Abstract：
:In Prader-Willi syndrome (PWS) hypothalamic dysfunction is the cause of hormonal disturbances, such as growth hormone deficiency (GHD), hypogonadism, and delayed or incomplete puberty. Only a few cases of central precocious puberty (CPP) have been reported. We describe an 8.8-year-old PWS boy, with microdeletion of chromosome 15q, who developed CPP. On admission, height was 131.1 cm (+0.17 SD), BMI 26.2 kg/m(2), pubic hair (Ph) 2, and testis 4.5 ml. We found increased growth velocity (7 cm/year), high testosterone levels, pubertal response to GnRH test, and advanced bone age (10.6 years). An evaluation of growth hormone (GH) secretion revealed a deficiency. Pituitary MRI was normal. LHRH analogue therapy (Leuproreline 3.75 mg/28 days i.m.) was started at 8.9 years and discontinued at 11.3 years, when the patient had bone age of 13 years. During therapy, growth velocity, testosterone, FSH, and LH peak decreased significantly, with no pubertal progression. Growth hormone therapy (0.24 mg/kg/week) was started at 9.5 years and discontinued at 15.3 years because the patient had bone age of 17 years. After interrupting LHRH therapy the patient demonstrated spontaneous pubertal progression with pubertal gonadotropin and testosterone. At 16.3 years, height was 170 cm (-0.48 SDS), BMI 36.3 kg/m(2), Ph 4, testis volume 10 ml and there was a combined hypothalamic and peripheral hypogonadism hormonal pattern (normal LH even with low testosterone and undetectable inhibin B with high FSH). To our knowledge this is the fourth male patient with genetically-confirmed PWS demonstrating CPP and GHD and the first with a long follow-up to young adulthood.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Crinò A,Di Giorgio G,Schiaffini R,Fierabracci A,Spera S,Maggioni A,Gattinara GCdoi
10.1007/s00431-008-0679-0subject
Has Abstractpub_date
2008-12-01 00:00:00pages
1455-8issue
12eissn
0340-6199issn
1432-1076journal_volume
167pub_type
杂志文章abstract：UNLABELLED:Aim of our study was to evaluate Doppler renal blood flow velocity in asphyxiated neonates and to correlate renal function to Doppler findings. Doppler renal blood flow velocity was evaluated in 23 severely asphyxiated neonates born at a gestational age > 32 weeks and compared to our standard Doppler data ob...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050905
更新日期：1998-08-01 00:00:00
abstract：:Vitamin K prophylaxis in infancy aims to prevent life-threatening vitamin K deficiency bleeding (VKDB). The Dutch prophylactic oral daily regimen was increased sixfold from 25 to 150 μg because of a high failure rate. To evaluate the efficacy of this new regimen, incidences of intracranial VKDB under both regimens wer...
journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
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doi：10.1007/BF01957524
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journal_title：European journal of pediatrics
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abstract：:The four-principles approach of Beauchamp and Childress has had a huge influence in many areas of medicine, including Pediatrics. There is a risk that such universalist principles fail to take into account cultural differences. This is an important point but there is a need to see the more nuanced aspects of the appro...
journal_title：European journal of pediatrics
pub_type： 评论,社论
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journal_title：European journal of pediatrics
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doi：10.1007/s00431-003-1173-3
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
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doi：10.1007/s00431-012-1800-y
更新日期：2013-03-01 00:00:00
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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abstract：: ...
journal_title：European journal of pediatrics
pub_type： 信件
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00442468
更新日期：1988-08-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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更新日期：2007-12-01 00:00:00
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journal_title：European journal of pediatrics
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doi：
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journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02125449
更新日期：1993-01-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0707-0
更新日期：2009-01-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02073374
更新日期：1993-10-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441493
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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journal_title：European journal of pediatrics
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journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
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journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
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journal_title：European journal of pediatrics
pub_type： 信件
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更新日期：2000-07-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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更新日期：2000-08-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章
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更新日期：1991-02-01 00:00:00
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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journal_title：European journal of pediatrics
pub_type： 杂志文章
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journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02115626
更新日期：1996-01-01 00:00:00
