The aim of this study was to examine whether CAG/GGN repeats are significant modulators of serum concentrations of total and free testosterone(T)as well as of luteinizing hormone(LH)in elderly men.Sixty-nine 60-to 80-...The aim of this study was to examine whether CAG/GGN repeats are significant modulators of serum concentrations of total and free testosterone(T)as well as of luteinizing hormone(LH)in elderly men.Sixty-nine 60-to 80-year-old men with subnormal T levels(≤11.0 nmol L^(-1))and 104 men with normal T levels taking part in a nested case-control study were used for these analyses.Sex hormones were measured and free T was calculated.The CAG and GGN polymorphisms in the androgen receptor gene were determined by polymerase chain reaction and subsequent direct sequencing.There were no differences in the CAG and GGN repeat lengths between the groups.In cross-sectional analyses of the whole cohort,total and free T were positively associated with CAG length(all P<0.05)before,but not after,waist circumference or body mass index was added to the model.CAG repeat lengths were weakly,but not independently,associated with total and free T.These findings indicate that when clinically evaluating T and LH levels in elderly men,the CAG and GGN repeat lengths do not need to be taken into consideration.展开更多
目的:报道2例家族性男性性早熟(familial male-limited precious puberty,FMPP)患者的临床特征、基因检测结果及治疗结果。方法:对2例FMPP患者进行详细的病史采集及体格检查,行促性腺激素释放激素(gonadotropinreleasing hormone, GnRH...目的:报道2例家族性男性性早熟(familial male-limited precious puberty,FMPP)患者的临床特征、基因检测结果及治疗结果。方法:对2例FMPP患者进行详细的病史采集及体格检查,行促性腺激素释放激素(gonadotropinreleasing hormone, GnRH)激发试验、性激素、肾上腺皮质激素等检测以及相关影像学检查,同时采集相关家系成员的外周血进行基因检测,并在中文数据库及PubMed数据库中检索相关文献,进行综合探讨。结果:2例患者的初诊年龄分别为6岁1个月龄(病例1)和3岁7个月龄(病例2),均表现为阴茎、睾丸增大、生长加速、骨龄超前,病例2伴有攻击行为。实验室检查提示,2例患者的黄体生成素峰值分别为7.28 mIU/mL和4.96 mIU/mL,基础睾酮水平升高达2.49 ng/mL和3.58 ng/mL,而影像学检查未见异常。根据2例患者的病史及各项检查结果,临床诊断为中枢性性早熟。经基因检测显示,2例患儿的黄体生成素/人绒毛膜促性腺激素受体(luteinizing hormone/choriogonadotropin receptor,LHCGR)基因上均存在杂合变异[病例1存在c.1756TCTdel(p.Ser586del)变异来自其父亲;病例2存在c.1723A>C(p.Ile575Leu)变异,来自其母亲],根据美国医学遗传学与基因组学学会(The American College of Medical Genetics and Genomics, ACMG)指南评定为可能的致病性变异,故明确2例患儿均为继发于LHCGR基因突变的中枢性性早熟。检索数据库,分析35例FMPP资料完整的患者,中位发病时间在4岁,加入例1的变异,计18种基因变异被报道。结论:本文报道2例罕见FMPP病例,均为LHCGR基因突变导致,其中病例1的突变类型为国内外首次报道,病例2的突变类型已有报道。临床对于年龄小、起病或治疗效果欠佳的中枢性性早熟男童,需进一步明确有无LHCGR基因突变。展开更多
基金the Swedish Research Council(Grant Nos.521-2004-6072 and K2005-72X-14545-03A)the Swedish Cancer Society(Grant Nos.4857-B05-03XCC,070482 and 070139)the Gunnar Nilsson Cancer Fund and the Center for Research in the Elderly in Tromsø,Norway.
文摘The aim of this study was to examine whether CAG/GGN repeats are significant modulators of serum concentrations of total and free testosterone(T)as well as of luteinizing hormone(LH)in elderly men.Sixty-nine 60-to 80-year-old men with subnormal T levels(≤11.0 nmol L^(-1))and 104 men with normal T levels taking part in a nested case-control study were used for these analyses.Sex hormones were measured and free T was calculated.The CAG and GGN polymorphisms in the androgen receptor gene were determined by polymerase chain reaction and subsequent direct sequencing.There were no differences in the CAG and GGN repeat lengths between the groups.In cross-sectional analyses of the whole cohort,total and free T were positively associated with CAG length(all P<0.05)before,but not after,waist circumference or body mass index was added to the model.CAG repeat lengths were weakly,but not independently,associated with total and free T.These findings indicate that when clinically evaluating T and LH levels in elderly men,the CAG and GGN repeat lengths do not need to be taken into consideration.
文摘目的:报道2例家族性男性性早熟(familial male-limited precious puberty,FMPP)患者的临床特征、基因检测结果及治疗结果。方法:对2例FMPP患者进行详细的病史采集及体格检查,行促性腺激素释放激素(gonadotropinreleasing hormone, GnRH)激发试验、性激素、肾上腺皮质激素等检测以及相关影像学检查,同时采集相关家系成员的外周血进行基因检测,并在中文数据库及PubMed数据库中检索相关文献,进行综合探讨。结果:2例患者的初诊年龄分别为6岁1个月龄(病例1)和3岁7个月龄(病例2),均表现为阴茎、睾丸增大、生长加速、骨龄超前,病例2伴有攻击行为。实验室检查提示,2例患者的黄体生成素峰值分别为7.28 mIU/mL和4.96 mIU/mL,基础睾酮水平升高达2.49 ng/mL和3.58 ng/mL,而影像学检查未见异常。根据2例患者的病史及各项检查结果,临床诊断为中枢性性早熟。经基因检测显示,2例患儿的黄体生成素/人绒毛膜促性腺激素受体(luteinizing hormone/choriogonadotropin receptor,LHCGR)基因上均存在杂合变异[病例1存在c.1756TCTdel(p.Ser586del)变异来自其父亲;病例2存在c.1723A>C(p.Ile575Leu)变异,来自其母亲],根据美国医学遗传学与基因组学学会(The American College of Medical Genetics and Genomics, ACMG)指南评定为可能的致病性变异,故明确2例患儿均为继发于LHCGR基因突变的中枢性性早熟。检索数据库,分析35例FMPP资料完整的患者,中位发病时间在4岁,加入例1的变异,计18种基因变异被报道。结论:本文报道2例罕见FMPP病例,均为LHCGR基因突变导致,其中病例1的突变类型为国内外首次报道,病例2的突变类型已有报道。临床对于年龄小、起病或治疗效果欠佳的中枢性性早熟男童,需进一步明确有无LHCGR基因突变。
