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Volume 351:2559-2560 December 9, 2004 Number 24
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Failure of Sexual Maturation in Mulibrey Nanism

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To the Editor: We report an association between a rare genetic disease and both premature ovarian failure and fibrothecomas (ovarian stromal tumors). Mulibrey nanism, an autosomal recessive disorder in which growth restriction begins in utero,1 is caused by mutations in the TRIM37 gene for a peroxisomal protein of unknown function.2,3 Worldwide, approximately 110 patients with this disorder are known, of whom 85 are Finnish. We reviewed the hospital and autopsy reports of the 22 Finnish female postpubertal patients with mulibrey nanism; 15 had a follow-up that included a gynecologic examination, pelvic ultrasonography, and a biochemical assessment of ovarian function. Five . . . [Full Text of this Article]


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