Alström’s syndrome with Kleinfelter’s karyotype

New Alström Syndrome Phenotypes Based on the Evaluation of 182 Cases

“…The remaining 161 patients (78 females and 83 males; age range, 18 months to 48 years) includes 88 new patients and 47 kindreds previously described. [3][4][5][6][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] The consanguinity rate was 30%. Thirty-one of the 161 patients died during study observation: 12 of CHF (age range, 10-27 years), 7 of renal failure (age range, 22-48 years), 4 of pulmonary failure (age range, 29-42 years), 3 of liver failure (age range, 21-32 years), and 5 of undetermined causes (age range, 9-48 years).…”

Perspectives in Pediatric Pathology, Chapter 21. Testicular Pathology in Heritable Metabolic Disease

“…Histologically, seminiferous tubules show atrophy and fibrosis, and the testicular interstitium has sparse Leydig cells [143]. Association between Alström and Klinefelter syndromes has been reported [144].…”