Tohoku J. Exp. Med., 2005, 207(4)

Case Report

Long-Acting Gonadotropin-Releasing Hormone Analogue Treatment for Central Precocious Puberty in Maternal Uniparental Disomy Chromosome 14

IKUKO TAKAHASHI, TSUTOMU TAKAHASHI, MAKI UTSUNOMIYA¹, GORO TAKADA and AKIO KOIZUMI¹

Department of Pediatrics, Akita University School of Medicine, Akita, Japan, and ¹Graduate School of Medicine, Department of Health and Environment Sciences, Kyoto University, Kyoto, Japan

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[14]) 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.

keywords —— maternal uniparental disomy; chromosome 14; precocious puberty, long-acting GnRH analogue

© 2005 Tohoku University Medical Press

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Tohoku J. Exp. Med., 2005, 207, 333-338

Correspondence: Tsutomu Takahashi, Department of Pediatrics, Akita University School of Medicine, 1-1-1 Hondo, Akita 010-8543, Japan.

e-mail: tomy@med.akita-u.ac.jp