Tatsi Christina, Stratakis Constantine A
Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, 20892, USA.
SEGEN, NICHD, NIH, 10 Center Drive, Building 10, NIH-Clinical Research Center, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USA, E-mail:
Pediatr Endocrinol Rev. 2019 Dec;17(2):100-109. doi: 10.17458/per.vol17.2019.ts.pediatriccushingsyndrome.
Endogenous Cushing syndrome (CS) is a rare entity in the pediatric population. Patients usually present with height deceleration and continuous weight gain, along with other classic stigmata of CS, such as acne, striae, hirsutism and others. The diagnosis of CS involves documentation of abnormal cortisol secretion with measurement of urinary free cortisol and midnight serum or salivary cortisol, and the use of the 1mg dexamethasone suppression test. After confirmation of CS, localization of the source of hypercortisolemia, involves differentiation of ACTH-dependent versus ACTH-independent causes of CS. Surgical resection of the identified source of CS is the preferred method of treatment whenever possible.
内源性库欣综合征(CS)在儿科人群中是一种罕见疾病。患者通常表现为身高增长减速和体重持续增加,以及CS的其他典型体征,如痤疮、紫纹、多毛症等。CS的诊断包括通过测定尿游离皮质醇和午夜血清或唾液皮质醇来记录皮质醇分泌异常,并使用1毫克地塞米松抑制试验。确诊CS后,高皮质醇血症来源的定位涉及区分CS的促肾上腺皮质激素(ACTH)依赖性与ACTH非依赖性病因。只要有可能,手术切除已确定的CS来源是首选的治疗方法。