生长激素治疗垂体性侏儒症的疗效观察

本文对17例垂体性侏儒症病儿进行了国产基因重组人生长激素(γ-hGH)疗效观察,治疗前平均年身高增长1.95±1.06cm/a(厘米/年),治疗6个月平均年身高增长11.43±1.62cm/a,经t检验,t=7.02P＜0.01,说明了国产的γ-hGH也有良好的促生长作用,而且治疗前后骨龄增长不明显,治疗前骨龄为4.77±3.4岁,治疗6个月骨龄为5.3±3.3(t=0.081,P＞0.05),全部病儿治疗后食量,体力,睡眠改善,除1例出现注射部位疼痛,1例出现周身水肿外,无异常临床症状,实验室检查仅ALP较用药前有所提高,用药前ALP值为1189.88±9.43,用药后1个月ALP值为150.58±19.79,虽然与用药前比较有所提高,但是经检验(t=1.80,P＞0.05)无显著性差异,经补充VitD和钙剂ALP恢复正常.结果表明国产γ-hGH具有疗效确实,无副作用的优点.     

生长激素释放激素和胰高血糖素对成人及生长激素缺乏患者生长激素分泌的影响

本文报告正常成人和成年生长激素缺乏(GHD)患者血清生长激素(GH)对GH释放激素(GHRH)和胰高血糖素(G1u)的反应。肌注G1u后血糖失升高后降低,血糖下降是兴奋GH分泌的因素。联合注射G1u/GHRH后的血清GH峰值部GH反应曲线下面积等于单独注射G1u和GHRH的和。二例对GHRH有GH分泌反应的GHD患者,对单独注射G1u无GH分泌反应。他们的GH分泌对联合注射G1u/GHRH与单独注射GHRH的反应相同。作者认为注射G1u引起的血糖下降可能是通过抑制下丘脑释放生长抑素从而引起GH的分泌。     

6例Noonan综合征患者临床特点及重组人生长激素治疗效果分析

目的 本研究将总结6例Noonan综合征(NS)患者的临床特点、基因诊断结果及对重组人生长激素(rh GH)治疗的反应。方法 回顾性总结2009年5月至2015年8月在北京协和医院内分泌科矮小门诊的6例NS患者的临床特点。5例以0.1 IU/(kg·d)为起始剂量应用rh GH,进行定期随访,并与年龄/性别相匹配的同期应用rh GH的10例特纳综合征(TS)和10例生长激素缺乏症(GHD)患者进行比较。结果 6例患者均存在NS的典型临床表现;5例经rh GH治疗后,年生长速度显著增加(P0.01);NS与TS患者rh GH疗效相似,随访各点均无显著性差异;但GHD患者相比,在应用rh GH后疗效欠佳;不良事件:2例NS在随访期出现亚临床甲状腺功能减低。结论 NS患者具有典型的临床表现,基因检查有助于明确诊断,rh GH治疗有显著疗效及较高的安全性。     

激素替代治疗如何取舍

在人的生命得以大大延长的今天,女性中年后由于绝经而带来的心理上的变化日益受到重视。生命是一个整体,整个生命都应该是美丽的,女性不应因年龄和生理上的变化减弱对生活质量的追求。激素替代治疗作为绝经之后的种补充雌激素的手段,其利弊兼而有之。关于这个问题,中外专家有不同的见解。     

一例 POU1F1基因变异导致的联合垂体激素缺乏患儿临床和遗传学分析

目的对1例联合垂体激素缺乏患儿POU1F1基因进行变异分析, 明确其遗传学病因。方法分析1例以反复低血糖就诊的联合垂体激素缺乏患儿的临床资料及基因检测结果。结果患儿临床表现为2月龄起反复发作的低血糖、严重的纳差便秘、严重的生长发育迟缓, 并且存在生长激素、促甲状腺激素和泌乳素3种垂体激素缺乏。高通量测序检测显示患儿POU1F1基因存在c.767-769del (p. Glu256del)杂合变异。结论 POU1F1基因变异是患儿的致病原因。低血糖在POU1F1基因缺陷病例中很少见, 对于合并多种垂体激素缺乏的患儿, 应进行基因检测明确病因。     

垂体前叶与生长激素（GH）放射免疫分析的临床应用

脑垂体(Pituitarg　Gland)结构复杂,功能重要。所分泌的激素种类多,作用广泛,具有调节许多内分泌腺的活动,亦是机体神经体液调节的重要环节。根据脑垂体的功能,将其分为垂体前叶和后叶。 垂体前叶对机体生长、发育、代谢、生殖及其他内分泌腺的调节等具有多种作用。 目前,从垂体前叶已分离出生长激素(GrouthHormone,GH)、促甲状腺激素(TSH)、促肾上腺皮质激素(ACTH)、促卵泡刺激素(FSH)、促黄体生成素(LH)和生乳素(PRL)等6种激素。1912年Aschner报道切除垂体的动物不能生长得到证实。在高灵敏度的放射免疫分析方法(RIA)问世之前,尚未解决检     

加强垂体激素标记免疫分析在垂体瘤诊断中的应用

垂体瘤是常见的颅内肿瘤,其发病率仅次于胶质瘤和脑膜瘤。起源于腺垂体的垂体腺瘤（pituitary ade-noma）是最常见的垂体瘤。垂体瘤绝大多数为良性肿瘤,约占成人颅内肿瘤的10%。其中分泌性垂体瘤占绝大多数,约占80%。而分泌性垂体瘤中以催乳素瘤（prolactinoma,PRL瘤）最多,约占50%～55%;其次为生长激素瘤（growth hormone secreting tumor,GH瘤）,     

垂体前叶生殖激素地促排卵治疗中超早孕诊断的意义

受精及其嗣后的胚泡植入是生殖生育中的关键环节 ,深入了解其过程对不孕症的治疗和实施计划生育等都有重要的理论和实践意义 ,然迄今仍缺乏明确的方法对其进行判断以作出超早孕诊断 ,目前临床上应用的放射免疫分析法测定人绒毛膜促性腺激素 - β亚单位 (β -ＨＣＧ)诊断早孕 ,最早尚需待至受精后十天方可确定孕卵的存在。我们通过动态观察临床诊断为排卵障碍性不孕症妇女药物促排卵治疗前后垂体前叶生殖激素水平 ,发现血清泌乳素 (ｐｒｏｌａｃｔｉｎ ,ＰＲＬ)可作为了解排卵后卵子受精与否的参考指标 ,并可为超早孕的实验室诊断提供一条途…     

垂体脓肿致鼻源性头痛4例临床分析

目的:探讨以头痛为主诉症状的垂体脓肿的临床诊断和经蝶窦显微手术治疗效果.方法:临床表现为头痛4例,尿崩症3例,垂体功能低下4例,视力视野障碍2例.手术中彻底清除脓肿、放入碘仿纱条引流.结果:经蝶窦显微手术证实为垂体脓肿4例.术后随访3个月~3a,影像学检查脓肿征象均消失.4例头痛、2例视神经功能障碍术后缓解;3例尿崩症、4例垂体功能低下改善.结论:若鞍区病变不大、但引起较严重的蝶鞍骨质破坏,表现为头痛、尿崩症和垂体功能低下时,应考虑垂体脓肿可能,并及时手术探查.彻底消除脓肿和术后使用敏感抗生素是治疗垂体脓肿的关键.     

激素替代治疗周期402例冻融胚胎移植的回顾性分析

目的回顾性分析激素替代治疗（hormone replacement therapy, HRT）周期冻融胚胎移植（frozen - thawed embryo transfer, FET）的妊娠结局并探讨其影响因素。方法回顾性分析2011年1月～2012年1月中山大学附属第一医院生殖中心接受激素替代治疗周期冻融胚胎移植的不孕患者的妊娠结局和其相关因素。结果研究期间366个患者行402个HRT周期冻融胚胎移植,临床妊娠率为41．5％,年龄≤35岁患者妊娠率为43．4％;〉35岁患者妊娠率为27．7％。多胎率为29．9％,种植率为22．4％,其中D3天胚胎种植率为19．7％,囊胚种植率为37．7％。接受单个胚胎移植的患者,D3天胚胎种植率为9．1％,囊胚种植率为53．3％。结论激素替代周期冻融胚胎移植能获得满意种植率,影响其临床妊娠率因素包括女方年龄、ET日雌激素水平,以及ET胚胎数目、类型和质量。     

Partial trisomy 1q with growth hormone deficiency and normal intelligence

We present two sibs with partial trisomy 1 (q31.1–q32.1) due to a familial insertion. Patient 1 is a girl who presented at age 9 months with minor anomalies, short stature, and normal psychomotor development. Karyotype was 46,XX,der(4)ins(4;1) (p14;q31.1q32.1)pat. The father had a balanced inverted insertion of 1q into 4p, with karyotype 46,XY,ins(4;1)(p14;q31.1q32.1). At age 5 years, patient 1 was found to have short stature with documented growth hormone deficiency and ectopic pituitary. Her growth velocity responded well to treatment with growth hormone. Cognitive testing at 5 9/12 years showed normal intelligence with an IQ of 90. Patient 2, the brother of patient 1, presented with intrauterine growth retardation. He has the same chromosomal insertion as his sister, with partial trisomy 1q. We suggest that there is a recognizable phenotype of trisomy 1(q31.1-q32.1) which includes prenatal and postnatal growth retardation, narrow palpebral fissures, microphthalmia, microstomia, pituitary abnormalities, and normal intelligence in some individuals. Am. J. Med. Genet. 77:257–260, 1998. © 1998 Wiley-Liss, Inc.     

Syndrome of hypoparathyroidism,growth hormone deficiency,and multiple minor anomalies

A 5 1/2-year-old Saudi Arabian girl presented with a syndrome of intrauterine growth retardation, minor anomalies, hypoparathyroidism, and growth hormone deficiency. She was the product of a consanguineous mating. Her minor anomalies and delayed development were similar to findings in a previously reported Saudi Arabian patients with hypoparathyroidism and growth deficiency. There were substantial differences in findings from a series of Kuwaiti children. Parathyroid hormone was undetectable, but the renal response to infused parathyroid hormone was normal, indicating primary hypoparathyroidism. In response to arginine stimulation, her GH rose to 5.8 ng/ml (5.8 μg/L) (nl > 10), and to 2.3 ng/ml (2.3 μg/L) after L-dopa. Following clonidine it rose to 15 ng/ml (15 μg/L) at 120 minutes. She responded normally to infusions of GHRH (GH rose to 22 ng/ml (22 μg/L) at 75 minutes) and TRH (TSH rose to 37 μu/ml, 37 mlU/L). On treatment with recombinant human growth hormone, she showed an increase in height and weight. Hypocalcemia was well controlled with supplemental 1-α-cholecalciferol. © 1994 Wiley-Liss, Inc.     

Growth hormone deficiency and growth hormone therapy in Ullrich-Turner-Syndrome

Summary In a girl with Ullrich-Turner-Syndrome (gonadal dysgenesis 45, XO) and growth hormone deficiency, 10 U of human growth hormone/m² body surface area/week increased the growth rate from 2.0 to 4.1 cm/year. Doses of up to 36 U/m²/week did not improve the growth rate in 4 girls with Ullrich-Turner-Syndrome who had normal plasma growth hormone concentration and incretion. We conclude that growth hormone therapy is unsuccessful in dwarfism in Ullrich-Turner-Syndrome and should be reserved for patients with proven growth hormone deficiency.Supported by Deutsche Forschungsgemeinschaft, SFB 51/C10     

Familial isolated growth hormone deficiency

A family is reported with isolated growth hormone deficiency in two children, their mother and, presumably, also in two maternal uncles and their maternal grandmother. Autosomal dominant inheritance is the best explanation. Isolated growth hormone deficiency is apparently a heterogeneous condition, including autosomal dominant, autosomal recessive as well as non-genetic diseases.     

Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia

Abstract

Background: Ataxia telangiectasia (A-T) is a devastating human recessive disorder characterised by progressive cerebellar ataxia, immunodeficiency, genetic instability, and cancer susceptibility. In addition, many patients suffer from growth failure. Methods: We analyzed growth and IGF-1/BP3 levels of 24 A-T-patients compared with an age-matched group of healthy controls (n?=?36). Results: Ten (41.7%) A-T patients and none of healthy controls had an IGF-1 level below the 3rd percentile for age. The growth hormone (GH) stimulation tests revealed a severe GH deficiency with no increase of >5?ng/ml in six of the ten A-T patients. The IGF-1 generation tests revealed normal increases in IGF-1 values in all patients. Conclusion: Our results show that a disturbance in the GH/IGF-1 axis was present in 58.3% of A-T patients. Low levels of GH were the result of reduced central GH secretion. GH treatment may be a therapeutic option for A-T patients with severe growth failure.     

Familial growth hormone deficiency associated with MRI abnormalities

Idiopathic growth hormone deficiency is, in most cases, a sporadic condition. In a number of these patients magnetic resonance imaging (MRI) demonstrates a small anterior pituitary, small or absent pituitary stalk, and ectopically located posterior pituitary. These findings have been attributed to a developmental defect, trauma, or ischemia at birth. We report on a case of familial isolated growth hormone deficiency with mother and son demonstrating the MRI findings described above. The son also had a Chiari type I malformation and medial deviation of the carotid arteries secondary to a narrow skull base. Testing failed to identify a mutation in either the Pit-1 gene or GH gene cluster. This case appears to be an autosomal dominant defect in early development, lending support to the hypothesis that dysgenesis, rather than birth trauma, may cause a small anterior pituitary and ectopic posterior pituitary. Am. J. Med. Genet. 80:128–132, 1998. © 1998 Wiley-Liss, Inc.     

The 3C syndrome: Evolution of the phenotype and growth hormone deficiency

The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinzel syndrome) is a recently delineated condition involving abnormalities of the cranium (large head with prominent forehead), cerebellum (Dandy-Walker cyst and vermis hypoplasia), and cardiac (primarily septal) defects. At least 20 individuals with this condition have been reported in the past 11 years. We report on a girl with the 3C syndrome who at 13 years of age is the oldest patient reported to date. She has been followed since birth, allowing us to show the evolution of her phenotype over time. In addition, she has documented growth hormone deficiency. We suggest that growth hormone deficiency should be considered as a possible cause of the short stature often seen in this condition. Am. J. Med. Genet. 87:61–64, 1999. © 1999 Wiley-Liss, Inc.