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771.
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split‐Hand/Foot Malformation: Implications for the Promoter Region 下载免费PDF全文
772.
Deficiency of the sphingosine‐1‐phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications 下载免费PDF全文
Andreas R. Janecke Elisabeth Steichen‐Gersdorf Siegfried Waldegger Andreas Entenmann Thomas Giner Iris Krainer Lukas A Huber Michael W Hess Yaacov Frishberg Hila Barash Shay Tzur Nira Schreyer‐Shafir Rivka Sukenik–Halevy Tania Zehavi Cungui Mao Thomas Müller 《Human mutation》2017,38(4):365-372
We identified two unrelated consanguineous families with three children affected by the rare association of congenital nephrotic syndrome (CNS) diagnosed in the first days of life, of hypogonadism, and of prenatally detected adrenal calcifications, associated with congenital adrenal insufficiency in one case. Using exome sequencing and targeted Sanger sequencing, two homozygous truncating mutations, c.1513C>T (p.Arg505*) and c.934delC (p.Leu312Phefs*30), were identified in SGPL1‐encoding sphingosine‐1‐phosphate (S1P) lyase 1. SGPL1 catalyzes the irreversible degradation of endogenous and dietary S1P, the final step of sphingolipid catabolism, and of other phosphorylated long‐chain bases. S1P is an intracellular and extracellular signaling molecule involved in angiogenesis, vascular maturation, and immunity. The levels of SGPL1 substrates, S1P, and sphingosine were markedly increased in the patients’ blood and fibroblasts, as determined by liquid chromatography–tandem mass spectrometry. Vascular alterations were present in a patient's renal biopsy, in line with changes seen in Sgpl1 knockout mice that are compatible with a developmental defect in vascular maturation. In conclusion, loss of SGPL1 function is associated with CNS, adrenal calcifications, and hypogonadism. 相似文献
773.
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. 相似文献
774.
775.
Andropause or late-onset hypogondism (LOH) is a situation where a middle-aged or older man has low serum testosterone (T) in conjunction with diffuse symptoms reminiscent of those of genuine male hypogonadism (e.g. reduced sexual function, loss of vigor, muscle weakness, depression). Opinions about the diagnostic criteria, prevalence and treatment options of andropause vary considerably amongst experts. We review here some salient findings on the prevalence, diagnostic criteria and impact on health of andropause, obtained from the European Male Ageing Study (EMAS), a multicenter study of ageing among community-dwelling middle-aged and older men. 相似文献
776.
《Paediatrics & Child Health》2014,24(3):124-130
Delayed puberty is common, occurring in 3% of the population. It is seen much more frequently in boys than girls and in the majority of cases is due to constitutional delay in growth and puberty. These individuals do not need significant numbers of investigations and treatment is usually unnecessary. Regular monitoring is indicated to ensure puberty does progress in due course, with reassurance for the child and family that this is a common occurrence. A short course of low dose testosterone or oestrogen may be beneficial in inducing puberty if this is significantly delayed as this can be psychologically difficult. Puberty will usually then proceed spontaneously to completion.All girls with pubertal delay require karyotyping to exclude Turner syndrome. More detailed investigation would be indicated in individuals with any additional features such as: a history of pituitary hormone deficiencies, previous radiotherapy or chemotherapy, evidence of chronic disease, midline or dysmorphic features, learning difficulties, tall stature, gynaecomastia or anosmia, neonatal history of bilateral crypto-orchidism or small penis.For those patients requiring treatment, this involves commencement of low dose testosterone in boys or oestrogen in girls, with slowly increasing doses as puberty progresses. 相似文献
777.
Objectives. To summarize the clinical characteristics of partial 17α-hydroxylase/17,20-lyase deficiency (17OHD) in 46,XX Chinese patients.Methods. Five cases of 46,XX partial 17OHD from Peking Union Medical College Hospital were studied retrospectively by summarizing and analyzing their clinical data. The molecular pathogenic mechanisms involved are discussed after reviewing the literature.Results. Both complete and partial 17OHD patients have hypergonadotropic hypogonadism and elevated serum levels of adrenocorticotropic hormone and mineralocorticoids. The clinical characteristics of partial 17OHD are different from those of complete 17OHD; patients with the former having various degrees of estrogenic and androgenic impacts such as the development of breasts and pubic hair, and oligomenorrhea or secondary amenorrhea. Elevated serum progesterone with or without elevated serum 17α-hydroxyprogesterone and recurrent ovarian cysts are typical manifestations of partial 17OHD. Furthermore, hypokalemic hypertension may be absent in partial 17OHD. The 46,XX partial 17OHD should be differentiated from pure gonadal dysgenesis, premature ovarian failure and polycystic ovarian syndrome. It has been reported that specific mutations of the CYP17 gene can cause partial loss of 17α-hydroxylase/17,20-lyase activities or dissociation between the 17α-hydroxylase and the 17,20-lyase functions. Oral contraceptive pills are effective for artificial menstruation, but not for the correction of hormone deficiency. A low dose of cortisol should be prescribed in the presence of hypokalemic hypertension.Conclusion. The congenital partial 17OHD should be included in the differential diagnosis of menstrual disorders. In these cases, elevated progesterone offers a valuable clue for further investigation. 相似文献
778.
目的 探讨雄蚕益肾方对迟发性性腺功能低下症(late-onset hypogonadism,LOH)大鼠睾丸组织病理变化和超微结构的影响.方法 采用"退役种鼠(40周龄)+复合情志刺激+孤养"方法,建立LOH大鼠模型,随机分为模型组、睾酮组、雄蚕益肾方组(雄蚕组),另设立正常对照组(8周龄),药物干预4周,末次给药后24 h处死动物,检测血清睾酮水平、睾丸指数,分别以光学显微镜和透射电子显微镜观察睾丸组织的病理变化与超微结构.结果 模型组、睾酮组、雄蚕组之间睾丸指数比较,差异均无统计学意义(P>0.05),LOH大鼠睾丸组织出现曲细精管结构紊乱,精子大量减少,睾丸间质变少等病理变化以及线粒体数量明显减少,大量线粒体水肿等超微结构改变,雄蚕组病理变化和超微结构均得到改善.结论 LOH大鼠可出现睾丸组织器官水平和细胞水平的病理变化及超微结构改变,雄蚕益肾方可能能通过改善其病理变化和睾丸间质细胞超微结构而发挥作用. 相似文献
779.
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation
Patrizia Fiorio Lucia Rosaia De Santis Cristina Cuoco Giorgio Gimelli Roberto Gastaldi Fabrizia Bonatti 《Gynecological endocrinology》2016,32(1):14-17
We report on a 31-year old female who presented at genetic counseling for a small uterus, secondary amenorrhea and sterility. Gonadotropic hormone levels were low, suggesting a Hypogonadotropic Hypogonadism (HH) condition. Cytogenetic analysis demonstrated the presence of Trisomy X associated to an interstitial deletion of chromosome 4q13.2, resulting in the complete loss of a copy of the GNRHR gene. As GNRHR is known to be responsible for an autosomal recessive form of HH, we checked the status of the undeleted allele and we found the Q106R substitution. In conclusion, the results of our cytogenetic and molecular analyses have allowed us to clarify the etiology of the patient's condition. 相似文献
780.
Aydogan Aydogdu 《Expert opinion on emerging drugs》2016,21(3):255-266
Introduction: Male hypogonadism is characterized by inadequate production of Testosterone (T) (hypoandrogenism) and deficiencies in spermatogenesis. The main treatment of male hypogonadism is T replacement therapy (TRT), but for some of the patients, alternative drugs may be more suitable.Areas covered: The available literature of T and alternative treatments for male hypogonadism are discussed.Expert opinion: Transdermal application of T gels are the most commonly used route of T administration. Some oral T formulations are either associated with hepatic toxicity (i.e. methyltestosterone) or short half-lives that require multiple doses per day (i.e. oral testosterone undecanoate). Short acting, injectable T formulations are also available. If the patient prefers not to use daily drugs or short acting injectable formulations, depot formulations such as injectable testosterone undecanoate (TU) may be a good alternative. If the patient has hypogonadotropic hypogonadism and desires fertility or if he is adolescent, instead of TRT, gonadotropins can be started to stimulate testicular growth and spermatogenesis. In obese patients or for the patients having high risks for TRT, off label aromatase inhibitors (AI) and clomiphene citrate (CC), may be considered to stimulate LH, FSH and T levels. In patients with high prostate disease risk, selective androgen receptor modulators may be an alternative treatment but these latter treatments have not had high level evidence. 相似文献