男性特发性低促性腺激素性性功能减退症

男性特发性低促性腺激素性性功能减退症是由于基因异常引起下丘脑分泌促性腺激素释放激素（GnRH）功能障碍导致睾丸功能低下的遗传性疾病，主要临床表现为第二性征发育不全，性功能低下和不育。诊断主要根据临床表现和血卵泡刺激素、黄体生成素和睾酮水平均明显降低，且除外体质性青春发育延迟和后天获得性低促性腺激素性性腺功能减退症。目前尚无根治措施，仅限于替代治疗。雄激素替代治疗可以促进第二性征的发育和维持性功能，使用促性腺激素或GnRH脉冲治疗可诱导精子生成，使部分患者实现生育愿望。早期诊断和恰当的治疗策略是治疗成功的关键。     

单一性低促性腺激素型性腺功能减退症的分子遗传学

促性腺激素低下和性腺发育障碍伴或不伴嗅觉异常是单一性低促性腺激素型性腺功能减退症(IHH)的主要临床特征.近些年,随着基因组学和分子生物学的发展,发现了一些导致下丘脑-垂体-性腺轴功能减退新的基因缺陷,如GnRH、GnRHR、GPR54、PROK2、PROKR2、TAC和TACR基因等,影响下丘脑促性腺激素释放激素(GnRH)的合成、分泌和作用.这些基因缺陷的发现有助于进一步了解GnRH分泌的调节机制和阐明IHH的发生机制.     

男性Grave''s病患者垂体促性腺激素和性激素分泌的变化

目的　探讨高甲状腺激素对男性垂体促性腺激素和性激素分泌的影响。方法　对15例初诊男性Grave’s病患者分别在治疗前和治疗后 8～ 13个月进行促性腺激素释放激素(GnRH)兴奋试验 ,观察垂体促性腺激素黄体生成素 (LH)、卵泡刺激素 (FSH )和泌乳素 (PRL)和性激素 [睾酮 (T)和雌二醇 (E2 ) ]水平及对GnRH刺激的反应 ,计算曲线下面积 ,同时测定性激素结合球蛋白 (SHBG)水平 ,并以 9名正常人作为对照组 ,进行比较。结果　Grave’s病患者LH和FSH水平显著高于对照组 (P <0 .0 5或P <0 .0 1) ,对GnRH刺激反应也增强 ;T和SHBG升高 ,PRL和E2无明显变化 ,E2 /T则明显低于对照组水平 (P <0 .0 5 )。甲状腺激素和T与SHBG呈显著正相关 (P<0 .0 1)。经过治疗 ,甲状腺功能恢复正常后上述异常指标均恢复至正常水平。结论　高甲状腺激素时垂体促性腺激素细胞分泌和储备功能增强 ,而这种改变是可逆的。     

老年垂体前叶功能减退症患者促性腺激素水平及垂体兴奋能力的检测

目的探讨老年垂体前叶功能减退症患者促性腺激素水平的改变。方法选取垂体前叶功能减退症老年患者120例,进行常规血清垂体激素水平、垂体激素兴奋度实验,并对上述观察指标进行统计学分析。结果 83例老年患者出现促肾上腺皮质激素(ACTH)分泌不足的症状,79例出现促甲状腺激素分泌不足症状,46例出现促性腺激素分泌不足症状,部分老年患者出其他症状,如头痛(21例)、视力下降(14例)、尿崩症(5例)等症状。老年患者垂体相关的激素分泌水平大部分较正常值范围低,其中促性腺激素(Gn),黄体生成素LH,催乳素(PRL),生长激素(GH)降低老年患者比例与正常值比较具有显著性差异(P0.05)。促性腺激素释放激素(GnRH)兴奋试验、促甲状腺激素释放激素(VEP)兴奋、促肾上腺皮质激素释放激素(CEP)兴奋试验的激素上升延迟平均比例与正常值比较具有显著差异(P0.05)。结论采用垂体激素水平及垂体兴奋能力测试作为垂体功能水平检测,尤其是Gn水平含量,以期取得良好的预防和治疗效果。     

单一性低促性腺激素型性腺功能减退症的分子遗传学

促性腺激素低下和性腺发育障碍伴或不伴嗅觉异常是单一性低促性腺激素型性腺功能减退症(IHH)的主要临床特征.近些年,随着基因组学和分子生物学的发展,发现了一些导致下丘脑-垂体-性腺轴功能减退新的基因缺陷,如GnRH、GnRHR、GPR54、PROK2、PROKR2、TAC和TACR基因等,影响下丘脑促性腺激素释放激素(G...     

Kisspeptin/GPR54与特发性低促性腺激素性性腺功能减退症

特发性低促性腺激素性性腺功能减退症(IHH)主要表现为促性腺激素水平低下和性成熟障碍.迄今,对IHH的病因和发病机制了解甚少.近年来,在部分IHH家系中发现了G蛋白耦联受体54(GPR54)基因突变,进一步研究提示GPR54及其配体kisspeptin参与促性腺激素释放激素(GnRH)的分泌调节.Kisspeptin可以直接促进下丘脑GnRH分泌、介导性激素对GnRH的反馈调节,以及参与青春期肩动等.因此认为,Kisspeptin/GPR54的基因突变是导致IHH的病因之一,同时kisspeptin/GPR54对下丘脑-垂体-性腺轴的正常功能起到重要参与作用.     

特发性低促性腺激素性性腺功能减退症诊治专家共识解读

特发性低促性腺激素性性腺功能减退症( 简称IHH),是下丘脑促性腺激素释放激素(GnRH) 分泌或作用障碍 导致的一种疾病,以青春不发育和配子生成障碍为主要临床表现。性激素替代治疗可促进第二性征发育。当患者 有生育需求时,促性腺激素或GnRH 泵治疗,有助于配子产生。2015 年中华内分泌学分会性腺学组专家,针对此病 制定了专家共识。文章针对共识中存在的一些争议问题进行探讨,这些问题包括疾病命名、基因诊断、儿童IHH 的 识别和治疗、生精治疗中的问题等,旨在增加内分泌医生对此疾病的认识,提高诊治水平。     

三例成年发生的特发性低促性腺激素性性腺功能减退症的诊疗特点分析

目的探讨成年发生的特发性低促性腺激素性性腺功能减退症(AIHH)的诊疗特点并提供诊疗思路。方法收集就诊于南方医科大学南方医院内分泌代谢科的3例男性AIHH患者的临床、实验室、影像学及完整随访资料。结果 3例患者均为男性, 平均年龄39(22～40)岁, 2例以"乳房增大, 性功能下降"为主诉入院, 1例以"性功能下降"为主诉入院。体格检查:阴茎长度6(5～6)cm, 双侧睾丸体积7.96(4.70～8.82)mL;基础性激素水平:睾酮0.32(0.24～2.96)ng/mL、卵泡刺激素0.56(0.1～0.75)mIU/mL、黄体生成素0.69(0.1～1.03)mIU/mL;垂体前叶分泌的其他激素水平未见异常;下丘脑-垂体区域磁共振成像(MRI)提示其中1例患者存在垂体微腺瘤。3例患者选择促性腺激素释放激素(GnRH)脉冲泵或促性腺激素序贯治疗, 1例患者在使用GnRH脉冲泵治疗后下丘脑-垂体-性腺(HPG)轴功能逆转并持续1年, 但随后仍不可逆性降低。结论 AIHH同时具有成年起病及特发性低促性腺激素的特点, 生育力改善仍是此类患者的重要需求, GnRH脉冲泵或促性腺激素治疗对AI...     

特发性低促性腺激素性性腺功能减退症合并1型糖尿病一例

本文中报道一例因“糖尿病酮症酸中毒”就诊的26岁男性患者,查体发现患者消瘦,外生殖器未发育。实验室检查显示糖化血红蛋白10.7%,C肽0.38 ng/ml。谷氨酸脱羧酶抗体阳性。促卵泡激素、促黄体生成素、睾酮均低于正常。骨龄14岁。染色体核型分析为46,XY。诊断为特发性低促性腺激素性性腺功能减退症(IHH)合并1型糖尿病。基因检测示成纤维细胞生长因子受体1错义杂合突变。IHH合并1型糖尿病非常少见,发生机制不明,基因检测结果相关性有待进一步研究。     

女性特发性低促性腺激素性性腺功能减退症的临床研究——附16例病例回顾

回顾性分析本院2004年至2011年12月收治的16例女性特发性低促性腺激素性性腺功能减退症(nIHH)患者的临床资料及随访记录.16例患者均具有正常女性染色体核型,粗测嗅觉正常;无第二性征发育,促性腺激素及性腺激素水平显著低于正常,100μg GnRH兴奋试验提示11例LH峰值低于正常水平(11/15),GnRH延长兴奋试验提示垂体性腺激素储备功能尚可(6/6);双腕和双膝关节正位X线片提示骨骺愈合延迟(9/9).垂体MRI提示1例右侧嗅球、嗅束缺失(1/16);妇科超声提示1例无子宫及附件,余15例幼稚型子宫.1例有严重骨质疏松.1例诊断垂体柄中断症.激素替代治疗随诊6例,最长随诊5年,子宫及附件发育及乳房发育均改善.由于治疗开始时间,患者依从性诸多因素,nIHH治疗效果差异较大.对于育龄期患者,停止激素替代治疗后无病程逆转.     

胰岛素瘤的解剖分布特点分析

目的胰岛素瘤是最常见的胰腺神经内分泌肿瘤，因其临床表现多样，导致诊断困难。影像学诊断尤其是超声内镜(EUS)在胰岛素瘤的诊断中起着重要作用，拥有较高的敏感性和特异性。本研究拟通过明确胰岛素瘤的解剖分布特点，以期有助于提高影像学的诊断准确率和降低漏诊率，尤其是在教育和培训实践中对于EUS的学习者更具有指导价值。 方法回顾性分析解放军总医院第一医学中心病案资料数据库1993年1月至2019年11月经外科手术、病理确诊为胰岛素瘤的患者的临床资料，检索方法采取搜索术后病理诊断为"胰岛素瘤"的病例，通过查阅病例的方法，提取出胰岛素瘤的大小和解剖分布等数据，进一步分析其特点。 结果共检索到确诊为胰岛素瘤的患者116例，其中，男45例、女71例，年龄13～76岁，平均年龄(44.4±14.85)岁。胰岛素瘤单发110例(94.8%)、多发6例(5.2%)。位置分布：头颈部46例(39.7%)，单发45例、多发1例；体尾部68例(58.6%)，单发65例、多发3例；全胰腺多发2例(1.7%)。病变大小特点：最大径0.4～3.4 cm，平均大小(1.53±0.58)cm。≤1 cm 29例、>1 cm而≤1.5 cm41例、>1.5 cm而≤2.0 cm28例，≤3 cm 15例，>3 cm 3例。年龄与肿瘤的大小相关，≤44岁患者肿瘤平均大小为(1.36±0.51)cm、>44岁患者肿瘤平均大小为(1.70±0.60)cm，P<0.05。头颈部的肿瘤大于体尾部的肿瘤，头颈部肿瘤平均大小(1.66±0.63)cm，体尾部(1.42±0.52)cm，P<0.05。 结论胰岛素瘤在胰腺体尾部较头颈部更好发；绝大多数单发，但可以全胰腺多发；多数小于1.5 cm，肿瘤的大小与患者年龄和肿瘤的解剖分布相关。     

Pathogenesis of carcinoma of the papilla of Vater

Most adenomas and carcinomas of the small intestine and extrahepatic bile ducts arise in the region of the papilla of Vater. In familial adenomatous polyposis (FAP) it is the main location for carcinomas after proctocolectomy. In many cases symptoms due to stenosis lead to diagnosis at an early tumor stage. In about 80%, curative intended resection is possible. Operability is the most relevant prognostic factor. Most ampullary carcinomas resp. carcinomas of the papilla of Vater develop from adenomatous or flat dysplastic precursor lesions. They can be sited in the ampulloduodenal part of the papilla of Vater, which is lined by intestinal mucosa. They also can develop in deeper parts of the ampulla, which are lined by pancreaticobiliary duct mucosa. Intestinal-type adenocarcinoma and pancreaticobiliary-type adenocarcinoma represent the main histological types of ampullary carcinoma. Furthermore, there exist unusual types and undifferentiated carcinomas. Many carcinomas of intestinal type express the immunohistochemical marker profile of intestinal mucosa (keratin 7?, keratin 20+, MUC2+). Carcinomas of pancreaticobiliary type usually show the immunohistochemical profile of pancreaticobiliary duct mucosa (keratin 7+, keratin 20?, MUC2?). Even poorly differentiated carcinomas, as well as unusual histological types, may conserve the marker profile of the mucosa they developed from. These findings underline the concept of histogenetically different carcinomas of the papilla of Vater which develop either from intestinal- or from pancreaticobiliary-type mucosa of the papilla of Vater. Molecular alterations in ampullary carcinomas are similar to those of colorectal as well as pancreatic carcinomas, although they appear at different frequencies. In future studies, molecular alterations in ampullary carcinomas should be correlated closely with the different histologic tumor types. Consequently, the histologic classification should reflect the histogenesis of ampullary tumors from the two different types of papillary mucosa.     

Demonstration of the mechanism of action of biguanides

Summary Palmitic acid oxidation in rat diaphragm homogenate is depressed by biguanide concentrations that are still incapable of inhibiting oxidative phosphorylation. Glucose oxidation is not directly effected by the same biguanide concentrations: however, the inhibitory effect of palmitic acid on glucose oxidation is partly removed by biguanides. Inhibition of fatty acid oxidation, which accounts for most of the metabolic effects caused by these drugs, can be regarded as the fundamental mechanism of action of biguanides. There is some evidence suggesting that these drugs might interact with carnitine, thus preventing long-chain fatty acids from being transported across the mitochondrial membrane to the site of oxidation. Traduzione a cura degli AA.     

Lack of correlation of degree of villous atrophy with severity of clinical presentation of coeliac disease

BACKGROUND AND AIM: Both the clinical presentation and the degree of mucosal damage in coeliac disease vary greatly. In view of conflicting information as to whether the mode of presentation correlates with the degree of villous atrophy, we reviewed a large cohort of patients with coeliac disease. PATIENTS AND METHODS: We correlated mode of presentation (classical, diarrhoea predominant or atypical/silent) with histology of duodenal biopsies and examined their trends over time. RESULTS: The cohort consisted of 499 adults, mean age 44.1 years, 68% females. The majority had silent coeliac disease (56%) and total villous atrophy (65%). There was no correlation of mode of presentation with the degree of villous atrophy (p=0.25). Sixty-eight percent of females and 58% of males had a severe villous atrophy (p=0.052). There was a significant trend over time for a greater proportion of patients presenting as atypical/silent coeliac disease and having partial villous atrophy, though the majority still had total villous atrophy. CONCLUSIONS: Among our patients the degree of villous atrophy in duodenal biopsies did not correlate with the mode of presentation, indicating that factors other than the degree of villous atrophy must account for diarrhoea in coeliac disease.     

血吸虫童虫生长发育及其机制的研究进展

血吸虫童虫是宿主免疫系统攻击的重要靶标,包括皮肤型、肺型和肝门型童虫。宿主分子对童虫生长发育具有重要作用。童虫生长发育机制包括免疫调节、信号转导、性别发育及凋亡等。肌动蛋白、组织蛋白酶、烯醇化酶和葡萄糖基转移酶等分子为血吸虫童虫生长发育的重要分子。本文对血吸虫童虫生长发育及其机制的研究进展做一综述。     

氯硝柳胺悬浮剂的毒性评价

目的评价氯硝柳胺悬浮剂的毒性，为现场大规模应用灭螺提供依据。方法按照中华人民共和国国家标准GB 15670-1995《农药登记毒理学试验方法》和鱼类毒性试验方法进行。结果经口、经皮肤的LDso雌、雄性大鼠均>5 000 mg/kg，经呼吸道的LCso雌、雄性大鼠均>5 000mg/m3，该药经口、经皮肤、经呼吸道毒性均属微毒类药物；兔眼用药后，观察期内无不良反应，对眼无刺激性；皮肤用药后对皮肤无刺激性。与氯硝柳胺原药、氯硝柳胺乙醇胺盐原药和氯硝柳胺乙醇胺盐可湿性粉剂相比，氯硝柳胺悬浮剂对鱼急性毒性最低。结论氯硝柳胺悬浮剂属微毒类药物，对鱼的毒性低于其乙醇胺盐可湿性粉剂，适合于现场应用。     

124例耐多药结核分枝杆菌基因突变特征分析

目的对临床分离的耐多药结核分枝杆菌相关基因的突变特征进行分析。方法对124例耐多药结核分枝杆菌以及50株敏感株的耐药相关基因(包括异烟肼inh A、kat G、oxyR-ahp C间隔区以及利福平rpo B)进行序列测定,分析其基因突变情况。结果异烟肼耐药inh A基因突变率为14.5%;kat G基因突变率为70.2%(87/124),主要位于315位;oxyR-ahp C间隔区突变率为15.3%;inh A、kat G两种基因同时突变率75.0%,三种基因同时突变率为89.5%。利福平rpo B基因突变的检出率高达95.2%,突变主要发生在531、526、516位点。结论我省耐多药菌异烟肼耐药相关基因最常见突变为kat G 315、inh A C-T(-15)、axyR-ahp C间隔区(-10)C-T,利福平为rpo B531、526、516。结合MDR-TB耐药相关基因的特征分析,可以建立一种快速、准确、特异的适合于我省的检测结核菌耐多药性的新方法。     

Assessment of quality of life of parents of children with juvenile chronic arthritis

The aim of the study was to assess the quality of life (QOL) and the psychological status of parents of children with juvenile chronic arthritis (JCA). The QOL, anxiety and depression of the parents of 28 children with JCA were evaluated and compared to those of the parents of 28 healthy children. Mothers of JCA children and mothers of healthy children reported similar QOL. The reported anxiety and depression levels were similar for mothers and fathers in both groups. The parents of children with pauciarticular-type JCA reported lower QOL and higher levels of anxiety and depression than the parents of children with other types, namely polyarticular and systemic JCA. These findings may be explained by the fact that the pauciarticular patients had shorter disease duration and were less frequently seen in the outpatient clinic. The QOL of mothers of children with JCA was found to be slightly impaired in the group of children with pauciarticular JCA. Future larger studies are needed to confirm these results, as the number of subjects in the three groups was rather low. Received: 26 September 2001 / Accepted: 8 February 2002     

Numerical Simulation of the Effect of Rate of Change of Glucose on Measurement Error of Continuous Glucose Monitors

Background

A 5-day in-patient study designed to assess the accuracy of the FreeStyle Navigator® Continuous Glucose Monitoring System revealed that the level of accuracy of the continuous sensor measurements was dependent on the rate of glucose change. When the absolute rate of change was less than 1 mg•dl⁻¹•min⁻¹ (75% of the time), the median absolute relative difference (ARD) was 8.5%, with 85% of all points falling within the A zone of the Clarke error grid. When the absolute rate of change was greater than 2 mg•dl⁻¹•min⁻¹ (8% of the time), the median ARD was 17.5%, with 59% of all points falling within the Clarke A zone.

Method

Numerical simulations were performed to investigate effects of the rate of change of glucose on sensor measurement error. This approach enabled physiologically relevant distributions of glucose values to be reordered to explore the effect of different glucose rate-of-change distributions on apparent sensor accuracy.

Results

The physiological lag between blood and interstitial fluid glucose levels is sufficient to account for the observed difference in sensor accuracy between periods of stable glucose and periods of rapidly changing glucose.

Conclusions

The role of physiological lag on the apparent decrease in sensor accuracy at high glucose rates of change has implications for clinical study design, regulatory review of continuous glucose sensors, and development of performance standards for this new technology. This work demonstrates the difficulty in comparing accuracy measures between different clinical studies and highlights the need for studies to include both relevant glucose distributions and relevant glucose rate-of-change distributions.     

Angiographic diagnosis of the degree of serosal invasion of carcinoma of the colon

Angiography using Prostaglandin El^® was performed on 38 patients with carcinoma of the colon in order to diagnose the degree of serosal cancer invasion. The findings at angiography were classified into four groups:1) AG-S3, abnormal change (irregularity and/or encasement) up to marginal vessels; 2) AG-S2, abnormality up to vasa recta; 3) AG-S1, abnormality of penetrating branches of vasa recta within the wall of the colon; and 4) AG-S0, no distinct findings of abovementioned vessels. These angiographic findings were compared with both macroscopic and microscopic serosal cancer invasion. Angiographic diagnosis is in accord with the macroscopic findings in 84.2 percent of cases. Angiographic diagnosis is in accord with the microscopic findings in 32.4 percent of cases. Macroscopic findings confirm the angiographic diagnosis precisely but the conflict with microscopic findings should not be overlooked. This may be the result of inflammatory change, adhesion, and fibrosis around carcinoma of the colon.