Turner综合征的生长激素治疗(综述)

Turner综合征(以下简称TS)又名先天性卵巢发育不全征。其主要特征为生长障碍、性幼稚、蹼颈、肘外翻等,体细胞染色体核型特征为45,X,亦可呈各种嵌合型。近来发现TS的生长障碍与生长激素有一定的关系。 影响TS身高增长的诸因素 TS的生长不良可能与抗生长激素(GH)和生长激素分泌不足及紊乱有关,呈进行性生长不良表现。不论是45,X/46,XX或45,X,95～100％存在生长衰竭。造成矮小的基因在X染色体短臂,其生长延     

Turner综合征32例

目的探讨Turner综合征（TS）患儿染色体核型异常与发育异常、卵巢发育不全、性激素及促性腺激素、生长激素、甲状腺激素异常及矮小和骨龄落后的关系。方法对32例TS患儿进行染色体核型分析,20例患儿行GH药物激发试验,甲状腺激素、性激素和促性腺激素的测定;并进行临床特征分析,生长发育指标评价,子宫、卵巢彩超影像学等检查。同期选择30例健康体检女童（健康对照组）行血清性激素及促性腺激素检测。结果染色体核型各异,典型染色体核型为45,XO,亦可呈各种嵌合型,患儿表现为身材矮小和躯体畸形。彩超检查3例无子宫和（或）卵巢声像,余29例子宫纵径、前后径及横径与健康对照组比较有显著性差异（Pa〈0.01）。与健康对照组比较,TS组血清雌二醇水平显著降低、促性腺激素水平显著升高（Pa〈0.01）。骨龄落后（2.7±1.2）岁,身高标准差积分为（-3.7±1.4）分。结论TS患儿临床表现与染色体核型有关。身材矮小和骨龄落后可能与SHOX基因缺失、雌激素缺乏、生长激素缺乏及甲状腺功能低下有关。X染色体异常可致患儿卵巢发育不全,且其性激素水平异常。     

Turner综合征临床表现的遗传学基础研究进展

Turner综合征(Turner syndrome,TS)是最常见的染色体病之一,发病率在活产女婴中约为1∶2500。事实证明,99%的45,X胚胎在妊娠早期都自然流产,只有1%能存活[1]。患者临床表现个体差异大,有严重表型的患者生存质量低、预后不良。研究显示,患者个体化表现与核型、基因型等相关,了解其遗传学基础对遗传咨询、个体化治疗、判断预后有重要意义,本文就近年TS在该领域研究进展作一综述。1核型、基因型与表型的联系TS典型表现有身材矮小、性腺发育不全,伴先天或后天多系统异常,如心血管或肾脏先天畸形、耳聋、高血压、甲状腺疾病、骨质疏松症及肥…     

青少年Turner综合征患者心理行为问题研究进展

Turner综合征（TS）又称先天性卵巢发育不全,在活产新生女婴中发病率约为1／2130,它是由于部分或全部X染色体缺失造成的,大部分核型为45XO,其余为嵌合型或X染色体的不同结构异常。典型的临床表现是身材矮小和性腺发育不全,最终身高从142～146．8em不等,因其身高受双亲身高的影响而各不相同;由于性腺发育不全,会导致闭经,青春期发育延迟,不孕不育旧。[第一段]     

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Turner综合征(TS)又称先天性卵巢发育不全,是由于全部或部分体细胞中1条X染色体完全或部分缺失所致。1930年由Ullrich首先报告。1938年Turner对7例具有女性表型,但有原发性闭经,性发育不良,有颈蹼、肘外翻和身材矮小等体征的患者做了详细的临床描述,故该病又称为Ullrich-Turner综合征。1954年,Polani证明本病大多数患者X染色质为阴性。1959年,Ford证实患者的核型为45,X。TS是第一个被描述的性染色体异常,经过多年的病例总结与核型分析,人们发现TS的遗传学十分复杂,其诊断、治疗和遗传咨询仍存在诸多问题。1Turner综合征的临床表现TS…     

Turner综合征的卵巢功能评估和激素替代治疗

特纳综合征（TS）通常有高促性腺激素性性腺功能减退症、 原发性或继发性闭经。因此， 大多数TS患者需要激素替代疗法（HRT）来诱导青春期， 维持第二性征发育，使子宫正常生长， 并获得峰值骨量。激素替代的目的是模拟正常的身心发育。诱导青春期发育的最佳激素替代治疗方案仍在不断的优化和改进。治疗应从11～12岁开始， 在2～3年内每6个月增加一次剂量。低剂量的雌激素启动青春期对于保护生长潜力至关重要。该文重点介绍了在TS年轻患者中的性激素替代疗法， 期望为临床医生提供实际帮助。     

重组人生长激素对Turner综合征患儿身高的疗效

目的 探讨重组人生长激素(rhGH)对Turner综合征(TS)患者身高的疗效,分析影响其治疗效果的因素.方法 2004年1月-2007年6月四川大学华西第二医院儿科门诊12例TS患儿.年龄4.9～16.9(11.28±3.64)岁.均进行染色体核型分析确诊.常规行肝肾功能、血常规和头颅磁共振检查均正常.所有患儿尚未接受过生长激素或雌激素治疗.患儿有不同的临床表现,患儿均身材矮小,肘外翻9例,盾状胸8例,发际低4例,颈蹼2例,乳房未发育11例,无腋毛、阴毛11例,均无初潮,均无智力落后和其他畸形.rhGH为每日睡前皮下注射,注射部位为脐周3～5 cm的环形区域.rhGH治疗平均剂量0.16 IU/(kg·d)[0.15～0.18 IU/(ks·d)],计算和比较治疗前后TS患儿身高标准差积分(HtSDS),观察有无rhGH不良反应发生.结果 持续治疗时间12个月9例,15个月2例,18个月1例.12例患者治疗前身高(122.77±15.98)cm,治疗后身高(129.92 4±14.59)cm,身高增长速度(0.55 4±0.15)cm/月,治疗前HtSDS为(-2.99 4±1.13),治疗后为(-2.36 4±0.76),治疗前后HtSDS比较有显著统计学意义(t=2.87 P<0.05).3例出现一过性头痛,8例出现一过性膝关节疼痛.结论 rhGH对TS患者有明显的促生长作用,可提高患者的生活质量.     

特纳综合征患儿心血管疾病研究进展

特纳综合征(Turner syndrome, TS)是一种由女性第二条性染色体全部或部分缺失导致的疾病, 每10万例新生女婴中约有20～50例TS患儿。大约一半的TS 患者存在先天性或获得性心血管疾病。其中, 先天性心脏畸形在TS患者中的发病率约为25%～50%;主动脉扩张在成人TS患者中较为常见, 是主动脉夹层的重要危险因素。另外, TS患者比一般女性更容易出现心律失常。在儿童和青少年TS患者中, 高血压的患病率较高, 应用24 h动态血压监测有利于TS患者高血压的诊断。因此, 积极的健康教育、正确的随访、及时的干预至关重要。     

Turner综合征的生长激素水平

目的：探讨Turner综合征的生长激素水平和人生长激素治疗效果．方法对不同核型的Turner综合征患者19例进行生长激素激发试验，并对部分对象7例用人生长激素治疗。结果生长激素完全缺乏者9例，部分缺乏者8例，正常2例。接受人生长激素治疗7例，治疗前年增长速率均≤2cm，治疗后较前有所增长，效果最好者7个月增长5．6cm。结论Turner综合征的矮小与生长激素水平有一定的关系，用人生长激素治疗能使之改善。     

垂体性生长激素缺乏症104例的睾丸发育

目的了解男性垂体性生长激素缺乏症的睾丸发育及生长激素对睾丸的影响。方法检测104例生长激素缺乏症者的睾丸发育情况及部分患者的垂体促性腺激素功能，30例用生长激素治疗，最长疗程＜1a。结果睾丸明显偏小，部分伴促性腺激素储备或分泌不足，GH治疗前后睾丸体积无变化。结论男性生长激素缺乏症大多数伴性腺发育不良，短期GH治疗对患者的性腺发育无改善。     

Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETA®

There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. Cetirizine has several antiallergic properties that suggest a potential effect on the development of airway inflammation and asthma in infants with atopic dermatitis. Methods. Over a two year period, 817 infants aged one to two years who suffered from atopic dermatitis and with a history of atopic disease in a parent or sibling were included in the ETAC^® (Early Treatment of the Atopic Child) trial, a multi-country, double-blind, randomised, placebo-controlled trial. The infants were treated for 18 months with either cetirizine (0.25mg/ kg b.i.d.) or placebo. The number of infants who developed asthma was compared between the two groups. Clinical and biological assessments including analysis of total and specific IgE antibodies were performed. Results. In the placebo group, the relative risk (RR) for developing asthma was elevated in patients with a raised level of total IgE (≥ 30 kU/I) or specific IgE (≥ 0.35 kUA/I) for grass pollen, house dust mite or cat dander (RR between 1.4 and 1.7). Compared to placebo, cetirizine significantly reduced the incidence of asthma for patients sensitised to grass pollen (RR = 0.5) or to house dust mite (RR = 0.6). However, in the population that included all infants with normal and elevated total or specific IgE (intention-to-treat - ITT), there was no difference between the numbers of infants developing asthma while receiving cetirizine or placebo. The adverse events profile was similar in the two treatment groups. Discussion. Raised total IgE level and raised specific IgE levels to grass pollen, house dust mite or cat dander were predictive of subsequent asthma. Cetirizine halved the number of patients developing asthma in the subgroups sensitised to grass pollen or house dust mite (i.e. 20% of the study population). In view of the proven safety of the drug, we propose this treatment as a primary pharmacological intervention strategy to prevent the development of asthma in specifically sensitised infants with atopic dermatitis.     

Resurgence of measles in Singapore: profile of hospital cases

OBJECTIVE: To ascertain the profile of cases of measles seen at a general hospital during a recent outbreak that occurred despite a measles vaccination program. METHODOLOGY: A retrospective study from January 1991 to March 1998. All patients with measles (ICD code 055. 9) seen at the emergency unit or as inpatients were included. RESULTS: There were 87 cases identified. The diagnosis was clinical in all and proven serologically in 71%. Eighty-five per cent of the cases occurred between January 1997 and March 1998. There was a bi-modal age distribution with peaks in the very young (相似文献   

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孤独症谱系障碍(autistic-spectrum disorders,ASDs)近年来患病率逐年攀升至1%左右,其症状往往伴随终生,成为严重威胁儿童健康和发展的神经发育性疾患;注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)是儿童期最常见的精神障碍,国内报道患病率为4.13%～5.83%,其症状可延续至青少年期,甚至到成年期[1]。这两类精神障碍在成年期的临床表现、共患病、治疗策略和预后与儿童期有哪些不同呢?本文通过回顾相     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes.     

Infiltrations of Epstein-Barr virus-carrying cells in granular lymphocyte-proliferative disorders corresponding to chronic active Epstein-Barr virus infection

A 21-year-old man with granular lymphocyte-proliferative disorders (GLPD) associated with chronic active Epstein-Barr virus (EBV) infection is described. Chromosomal analyses revealed several clonal abnormalities and two of them were mainly repetitious. High copy numbers of monoclonal EBV genome were also detected in the proliferative large granular lymphocytes (LGLs), indicating the monoclonal expansion of EBV-infected LGLs. The patient had an indolent course for several years, and there was no evidence of infiltrations of his bone marrow until the end stage. At autopsy, microscopic studies revealed marked infiltrations of LGL in the liver and spleen, and the infiltrating cells were NK-cell immunophenotype. The infiltrated LGLs showed latency I.     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea.     

A profile of respiratory symptoms in urban and rural South Australian school children

This report describes the cross-sectional analyses of data from the first year of a longitudinal study using questionnaire and respiratory function data over a 5 year period from a sample of rural South Australian school children. The cumulative or lifetime prevalences of respiratory symptoms were estimated in 825 rural and 1261 urban school children aged between 5 and 15 years in order to determine if the prevalence rates differed between rural and urban school children. The study found the overall cumulative prevalence of asthma and/or wheezy breathing (AWB) to be 24.1% in the rural school children compared to 27.6% in the urban school children. Most children developed AWB symptoms before the age of 7 years, with 20% reporting moderately severe symptoms and 10% having more than one attack per fortnight. The cumulative prevalence of bronchitis, loose/rattly cough (BLRC) differed significantly between the rural school children (34.1%) and urban school children (47.9%). The BLRC symptoms preceded the development of AWB in many cases. Urban school children also reported a higher prevalence of atopic conditions.     

Personality profiles and heart rate variability (vagal tone) in children with recurrent abdominal pain

The aim of the study was to explore psychological factors and autonomic activity in children with recurrent abdominal pain and to compare them with those in a control group of healthy children. The Personality Inventory for Children was used for assessment of developmental, emotional and psychosocial factors in 25 children with recurrent abdominal pain (age, 7-15 y). Parasympathetic and sympathetic functions in these children and in 23 healthy control subjects (age, 7-13 y) were also investigated, non-invasively using a computerized polygraph. Vagal tone (parasympathetic function) was indexed by calculation of respiratory sinus arrhythmia in beats/min. Skin conductance (sympathetic function) was recorded by the constant current method. On the Personality Inventory for Children, 16 patients had high scores on somatic concern. Several patients had scores in the clinical range for depression, withdrawal and anxiety, but the mean scores for these personality profile scales were well within the normal range of healthy children. Interestingly, there was a spike on the L (Lie)-scale for most of the patients and 15 patients had scores above or close to the clinical cut-off value. As compared with the scores in healthy children, vagal tone and sympathetic tone were normal. Conclusion: Many children with recurrent abdominal pain have scores in the clinical range for depression, withdrawal, anxiety and L-scale indicating coping problems, denial and a trend towards somatic concern that may contribute to the evolution of abdominal pain. Autonomic nerve activity was not disturbed in these children.     

Hauttemperaturen verschiedener Körperoberflächenareale des Rumpfes bei Säuglingen

Summary In two groups of infants (3–53 weeks old) skin temperatures were controlled in different areas of the trunk—i.e.: regions of sternum, lungs, heart, liver, spleen, kidneys—at different room-temperatures (group I: 21–25°C; group II: 29–32°C). Rectal temperatures of some probands in both groups also had been controlled simultaneously. A definite change in the reaction to heat was proofed in different periods of the first year of life. In higher environmental temperatures the skin temperature was almost constant at every controll-point of the skin, even in older infants. In lower environmental temperatures the skin temperatures lowered continuously with age till 7. to 9. moth. From 10. to 12. month the lowering of skin temperature discontinued. The rectal temperatures were relatively constant in all infants. Only in infants from 7. to 12. month, whose skin temperatures were controlled in lower as well as in higher environmental temperatures, a tendency to higher rectal temperatures was proofed in warmer environmental temperatures.The significance of these results is discussed.

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Untersuchungen mit Unterstützung durch die Deutsche Forschungsgemeinschaft.