Causes of Precocious Puberty : Multicenter Study in Honam Area / 대한소아내분비학회지

PURPOSE:We analysed the spectrum of diagnoses made in a consecutive group of children referred for signs of precocious puberty and evaluated the clinical and endocrinologic characteristics. METHODS:Retrospective analysis of 375 children (365 girls and 10 boys) referred for evaluation of signs of precocious puberty between January 2003 and May 2007 was done. Results:The conditions causing precocious puberty were early puberty (36.3%), true precocious puberty (30.4%), premature thelarche (29.1%), pseudo-precocious puberty (3.7%), and premature pubarche (0.5%). Among girls, there were differences in the age of onset of puberty (premature thelarche, 5.4+/-2.6 years vs. true precocious puberty, 6.9+/-1.1 years vs. early puberty, 8.6+/-0.5 years). True precocious puberty girls showed higher height SDS (standard deviation score), weight SDS, BMI (body mass index) percentile, basal FSH (follicle stimulating hormone), LH (luteinizing hormone) and estradiol, more accelerated growth velocity and bone age than those with premature thelarche. True precocious puberty patients showed higher height SDS, weight SDS, and more bone age advancement when compared to those with early puberty. Later onset (>2 years) premature thelarche appeared in 89 girls (81.7% of premature thelarche) at 6.4+/-1.6 years, and among 42 patients followed-up, 8 girls developed true precocious puberty later. CONCLUSION:Common conditions causing precocious puberty are early puberty, true precocious puberty, and premature thelarche. Although premature thelarche may be regarded as a benign condition, true precocious puberty can develop in some patients, so careful follow-up will be needed.

A Case of Miller-Dieker Syndrome with Infantile Spasm and Lennox-Gastaut Syndrome / 대한소아신경학회지

Miller-Dieker syndrome is a contiguous gene deletion syndrome involving chromosome 17p13.3, which is characterized by type 1(classical) lissencephaly and typical craniofacial abnormalities. Children with Miller-Dieker syndrome have profound psychomotor retardation, seizures that often are intractable, chronic feeding problems that lead to recurrent pneumonia, and shortened lifespan. We have experienced a Miller-Dieker syndrome female who has lived to 8years, showing severe mental and motor retardation and intractable epilepsy. She was diagnosed as Miller-Dieker syndrome in the neonatal period, showing typical facial features, type 1 lissencephaly, and chromosome 17p13.3 microdeletion in fluorescence in situ hybridization. Infantile spasm occurred at 4 months of age and progressed to Lennox-Gastaut syndrome at 3 years and 6 months, both of which were not controlled by antiepileptic drugs.