title: Macroorchidism in an Indian boy with McCune-Albright syndrome.
abstract: McCune-Albright syndrome (MAS) is defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait spots and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. The authors report a case of MAS in an Indian boy who had history of unilateral macroorchidism (but no other signs of MAS) since birth, then presented with PP, FD and café-au-lait spots at 6 years of age. On examination he had asymmetry of the face, café-au-lait spots and signs of sexual precocity with a right testicular volume of 25 ml (left 8 ml). Investigations revealed suppressed gonadotropins with elevated testosterone levels. Skeletal survey showed dysplastic changes involving multiple bones and advanced bone age. Reports of MAS in a boy with unilateral macroorchidism are scarce. Thus, unilateral macroorchidism at birth in a baby may be a feature of MAS and should be followed up with care.
authors.affiliation: Pediatric Endocrinology, Department of Pediatrics, Bharati Vidyapeeth University Medical College, Pune, India.
authors.forename: Vaishakhi T
authors.initials: VT
authors.lastname: Rustagi
authors.forename: Vaman V
authors.initials: VV
authors.lastname: Khadilkar
authors.forename: Anuradha V
authors.initials: AV
authors.lastname: Khadilkar
authors.forename: Arun S
authors.initials: AS
authors.lastname: Kinare
mesh_terms: D002648:Child; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications*; D006801:Humans; D008297:Male; D009929:Organ Size; D013737:Testis / Q000002:abnormalities* / Q000473:pathology