Bilateral pheochromocytoma as a late presentation of neurofibromatosis type 1 [0.03%]
神经纤维瘤病1型的晚期表现为双侧嗜铬细胞瘤
Helena Urbano Ferreira,Maria Luísa Sacramento,Juliana Gonçalves et al.
Helena Urbano Ferreira et al.
Summary: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition predisposing to tumors, including pheochromocytomas and paragangliomas. Reported penetrance is close to 100%, but clinical presentation is highly ...
Reversibly reduced lipoprotein lipase in APOA5 c.553G>T-related hypertriglyceridemia successfully treated with pemafibrate [0.03%]
APOA5 c.553G>T相关高甘油三酯血症的可逆性脂蛋白脂肪酶减少症用 pemafibrate 治疗成功案例
Shozo Miyauchi,Yuji Utsunomiya,Masashi Okamoto et al.
Shozo Miyauchi et al.
Summary: We report the case of a 47-year-old woman with severe hypertriglyceridemia due to a homozygous APOA5 c.553G>T (p.Gly185Cys) mutation. She presented with markedly elevated triglyceride levels (TG, 1,047 mg/dL) tha...
Progression of diabetic retinopathy during pregnancy in a woman with ABCC8-MODY [0.03%]
ABCC8基因突变糖尿病患者妊娠期间糖尿病视网膜病变进展
Patrick McCluskey,Mairéad T Crowley,Cosmina Barac et al.
Patrick McCluskey et al.
Summary: Activating mutations in the ABCC8 gene are extremely rare and cause ABCC8-MODY. The phenotype is variable with onset of diabetes in childhood/early adulthood. Retinopathy is the most common reported complication....
RFX6 maturity-onset diabetes of the young: clinical considerations and novel use of tirzepatide [0.03%]
RFX6 成年发病型糖尿病：临床考虑及司美格鲁肽的新用途
Prethivan Pillai Gopalakrishnan,Amit Banerjee,Rachael Milne et al.
Prethivan Pillai Gopalakrishnan et al.
Summary: RFX6 maturity-onset diabetes of the young (RFX6-MODY) is a relatively new MODY subtype, with limited guidance on management, particularly in pregnancy. We report the clinical features and management of two female...
Multidisciplinary diagnosis and treatment of iatrogenic Cushing syndrome in a patient with obsessive-compulsive disorder [0.03%]
一名强迫症患者医源性库欣综合征的多学科诊断与治疗
Ruixue Sun,Shuang Liu,Hong Han et al.
Ruixue Sun et al.
Summary: Iatrogenic Cushing syndrome caused by topical corticosteroid preparations is only reported in infants. We describe a case in a patient with obsessive-compulsive disorder: the patient had tic disorder and obsessiv...
Papillary thyroid carcinoma in thyroglossal duct cyst: a Peruvian case series [0.03%]
舌骨甲状囊肿的乳头状甲状腺癌：秘鲁病例系列
José Luis Paz-Ibarra,Marialejandra Delgado Rojas,Edward Paucar Holgado et al.
José Luis Paz-Ibarra et al.
Summary: Papillary thyroid carcinoma (PTC) is the most frequent type of differentiated thyroid cancer, while thyroglossal duct cysts (TGDCs) are common congenital anomalies of the neck. The coexistence of PTC within a TGD...
A nonfunctional adrenal incidentaloma revealed by intestinal obstruction: metastatic adrenocortical carcinoma diagnosed by surgery [0.03%]
肠梗阻引起的非功能性肾上腺偶发瘤：手术诊断的转移性肾上腺皮质癌
Yasemin Keskin,Pınar Dağ,Elif Buse Güngör
Yasemin Keskin
Summary: This case report describes an 84-year-old male patient who presented with symptoms of intestinal obstruction and was subsequently diagnosed with metastatic adrenocortical carcinoma (ACC), a rare and aggressive en...
Atypical presentation and association of medullary thyroid carcinoma: reports from a tertiary care center in Northwest India [0.03%]
西北印度三级医疗中心髓样甲状腺癌的不典型表现和关联报告
Ananda Mohan Chakraborty,Jayaditya Ghosh,Liza Das et al.
Ananda Mohan Chakraborty et al.
Summary: Medullary thyroid carcinoma (MTC) constitutes 5-10% of thyroid malignancies but accounts for 15% of thyroid cancer-related mortality. Twenty percent of MTC are hereditary and are part of familial MTC or multiple ...
From herbal hope to hormonal havoc: chronic ashwagandha use and HPA axis suppression [0.03%]
从草药希望到激素混乱：淫羊藿的长期使用与HPA轴抑制
Juveria Javid,Sumana Reddy Kunnuru,Beatrice Anne et al.
Juveria Javid et al.
Summary: This case report describes a 55-year-old postmenopausal woman who presented with Cushingoid features and progressive weight gain over a year. Evaluation revealed low basal cortisol levels and a suboptimal respons...
Impact of growth hormone treatment on a 12-year-old female with newly diagnosed panhypopituitarism and distal arthrogryposis [0.03%]
生长激素治疗新诊断的全垂体功能减退和远端肌强直12岁女性的影响
Leo L T Meller,Ghassan Akkad,Mary Patterson
Leo L T Meller
Summary: Panhypopituitarism, characterized by multiple pituitary hormone deficiencies, is most often diagnosed in infancy or early childhood with adolescent presentation being uncommon. We present a 12-year-old female wit...