McCune-Albright syndrome in a boy may present with a monolateral macroorchidism as an early and isolated clinical manifestation.
BACKGROUND
Testis enlargement in McCune-Albright syndrome (MAS) is generally bilateral and associated with clinical and biochemical manifestations of sexual precocity.


METHODS
We describe for the first time an unreported clinical expression of MAS in a 4.6-year-old boy presenting with monolateral testis enlargement and no signs of sexual precocity or other clinical manifestations of MAS at the time of presenting with macroorchidism. Both testosterone and LHRH-stimulated gonadotropin levels were in the prepubertal range. Serum inhibin B was increased to a pubertal level indicating Sertoli cell activation. The histological and immunocytochemical evaluation of the enlarged testis revealed Sertoli cell hyperplasia with no mature Leydig cells. Mutation R201C of GNAS1 gene, classically responsible for MAS, was identified in DNA samples from the right testis biopsy and leukocytes.


CONCLUSIONS
(a) MAS should be taken into consideration in the clinicopathological approach to a boy with monolateral macroorchidism; (b) testicular enlargement may be only the presenting clinical manifestation of MAS and is not necessarily linked to manifestations of peripheral precocious puberty; (c) testicular autonomous hyperfunction in MAS may be restricted to Sertoli cells, as also demonstrated previously by others.
Arrigo
Teresa
T
Department of Pediatrics, University of Messina, Messina, Italy.
Pirazzoli
Piero
P
De Sanctis
Luisa
L
Leone
Ornella
O
Wasniewska
Malgorzata
M
Messina
Maria Francesca
MF
De Luca
Filippo
F
D000951:Antigens, Neoplasm; D002675:Child, Preschool; D002864:Chromogranins; D003937:Diagnosis, Differential; D005359:Fibrous Dysplasia, Polyostotic / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics / Q000502:physiology; D006062:Gonadotropins / Q000097:blood; D006801:Humans; D006965:Hyperplasia; D007150:Immunohistochemistry; D007265:Inhibins / Q000097:blood; D058965:MART-1 Antigen; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000032:analysis; D011629:Puberty, Precocious / Q000175:diagnosis; D012708:Sertoli Cells / Q000737:chemistry / Q000473:pathology; D013737:Testis / Q000002:abnormalities* / Q000473:pathology; D013739:Testosterone / Q000097:blood
D000951:Antigens, Neoplasm; D002864:Chromogranins; D006062:Gonadotropins; D058965:MART-1 Antigen; C548667:MLANA protein, human; D009363:Neoplasm Proteins; C422364:inhibin B; D013739:Testosterone; D007265:Inhibins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs