Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants [0.03%]
遗传性平滑肌瘤病和肾细胞癌（HLRCC）、嗜铬细胞瘤（PCC）/副神经节瘤（PGL）以及 FH 基因胚系变异
John J Orrego,Joseph A Chorny
John J Orrego
Summary: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition characterized by multiple cutaneous and uterine leiomyomas and renal cell cancer (RCC). HLRCC is caused by germline patho...
Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp [0.03%]
GATA3新型突变p.Ala287Asp引起的低钙血症，耳聋和肾病综合征(HDR综合症)病例报道
Luke Vroegindewey,John Kim,Dennis J Joseph
Luke Vroegindewey
Summary: HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding pro...
Reversible suppression of hypothalamo-pituitary-adrenal axis in Addison's disease due to ethinyl oestradiol-induced increase in total cortisol [0.03%]
乙烯雌酚所致总皮质醇增加引起阿狄森氏病下丘脑-垂体-肾上腺轴的可逆性抑制
Krzysztof C Lewandowski,Monika Głuchowska,Małgorzata Karbownik-Lewińska et al.
Krzysztof C Lewandowski et al.
Summary: An oral contraceptive pill (OCP)-induced increase in total cortisol lead to reversible suppression of the hypothalamic-pituitary-adrenal (HPA) axis and insulin resistance (IR) in a patient with Addison's disease....
Juliana Gonçalves,Helena Urbano Ferreira,Sara Ribeiro et al.
Juliana Gonçalves et al.
Summary: Maturity-onset diabetes of the young (MODY) is a subtype of monogenic diabetes and a rare type of diabetes, which accounts for 1-5% of cases and is often underdiagnosed. The importance of its diagnosis lies in th...
Rika Sasaki,Haruhiko Yamazaki,Eita Kumagai et al.
Rika Sasaki et al.
Summary: A 56-year-old woman with cervical pain with a history of ovarian clear cell carcinoma stage IIIC was admitted to a primary care doctor. Ultrasonography revealed a microhyperechoic nodule in the thyroid gland and ...
Primary hyperparathyroidism due to a giant parathyroid adenoma presenting with pathological fractures and multiple brown tumors [0.03%]
巨大甲状旁腺瘤所致原发性甲旁亢伴病理性骨折和多发动脉粥样硬化样骨损害病例报告
Jassy Meng,Wedyan M Aboznadah,Marc Pusztaszeri et al.
Jassy Meng et al.
Summary: Primary hyperparathyroidism (PHPT) is a disorder in which excessive parathyroid hormone (PTH) is secreted from the parathyroid glands. The cause of PHPT is most commonly parathyroid lesions such as parathyroid ad...
Extra-adrenal adrenocortical cancer associated with multiple endocrine neoplasia type 1 [0.03%]
与多发性内分泌腺瘤病Ⅰ型相关的肾上腺外皮质癌
Deirdre Green,Kate Richards,Brendan Doyle et al.
Deirdre Green et al.
Summary: Adrenocortical carcinoma (ACC) is a rare malignant tumour arising from the adrenal cortex, with an estimated annual incidence of one to two patients per million. Ectopic ACCs are extremely rare. The majority of A...
Adrenocortical insufficiency after bilateral adrenal hemorrhage due to anticoagulation and chronic immunothrombocytopenia [0.03%]
抗凝和慢性免疫血小板减少症导致双侧肾上腺出血后的肾上腺皮质功能不全
Sophie Charlotte Hintze,Felix Beuschlein
Sophie Charlotte Hintze
Summary: Adrenocortical insufficiency is defined as the clinical manifestation of chronic glucocorticoid and/or mineralocorticoid deficiency due to failure of the adrenal cortex. It may result in an adrenal crisis, which ...
Michael D Luppino,Huyen Nguyen,Matilda Smale et al.
Michael D Luppino et al.
Summary: We describe and characterise the case of a 26-year-old female undergoing surgery for a right-sided sinonasal alveolar rhabdomyosarcoma who developed profound, transient arginine vasopressin deficiency (AVP-D, for...
Atypical thyroid tests in an athlete treated for hypothyroidism as the first symptom of pituitary dysfunction due to relative energy deficiency [0.03%]
运动性甲状腺功能减退治疗过程中运动员出现非典型甲状腺检查结果是相对能量不足继发垂体功能障碍的首要症状
Monika Skrzypiec-Spring,Justyna Kuliczkowska-Płaksej,Adam Szeląg et al.
Monika Skrzypiec-Spring et al.
Summary: Relative energy deficiency in sport occurs in athletes who have limited energy availability. Its typical features include reversible suppression of the hypothalamic-pituitary-gonadal axis. In addition, it may be ...