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排序方式: 共有810条查询结果,搜索用时 15 毫秒
781.
José de Oliveira Vilar Neto Carlos Alberto da Silva Carlos Antônio Bruno da Silva Daniel V. Pinto Juan de Sá Roriz Caminha Robson S. de Matos Júlio C. C. Nunes Filho Felipe R. Alves Saulo C. Magalhães Elizabeth De Francesco Daher 《Andrologia》2021,53(7):e14062
The anabolic–androgenic steroids (AAS) are clinically used as an androgen replacement, in hypogonadism treatment, to induce puberty, and also in the treatment of chronic degenerative diseases. The AAS use out of clinical context is becoming massively, being used merely for aesthetic reasons. AAS abuse may cause severe disarrangement on the HPG axis and generate a significant decrease in testosterone synthesis and secretion by the testes. This review aims to evaluate whether the hypogonadism induced by AAS abuse is reversible and under what circumstances the reversibility is possible. For this, PRISMA guidelines and several databases are used between July and September 2020. Altogether, this systematic review identified and analysed 179 cases of AAS users. Of these, 168 cases had the hypogonadism clearly diagnosed and proven to be linked exclusively to AAS abuse. However, between these 168 cases, only 38 cases presented fully known outcomes and among these, merely in 4, the hypogonadism was completely reversible (2 based on drug therapy) with HPG axis recovery. In conclusion, this review presents evidences that AAS-induced hypogonadism is a seriously underestimated problem, and in the majority of cases, full recovery is very difficult to succeed. 相似文献
782.
Toshio Onishi M. D. Yoshiaki Okada M. D. Yuichi Kumahara M. D. 《Pediatrics international》1981,23(3):285-288
A survey study was done on the Prader-Willi syndrome in Japan during the 5-year period between 1975 and 1979. The total number of cases was 137 and detailed data were obtained on 61 cases. The patients had muscular hypotonia during infancy. After the age of 3 years, obesity developed and diabetes mellitus was often observed in the cases older than 9 years. As for minor anomalies, almond eyes were the most common, and next was a fish-shaped mouth. In some cases, hypogonadism was due to hypofunction of the testes, though in others it was due to a disorder of the hypothalamus. 相似文献
783.
Michael Zitzmann Julia Rohayem 《American journal of medical genetics. Part C, Seminars in medical genetics》2020,184(2):302-312
Klinefelter syndrome (KS) is the most frequent sex chromosomal aneuploidy. The karyotype 47,XXY originates from either paternal or maternal meiotic nondisjunction during gametogenesis. KS males are very likely to exhibit marked gonadal dysfunctions, presenting both in severely attenuated spermatogenesis as well as hypergonadotropic hypogonadism. In addition, neurocognitive and psychosocial impairments, as well as cardiovascular, metabolic and bone disorders are often found in KS and might explain for an increased morbidity/mortality. All conditions in KS are likely to be induced by both gene overdosage effects resulting from supernumerary X‐chromosomal genes as well as testosterone deficiency. Notwithstanding, the clinical features are highly variable between KS men. Symptoms can become obvious at infancy, childhood, or adolescence. However, the majority of KS subjects is diagnosed during adulthood. KS adolescents require specific attention regarding pubertal development, in order to exploit their remaining fertility potential and allow for timely and tailored testosterone replacement. The chances for sperm retrieval might decline with age and could be hampered by testosterone replacement; therefore, cryostorage of spermatozoa is an option during adolescence, before the decompensation of endocrine and exocrine testicular functions becomes more overt. Sperm from semen or surgically retrieved, in combination with intracytoplasmic sperm injection enables KS males to become biological fathers of healthy children. The aim of this article is to present the current knowledge on KS, to guide clinical care and to highlight research needs. 相似文献
784.
Ryan H. Peretz Wadih M. Zein Robert B. Hufnagel Christine Ku Rena Godfrey Lynne Wolfe David Adams William Gahl Camilo Toro 《American journal of medical genetics. Part A》2023,191(2):624-629
Boucher–Neuhäuser syndrome (BNHS) is characterized by chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar dysfunction and atrophy. The disorder has been associated with biallelic pathogenic variants in the patatin-like phospholipase domain-containing protein 6 (PNPLA6) gene. We present an individual with a clinical diagnosis consistent with BNHS who lacked any PNPLA6 variants but on quartet family exome sequencing had a de novo variant in the hexokinase 1 (HK1) gene (NM_000188.2 [GRCh37/hg19]: g.71139826G>A, c.1240G>A, p.Gly414Arg), suggesting genetic heterogeneity for BNHS. Longitudinal follow-up indicated neurological deterioration, neuropsychiatric symptoms, and progressive cerebellar atrophy. The BNHS phenotype overlaps and expands the known HK1 genotypic and phenotypic spectrum. Individuals with variants in HK1 should undergo evaluation for hypogonadotropic hypogonadism, potentially amenable to treatment. 相似文献
785.
Carlo Foresta Aldo E Calogero Francesco Lombardo Andrea Lenzi Alberto Ferlin 《Asian journal of andrology》2015,17(2):236-238
Late-onset hypogonadism is defined as a combination of low testosterone (T) levels and typical symptoms and signs. A major area of uncertainty is whether T concentrations are always really sufficient to fully reflect Leydig cell (dys)function. Mild testicular alteration could be diagnosed only by additional biochemical markers, such as luteinizing hormone (LH) and 25-hydroxyvitamin D levels. These markers help in identifying the so-called “subclinical” hypogonadism (normal T, high LH levels). Patients with hypogonadism have frequently low levels of 25-hydroxyvitamin D due to impairment of the hydroxylating enzyme CYP2R1 in the testis. However, no data have been published dealing with the best treatment option (cholecalciferol – the Vitamin D precursor, or calcidiol - 25-hydroxylated form of Vitamin D) in these patients. We studied 66 patients with classic hypogonadism (total T [TT] <12 nmol l−1, LH ≥ 8 IU l−1) (n = 26) and subclinical hypogonadism (TT ≥ 12 nmol l−1, LH ≥ 8 IU l−1) (n = 40) and low 25-hydroxyvitamin D (<50 nmol l−1). Subjects received cholecalciferol (5000 IU per week) (n = 20) or calcidiol (4000 IU per week) (n = 46), and 25-hydroxyvitamin D and parathyroid hormone (PTH) were evaluated after 3 months of therapy. Supplementation with calcidiol significantly increased 25-hydroxyvitamin D and significantly decreased PTH levels in both groups of men with hypogonadism (primary, n = 16 and subclinical, n = 30), whereas supplementation with cholecalciferol did not modify their levels. This study shows for the first time that the administration of the 25-hydroxylated form of Vitamin D (calcidiol), and not the administration of the precursor cholecalciferol, restores 25-hydroxyvitamin D levels in subjects with hypogonadism. 相似文献
786.
M. Naifar N. Rekik M. Messedi K. Chaabouni A. Lahiani M. Turki M. Abid F. Ayedi K. Jamoussi 《Andrologia》2015,47(5):579-586
The role of androgens in cardiovascular disease is still controversial in men. In this study, we investigated metabolic disorders in Tunisian hypogonadal men compared with healthy controls. Forty hypogonadal men and 80 control subjects were enrolled. Patients with a history of pre‐existing panhypopituitarism, thyroid dysfunction or inflammatory disease were excluded. Glycaemia, glycated haemoglobin (HbA1c), high‐sensitive C‐reactive protein (hsCRP), lipid profile, insulin, testosterone and gonadotrophins were measured. Insulin resistance was assessed by homoeostasis model assessment of insulin resistance (Homa IR). Waist circumference, body mass index and blood pressure were significantly higher in patients compared with controls. Glycemia, HbA1c, fasting serum insulin and Homa IR were significantly increased among hypogonadal men. In univariate analysis, testosterone levels were inversely correlated with body mass index, waist circumference, blood pressure, glycaemia, HbA1C, insulin, Homa IR and hsCRP. In multivariate analysis including all significant variables, initial testosterone level was the only independent risk factor for developing dyslipidaemia. With logistic regression, male hypogonadism was an independent risk factor for MS (P < 0.001). We conclude that low testosterone level plays a central role in the development of metabolic syndrome. Further prospective data are required to establish the causative link. 相似文献
787.
Elif ?zsu Rahime Gül Ye?iltepe Mutlu Olcay I??k Filiz Mine ?izmecio?lu ?ükrü Hatun 《Journal of clinical research in pediatric endocrinology》2014,6(4):266-268
IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neonatal period. Herein, we describe a patient with pronounced IUGR diagnosed with severe hyperpigmentation and adrenal insufficiency in the neonatal term in order to attract the attention to this rare entity. 相似文献
788.
目的 探讨伴高泌乳素血症的无功能腺瘤经鼻蝶手术的治疗疗效。方法 回顾性分析我科2015-2019年收治的伴有高泌乳素血症的临床无功能腺瘤患者共80例,泌乳素水平在25~200ng/ml之间,所有患者均接受经鼻蝶入路鞍区占位切除术并且术后病理排除PRL染色阳性的病例。分析患者的临床特征,手术方式,术后并发症,术前后高泌乳素血症及临床症状的缓解及其之间的相关性。结果 研究共纳入男性21例,女性59例,术前中位泌乳素水平51.11ng/ml(25.2-136.52ng/ml),中位肿瘤体积3.99cm3(0.23-37.11cm3),头痛为最常见的首发症状(37.5%),女性以性腺功能紊乱起病的患者多于男性(28.8% vs 9.5%,p=0.031),男性在就诊时更容易出现2条以上激素功能轴减退(47.6% vs 15.3%,p=0.031)。术后高泌乳素血症缓解65人(81.3%),高泌乳素血症的缓解与患者性别,年龄,肿瘤体积及手术切除程度无明显相关性,多因素分析显示仅术后第1天泌乳素水平可以预测3个月后的高泌乳素血症缓解(p=0.001)。术后患者视力视野改善率87.9%,头痛症状改善率93.9%,术前存在月经紊乱的绝经前女性中,14名(82.4%)术后恢复正常月经周期。结论 手术治疗是伴有高泌乳素血症的无功能腺瘤患者的可靠治疗选择。 相似文献
789.
Xiang Cai Ye Tian Tao Wu Chen-Xi Cao Hong Li Kun-Jie Wang 《Asian journal of andrology》2014,16(1):146-152
This systematic review was aimed at assessing the metabolic effects of testosterone replacement therapy (TRT) on hypogonadal men with type 2 diabetes mellitus (T2DM). A literature search was performed using the Cochrane Library, EMBASE and PubMed. Only randomized controlled trials (RCTs) were included in the meta-analysis. Two reviewers retrieved articles and evaluated the study quality using an appropriate scoring method. Outcomes including glucose metabolism, lipid parameters, body fat and blood pressure were pooled using a random effects model and tested for heterogeneity. We used the Cochrane Collaboration's Review Manager 5.2 software for statistical analysis. Five RCTs including 351 participants with a mean follow-up time of 6.5months were identified that strictly met our eligibility criteria. A meta-analysis of the extractable data showed that testosterone reduced fasting plasma glucose levels (mean difference (MD). -1.10; 95% confidence interval (CI) (-1.88, -0.31)), fasting serum insulin levels (MD: -2.73; 95% CI (-3.62, -1.84)), HbAlc % (MD.. -0.87; 95% CI (-1.32, -0.42)) and triglyceride levels (MD: -0.35; 95% CI (-0.62, -0.07)). The testosterone and control groups demonstrated no significant difference for other outcomes. In conclusion, we found that TRT can improve glycemic control and decrease triglyceride levels of hypogonadal men with T2DM. Considering the limited number of participants and the confounding factors in our systematic review; additional large, well-designed RCTs are needed to address the metabolic effects of TRT and its long-term influence on hypogonadal men with T2DM. 相似文献
790.
男性特发性低促性腺激素型性腺功能减退症87例临床分析 总被引:2,自引:0,他引:2
目的探讨男性特发性低促性腺激素型性腺功能减退症(idiopathic hypogonadotropic hypogonadism,IHH)临床特点。方法回顾性分析1985年5月至2006年2月解放军总医院收治的87例男性IHH患者临床资料。结果87例IHH患者就诊年龄平均(18.8±4)岁,其中25例伴有嗅觉减退或消失。87例染色体核型为46,XY。检测甲状腺、肾上腺功能正常,黄体生成素(LH)、卵泡刺激素(FSH)、睾酮(T)基础值低,促性腺激素释放激素[戈那瑞林(GnRH)或促黄体生成素释放激素(LHRH)]兴奋试验LH峰值较基础值升高。18例患者LH脉冲分泌呈现多种异常形式,86.2%(75/87)IHH患者骨龄落后于实际年龄,头颅CT或磁共振成像检查排除下丘脑-垂体区占位性器质性病变。结论根据性发育异常患者合并的各种先天异常、病史、体格检查、染色体核型分析、性激素水平、GnRH或LHRH兴奋试验,必要时行LH脉冲分析、骨龄测定、头颅CT或磁共振成像,可进行IHH的诊断与鉴别诊断。 相似文献