Uniparental disomy (UPD) is the inheritance of a chromosome pair from one parent and is increasingly recognized as a cause of abnormal phenotypes either due to imprinted genes or, in the case of isodisomy, to homozygosity of recessive alleles. Maternal uniparental disomy for chromosome 14 (matUPD) may cause a characteristic phenotype including precocious puberty. Central precocious puberty (CPP) was diagnosed in a 6-year-old girl with some dysmorphic features, truncal obesity, small hands, and small feet. Cytogenetic analysis of her peripheral blood demonstrated chromosomal rearrangement: Robertsonian translocation 45, XX, der(13;14)(q10;q10). MatUPD(14) was demonstrated in the patient by haplotype analysis of chromosome 14, showing that the CPP is one of the features caused by matUPD(14). The CPP was successfully treated with higher dosage of long-acting gonadotropin releasing hormone (GnRH) analogue, Leuprolide®, 90 μg/kg/month. This is the first report that describes GnRH analogue treatment for CPP associated with matUPD(14), suggesting that the GnRH analogue treatment is appropriate even for such a specific type of CPP.
2005 Tohoku University Medical Press