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Indian J Pediatr. 2011 Sep;78(9):1145-7. doi: 10.1007/s12098-011-0380-6. Epub 2011 Feb 15.

Macroorchidism in an Indian boy with McCune-Albright syndrome.

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Pediatric Endocrinology, Department of Pediatrics, Bharati Vidyapeeth University Medical College, Pune, India.


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.

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