Asymptomatic Paget's disease of bone in a 62-year-old Nigerian man: three years post-alendronate therapy [0.03%]
尼日利亚62岁男性无症状Paget病骨病的三年后：伊班 Dowd治疗后的效果
Clement Olukayode Aransiola,Arinola Ipadeola
Clement Olukayode Aransiola
Paget's disease is a chronic and progressive disorder of bone characterized by focal areas of excessive osteoclastic resorption accompanied by a secondary increase in the osteoblastic activity. Paget's disease of bone (PBD) is a rare endocr...
Kharis Burns,Darshika Christie-David,Jenny E Gunton
Kharis Burns
Ketoconazole was a first-line agent for suppressing steroidogenesis in Cushing's disease. It now has limited availability. Fluconazole, another azole antifungal, is an alternative, although its in vivo efficacy is unclear. A 61-year-old fem...
Somatic RET mutation in a patient with pigmented adrenal pheochromocytoma [0.03%]
一例色素性嗜铬细胞瘤患者的RET体细胞性突变
Nicole Maison,Esther Korpershoek,Graeme Eisenhofer et al.
Nicole Maison et al.
Pheochromocytomas (PCC) and paraganglioma (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the neural crest. Mutations in the RET-proto-oncogene are associated with sporadic pheochromocytoma, familial or sporadic medull...
Jeremy M W Kirk,Nalin Wickramasuriya,Nicholas J Shaw
Jeremy M W Kirk
Estrogen is used to induce puberty in peripubertal girls with hypogonadism. Although both synthetic and natural forms are available, along with different routes of administration, in the UK oral ethinyl estradiol and the low-dose oral contr...
Successful fertility treatment with gonadotrophin therapy for male hypogonadotrophic hypogonadism [0.03%]
促性腺激素治疗男性下丘脑性性腺功能减退症致成功生育
J Rajkanna,S Tariq,S O Oyibo
J Rajkanna
Gonadotrophin therapy with human chorionic gonadotrophin and recombinant FSH is indicated for use in men with reduced spermatogenesis due to hypogonadotrophic hypogonadism (HH). Patients require regular monitoring for side effects and desir...
Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene [0.03%]
由SCNN1B基因新突变引起的假性低醛固酮症1型
Yael R Nobel,Maya B Lodish,Margarita Raygada et al.
Yael R Nobel et al.
Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) is a rare disorder characterized by sodium wasting, failure to thrive, hyperkalemia, hypovolemia and metabolic acidosis. It is due to mutations in the amiloride-sensitive epithelial ...
Follicular thyroid carcinoma with NRAS Q61K and GNAS R201H mutations that had a good (131)I treatment response [0.03%]
具有NRAS Q61K和GNAS R201H突变且对碘-131治疗反应良好的滤泡状甲状腺癌病例报告
Jin-Ying Lu,Po-Ju Hung,Pei-Lung Chen et al.
Jin-Ying Lu et al.
We report a case of follicular thyroid carcinoma with concomitant NRAS p.Q61K and GNAS p.R201H mutations, which manifested as a 13.5 cm thyroid mass with lung, humerus and T9 spine metastases, and exhibited good response to radioactive iodi...
Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects [0.03%]
睾酮替代治疗49，XXXXY综合征：男性学，代谢和神经学方面的问题
Rossella Mazzilli,Michele Delfino,Jlenia Elia et al.
Rossella Mazzilli et al.
We report the case of a 19-year-old boy, presenting several congenital malformations (facial dysmorphisms, cardiac and musculoskeletal abnormalities), mental retardation, recurrent respiratory infections during growth and delayed puberty. A...
A novel surgical approach for the management of giant invasive prolactinoma compressing the brainstem [0.03%]
一种新的手术方法治疗垂体巨大泌乳素瘤伴脑干受压病症
Niki Margari,Jonathan Pollock,Nemanja Stojanovic
Niki Margari
Prolactinomas constitute the largest subsection of all secretory pituitary adenomas. Most are microprolactinomas and are satisfactorily treated by medical management alone. Giant prolactinomas, measuring more than 4 cm in diameter, are rare...
Heterogeneity of glucagonomas due to differential processing of proglucagon-derived peptides [0.03%]
因前胰高血糖素多肽的加工差异导致的胰高血糖素瘤异质性
Benjamin G Challis,Nicolai J Wewer Albrechtsen,Vishakha Bansiya et al.
Benjamin G Challis et al.
Pancreatic neuroendocrine tumours (pNETs) secreting proglucagon are associated with phenotypic heterogeneity. Here, we describe two patients with pNETs and varied clinical phenotypes due to differential processing and secretion of proglucag...