青少年男性性腺功能减退与胰岛素抵抗关系的初步研究

目的:探讨青少年男性血清睾酮水平和胰岛素抵抗之间的关系。方法:采用病例对照的方法。研究组为21例15~30岁性腺功能减退的男性患者,对照组为11例年龄和体重指数(BM I)相匹配的已完成青春期发育的健康男性。所有受试者均测定身高、体重、染色体、骨龄、血清促性腺激素和总睾酮(TT)水平,行3 h口服葡萄糖耐量试验(OGTT)测定0、30、60、120、180 m in的血糖和胰岛素水平。对两组间空腹血糖水平、空腹血清胰岛素水平、OGTT时血糖和胰岛素曲线下面积及HOMA胰岛素抵抗指数(HOMA-IR)进行比较。结果:①研究组平均血清TT水平为(0.9±0.6)nmol/L。其中5例K linefelter综合征患者已有青春期发育,Tanner分级达P3以上,其他16例低促性腺激素型性腺功能减退的患者无青春期发育。②研究组和对照组间的空腹血糖水平、3 h OGTT血糖和胰岛素曲线下面积差异无显著性。③研究组中有3例患者经OGTT诊断为糖耐量受损(IGT)。研究组患者糖负荷后胰岛素分泌高峰均在服糖后30 m in出现。对照组中无IGT或糖尿病患者。④在两组之间,HOMA-IR和空腹胰岛素水平的差异有显著性(P分别为0.021和0.018)。结论:①血清TT水平低下的青少年男性出现糖耐量低减的发生率高于对照组。②血清TT水平低下的青少年男性,空腹胰岛素水平和HOMA-IR均显著高于对照组,提示睾酮缺乏可能导致患者对胰岛素的抵抗。     

老年男性勃起功能及迟发性性腺功能减退症状与下尿路症状严重性的关系

本文旨在研究土耳其爱琴海地区的老年男性下尿路症状（LUTSs）、勃起功能障碍（ED）和有症状的迟发性性腺功能减退症（SLOH）三者间的关系。符合以下标准的500名男性患者被纳入该研究：40周岁以上;过去6个月内有稳定的性关系;在六个泌尿外科诊所之一进行过就诊登记。每位患者均行血清PSA、睾酮水平及尿流率的检测,并填写国际前列腺症状评分和生活质量评分（IPSS-QoL）量表、国际勃起功能指数（IIEF）问卷和老年男性症状（AMS）量表。在所有的研究对象中,23．9％的患者有轻度LUTSs,53．3％有中度LUTSS,22．8％有重度LUTSS。每组间总睾酮水平无明显差异。除此之外,69．6％的病人患有ED,且ED的发生率与LUTS严重性呈正相关。71．2％的患者出现SLOH（AMS〉27）,且IPSS评分越高,严重的性腺功能减退症状的发生率也越高。相关性分析显示以上三种问卷分数之间有显著关联。总之,LUTS严重性是ED和SLOH的非年龄依赖性危险因素,LUTS严重性和SLOH症状之间似乎有显著的相关性,但还需要从病因学和生物学角度进行深入阐明。     

Predictors of pilosebaceous unit responsiveness to testosterone therapy in patients with hypogonadotrophic hypogonadism

Testosterone replacement therapy is the mainstay of treatment in male patients with isolated hypogonadotrophic hypogonadism (HH) to achieve virilisation. However, responsiveness of pilosebaceous unit (PSU) to testosterone replacement therapy in these patients is quite variable. Androgen action is inversely proportional to the number of CAG repeats in exon 1 of androgen receptor gene; therefore, we hypothesised that CAG repeat length contributes to testosterone responsiveness in patients with HH. The CAG repeat length in 21 well-virilised men (hair score > 30, responders) and 25 poorly virilised men (hair score ≤ 30, non-responders) with HH on optimal testosterone replacement therapy at least for a period of 1 year was analysed. Serum LH, FSH, testosterone and 17 β oestradiol were estimated. Polymerase chain reaction (PCR) amplification of exon 1 of androgen receptor gene was performed from genomic DNA, and these PCR-amplified products were sequenced for the number of CAG repeats. The difference between number of CAG repeats in responders and non-responders was statistically significant (19.19 ± 3.25 and 22.24 ± 2.65, P = 0.001) and showed a strong negative correlation with total body hair score (r = -0.538 and P = 0.0001). In conclusion, these results suggest that the number of CAG repeats influences the responsiveness of PSU to testosterone treatment in patients with HH.     

补肾方对自然衰老大鼠睾酮调节作用及机制研究

目的:探讨补肾方对自然衰老大鼠睾酮调节作用及机制,为临床治疗迟发性睾丸功能减退提供理论和实验依据。方法:将32只18月龄老年雄性SD大鼠随机分为4组,自然衰老模型组,补肾方低、中、高剂量组,每组8只;另选4月龄青年雄性SD大鼠8只作为正常对照。正常对照组、自然衰老模型组予生理盐水,补肾方低剂量、中剂量、高剂量组分别按生药量3.25、7.5、15.0 g/kg体重予中药复方连续灌胃,各组给药3周后处死。采用苏木精-伊红(HE)染色观察大鼠睾丸组织形态,放免法检测大鼠血清睾酮水平,RT-PCR法检测大鼠类固醇合成急性调节蛋白(StAR)、细胞色素胆固醇侧链裂解酶(P450 scc)、3β-羟类固醇脱氢酶Ⅰ(3β-HSDⅠ)mRNA的相对表达。结果:睾丸组织病理切片显示补肾方干预后大鼠睾丸间质细胞数目增多,补肾方低、中、高剂量组血清睾酮水平[(6.74±1.56)、(8.50±1.99)、(12.41±2.91)nmol/L]与自然衰老模型组[(3.48±0.75)nmol/L]比较显著提高(P<0.05),睾酮合成相关酶StAR、P450 scc、3β-HSDⅠmRNA相对表达(StAR:0.74±0.29、0.83±0.32、1.35±0.50;P450 scc:0.72±0.36、1.02±0.30、1.41±0.37;3β-HSDⅠ:0.58±0.14、0.72±0.07、0.85±0.18)与自然衰老模型组(StAR:0.44±0.09;P450 scc:0.33±0.05;3β-HSDⅠ:0.34±0.02)比较均提高,其中高剂量组StAR,中、高剂量组P450 scc、3β-HSDⅠ的表达与自然衰老模型组比较差异有显著性(P<0.05)。结论:改善睾丸组织衰老的病理状态,提高睾酮合成酶表达可能是补肾方调节自然衰老大鼠睾酮水平的作用机制。     

HCG、FSH联合治疗低促性腺激素性性腺功能减退症29例报告

目的 探讨人绒毛膜促性腺激素(HCG)和促卵泡激素(FSH)联合治疗男性低促性腺激素性性腺功能减退症的有效性和安全性.方法 29例男性低促性腺激素性性腺功能减退症23例,Kallmann综合征6例.治疗方案:采用联合HCG 2000 IU,2次/周;FSH 75 IU,3次/周,肌肉注射,连续用药至少3个月. 结果治疗后所有患者体力改善,体质增强;22例患者出现胡须、阴毛和(或)腋毛.睾丸体积治疗前(2.68±1.44)ml,治疗后(8.93±3.24)ml(P<0.01);促卵泡激素(FSH)、促黄体激素(LH)和睾酮(T)水平有所提高(P<0.05);12例患者出现遗精现象,8例有精子生成.结论 对男性低促性腺激素性性腺功能减退症,用HCG和FSH治疗能促进青春期第二性征发育,并可使部分睾丸恢复产生雄激素和生成精子功能.     

Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants

Although some genes that cause Kallmann syndrome (KS) have been identified by traditional linkage analysis and candidate gene techniques, the syndrome's molecular etiology in the majority of patients remains poorly understood. In this paper, we present the clinical assessments of a consanguineous Han Chinese family with three KS descendants. To understand the molecular etiology of KS from a genome-wide perspective, we investigated the genome-wide profile of structural variation in this family using the Affymetrix Genome-Wide Human SNP Array 6.0 platform. The results revealed that the three affected individuals had common copy number variants (microdeletions) on chromosomes 1p21.1, 2q32.2, 8q21.13, 14q21.2 and Xp22.31. Moreover, the copy number variants on Xp22.31 were located in the intron of KAL1, which causes X-linked KS. Two PCR assays were performed on these regions to validate the results obtained using the chips. In addition, genomic microdeletions in this region were verified in one of 29 Han Chinese sporadic KS cases and one of four other family cases, but not in 26 Han Chinese sporadic normosmic idiopathic hypogonadotropic hypogonadism cases and 100 unrelated Han Chinese normal controls. Our results provide a novel insight into the relative contributions of certain copy number variants to KS's molecular etiology and generate a list of interesting candidate regions for further studies.     

Varicocele is associated with hypogonadism and impaired erectile function: a prospective comparative study

We conducted this prospective comparative study to examine the hypothesis that varicocele was associated with hypogonadism and impaired erectile function as reflected in International Index of Erectile Function‐5 (IIEF‐5) scores as well as nocturnal penile tumescence and rigidity (NPTR) parameters. From December 2014 to December 2015, a total of 130 males with varicocele complaining of infertility or scrotal discomfort and 130 age‐matched healthy males chosen from volunteer healthy hospital staff as controls were recruited in this study. Serum testosterone (TT) levels and IIEF‐5 scores as well as NPTR parameters were evaluated and compared between varicocele and control subjects. All participants were further grouped into hypogonadism based on the cut‐off value 300 ng/dL. A total of 45 of 130 patients were identified as hypogonadism, while it was not found in control subjects. A multivariate logistic regression with likelihood ratio test revealed that TT levels as well as grade III and II varicocele posed significant indicators for hypogonadism occurrence (chi‐square of likelihood ratio = 12.40, df = 3, p < .01). Furthermore, TT levels and infertility duration were associated with IIEF‐5 scores in a multivariate linear regression analysis (adjusted R² = 0.545). In conclusion, the correlation of grade III and II varicocele with an increased risk of hypogonadism was confirmed in this study and an impaired erectile function correlated with TT levels and infertility duration was also observed.     

Sertoli cell types in the Sertoli-cell-only syndrome: relationships between Sertoli cell morphology and aetiology

Histological study of testicular biopsies from infertile men showing Sertoli-cell-only tubules due to hypogonadotropic hypogonadism, cryptorchidism, oestrogen treatment, chemotherapy or Del Castillo's syndrome, revealed four types of Sertoli cells: (1) normal adult mature cells showing an indented nucleus, grossly triangular in shape with a prominent tripartite nucleolus; (2) immature cells with round regularly outlined nuclei and immature cytoplasm; (3) dysgenetic cells showing immature nuclei and a nearly mature cytoplasm with less developed cytoplasmic organelles; and (4) involuting cells with very irregularly outlined nuclei and a mature cytoplasm containing abundant lipid droplets and residual bodies and atypical inter-Sertoli junctional specializations. Testes from men with hypogonadotropic hypogonadism showed only immature Sertoli cells; cryptorchid testes showed dysgenetic cells and occasional normal cells; and after treatment with oestrogens or chemotherapy the testes showed involuting cells and normal cells. The testes of men with Del Castillo's syndrome could be classified into three groups, according to the Sertoli cell type present: mature, dysgenetic and involuting cells. This finding suggests that Del Castillo's syndrome may be due to at least three different aetiologies.