Kanner Lauren, Hakim Julie C E, Davis Kankanamge Christina, Patel Vrunda, Yu Vivian, Podany Emily, Gomez-Lobo Veronica
Department of Pediatrics, Division of Pediatric Endocrinology, University of Wisconsin, Madison, Wisconsin.
Division of Pediatric and Adolescent Gynecology, Departments of OB/GYN and Pediatrics, Baylor College of Medicine, Houston, Texas.
J Pediatr Adolesc Gynecol. 2018 Dec;31(6):597-604. doi: 10.1016/j.jpag.2018.06.006. Epub 2018 Jun 27.
Primary ovarian insufficiency (POI) in adolescents not due to cytotoxic therapy has not been well studied. Causes of POI have been described in adults, but adolescents might represent a unique subset necessitating a targeted approach to diagnosis, workup, and treatment. We sought to better characterize adolescent POI through a descriptive multicenter study.
Case series of patients with POI.
Six tertiary care institutions.
Patients presenting from 2007 to 2014 aged 13-21 years diagnosed with noncytotoxic POI, with exclusions for those who received gonadotoxic therapy, with 46XY gonadal dysgenesis, or lack of evidence of hypergonadotropic hypogonadism on chart review.
Review and data extraction of records identified according to International Classification of Diseases Ninth or Tenth Revision codes.
Data were analyzed for signs and symptoms, workup, and treatments. Complete workup was on the basis of American College of Obstetricians and Gynecologists guidelines. Characteristics of patients with POI who presented with delayed puberty/primary amenorrhea vs secondary amenorrhea were compared.
One hundred thirty-five records were identified. Those who had received cytotoxic therapy (n = 52), 46XY gonadal dysgenesis (n = 7), or on review did not have POI (n = 19) were excluded. Of 57 remaining cases, 16 were 45X, 2 had galactosemia, and 4 had X-chromosome abnormalities. Most did not undergo full etiologic evaluation. Girls diagnosed after primary amenorrhea/delayed puberty were less symptomatic and more likely to receive an estrogen patch than those diagnosed after secondary amenorrhea.
Noncytotoxic POI in adolescents is an uncommon condition with, to our knowledge, only 64 cases in 6 institutions over 7 years. These patients might not undergo complete etiological workup. Aside from 45X, the most common etiologies were X-chromosome abnormalities or galactosemia.
青少年原发性卵巢功能不全（POI）（非细胞毒性治疗所致）尚未得到充分研究。POI的病因在成人中已有描述，但青少年可能是一个独特的亚组，需要有针对性的诊断、检查和治疗方法。我们试图通过一项描述性多中心研究更好地描述青少年POI的特征。
POI患者的病例系列研究。
六家三级医疗机构。
2007年至2014年就诊的年龄在13至21岁之间、被诊断为非细胞毒性POI的患者，排除接受性腺毒性治疗、患有46XY性腺发育不全或病历审查时缺乏高促性腺激素性性腺功能减退证据的患者。
根据国际疾病分类第九版或第十版编码对确定的记录进行审查和数据提取。
分析症状体征、检查和治疗的数据。完整的检查依据美国妇产科医师学会指南进行。比较青春期延迟/原发性闭经与继发性闭经的POI患者的特征。
共识别出135份记录。排除接受细胞毒性治疗的患者（n = 52）、患有46XY性腺发育不全的患者（n = 7）或经审查无POI的患者（n = 19）。在其余57例病例中，16例为45X，2例患有半乳糖血症，4例存在X染色体异常。大多数患者未进行全面的病因评估。与继发性闭经后诊断的女孩相比，原发性闭经/青春期延迟后诊断的女孩症状较轻且更有可能接受雌激素贴片治疗。
青少年非细胞毒性POI是一种罕见疾病，据我们所知，7年间6家机构仅有64例。这些患者可能未接受完整的病因检查。除45X外，最常见的病因是X染色体异常或半乳糖血症。
