphosphonates; D019382:Human Growth Hormone; D019205:GTP-Binding Protein alpha Subunits, Gs; D000077268:Pamidronate