title: Characterization and management of testicular pathology in McCune-Albright syndrome.
abstract: BACKGROUND
  The testicular phenotype in McCune-Albright syndrome (MAS) has not been well characterized. Boys present with a relatively low incidence of precocious puberty in comparison with girls. Radiographic and histological studies are limited to small series and case reports, which report testicular microlithiasis and Sertoli cell hyperplasia.
  
  
  OBJECTIVE
  Our objective was to characterize the biochemical, radiological, and histological spectrum and clinical management of testicular pathology in males with MAS.
  
  
  METHODS
  Fifty-four males with MAS participated in this prospective cohort study at a clinical research center.
  
  
  METHODS
  Evaluation included testicular exam, pubertal staging, testicular ultrasound, measurement of LH, FSH, and testosterone. Orchiectomies were performed when considered clinically indicated.
  
  
  METHODS
  Prevalence and characterization of ultrasound lesions with correlation to histology were evaluated.
  
  
  RESULTS
  Of 54 males, 44 (81%) presented with ultrasound abnormalities including hyperechoic lesions (49%), hypoechoic lesions (30%), microlithiasis (30%), heterogeneity (47%), and focal calcifications (11%). Eight subjects underwent orchiectomy revealing large foci of Leydig cell hyperplasia, which could not be definitively distinguished from Leydig cell tumor. After no subjects developed clinical malignancy, a conservative approach was instituted, and subsequent subjects were followed with serial imaging. Testosterone and gonadotropins were normal in subjects without precocious puberty or pituitary disease. Eleven (21%) presented with precocious puberty, and a combination of aromatase inhibitors, androgen receptor blockers, and leuprolide resulted in improved predicted adult height. In addition, the first cases of testicular adrenal rest and bilateral germ cell tumors in association with MAS are presented.
  
  
  CONCLUSIONS
  Contrary to prevailing thinking, the incidence of gonadal pathology in MAS is equal in males and females. The predominant histopathological finding was Leydig cell hyperplasia, which carries a low risk of malignant transformation and can be managed conservatively.
authors: Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA. boyceam@mail.nih.gov
authors: Alison M
authors: AM
authors: Boyce
authors: William H
authors: WH
authors: Chong
authors: Thomas H
authors: TH
authors: Shawker
authors: Peter A
authors: PA
authors: Pinto
authors: W Marsten
authors: WM
authors: Linehan
authors: Nisan
authors: N
authors: Bhattacharryya
authors: Maria J
authors: MJ
authors: Merino
authors: Frederick R
authors: FR
authors: Singer
authors: Michael T
authors: MT
authors: Collins
mesh_terms: D000293:Adolescent; D000304:Adrenal Cortex Function Tests; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications / Q000473:pathology* / Q000628:therapy*; D005640:Follicle Stimulating Hormone / Q000097:blood; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D020347:Lithiasis / Q000473:pathology; D008137:Longitudinal Studies; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D008875:Middle Aged; D009919:Orchiectomy; D011446:Prospective Studies; D011627:Puberty / Q000502:physiology; D012708:Sertoli Cells / Q000473:pathology; D013733:Testicular Diseases / Q000209:etiology / Q000473:pathology* / Q000628:therapy*; D013737:Testis / Q000000981:diagnostic imaging / Q000473:pathology; D013739:Testosterone / Q000097:blood; D014463:Ultrasonography; D055815:Young Adult
chemical_list: D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone