Delayed diagnosis of STAT1 gain-of-function variant in a patient with multiple endocrine autoimmunity and recurrent fungal infections [0.03%]
STAT1基因功能获得性变异型所致自身免疫多内分泌病和复发性真菌感染的延迟诊断
Sydney Sparanese,Rae Brager,David Fahmy et al.
Sydney Sparanese et al.
Summary: This case report describes a 54-year-old woman with multiple endocrine autoimmune pathologies and recurrent mucocutaneous Candida spp. infections that were inappropriately attributed to her glycemic control. Foll...
Severe hypertriglyceridaemia with length-related small fibre sensory neuropathy as a complication of previous gestational diabetes mellitus [0.03%]
既往妊娠糖尿病的并发症严重高甘油三酯血症伴长度相关的小纤维感觉神经病
Fatima Iqbal,Daniel Lim,Ruby Chang et al.
Fatima Iqbal et al.
Summary: Gestational diabetes mellitus (GDM) is a known risk factor for dyslipidaemias. Insulin resistance and the associated dyslipidaemia, particularly hypertriglyceridaemia, have been less frequently linked to peripher...
A case of hypopituitarism with pancytopenia cured by corticosteroid and thyroid hormone replacement therapy [0.03%]
糖皮质激素及甲状腺激素替代治疗一例全血细胞减少的垂体功能减退症患者治愈报告
Violeta Mladenovic,Radica Zivkovic Zaric,Snezana Sretenovic et al.
Violeta Mladenovic et al.
Summary: Pancytopenia associated with hypopituitarism has been reported in the literature as a rare occurrence limited to isolated case reports, predominantly associated with Sheehan syndrome. We present the case of a 31-...
High-risk pregnancy complicated by craniopharyngioma: diagnosis in the context of visual impairment and tumor resection during pregnancy following IVF [0.03%]
辅助生育后妊娠合并颅咽管瘤一例：视力减退发现诊断和孕期肿瘤切除的挑战性病例
Yuki Tsujimoto,Kenji Yamashiro,Yui Watanabe et al.
Yuki Tsujimoto et al.
Summary: This report describes the case of a 37-year-old woman diagnosed with a craniopharyngioma during pregnancy. The patient initially presented with visual impairment at 15 weeks of gestation, and MRI revealed a cysti...
Maxim John Levy Barnett,Sarah Eidbo,Ana Rivadeneira
Maxim John Levy Barnett
Summary: Levothyroxine is the backbone of hypothyroidism treatment. The dosage of levothyroxine varies; however, as an estimate, an average adult patient will require 1.6 micrograms per kilogram of body weight. We present...
Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism [0.03%]
在可卡因唑酯治疗反应型一过性高胰岛素血症家系中鉴定ABCC8变异型
Ryan L Smith,Stephen I Stone
Ryan L Smith
Summary: Congenital hyperinsulinism is a rare disorder characterized by hypoglycemia and inappropriately elevated insulin levels. The genetics of congenital hyperinsulinism is complex, with the most common cause being pat...
From genotype to phenotype: the impact of early management in pycnodysostosis [0.03%]
从基因型到表型：pycnodysostosis早期管理的影响
Paulo Rafael Gonçalves da Silva Von Zuben,Sophia Zuppo de Sousa,Carolina Costa Figueiredo et al.
Paulo Rafael Gonçalves da Silva Von Zuben et al.
Summary: Pycnodysostosis (PYCD) is an osteosclerotic skeletal dysplasia caused by mutations in the CTSK gene. We describe four cases, highlighting their clinical progression and therapeutic responses. Case 1 is a 2-year-o...
Effects of lanreotide autogel immediately after a single injection for thyrotropin-producing pituitary tumor [0.03%]
长效兰瑞肽治疗垂体促甲状腺激素型垂体瘤的疗效分析
Mayuko Sumitomo,Arina Miyoshi,Shuhei Baba et al.
Mayuko Sumitomo et al.
Summary: We present the case of a 51-year-old man who was referred to our hospital due to abnormal thyroid function tests. Laboratory evaluations showed elevated serum free (F) T3 and free (F) T4 levels (9.05 pg/mL and 4....
Development of Graves' disease in a patient with lymphocytic hypophysitis following glucocorticoid treatment [0.03%]
接受糖皮质激素治疗的淋巴细胞性垂体炎患者的Graves病发病病例报告
Yuka Ono,Norio Wada,Shuhei Baba et al.
Yuka Ono et al.
Summary: We report the case of a 41-year-old Japanese woman with visual field disturbances during late pregnancy. At 39 weeks of gestation, she was diagnosed with bitemporal hemianopsia at the ophthalmology department. An...
A hypoglycaemic 'Peter Pan': a paediatric disease in an adult patient? [0.03%]
低血糖的"彼得潘"综合征：儿科疾病在成人患者中的表现？
Shannon McCarthy,Mark Kotowicz
Shannon McCarthy
Summary: A 56-year-old male presented to hospital with vomiting and was admitted for management of suspected aspiration pneumonia. His medical history was significant for a diagnosis of cerebral palsy and intellectual dis...