Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio 45229, USA.
Pediatr Blood Cancer. 2012 Oct;59(4):690-6. doi: 10.1002/pbc.24095. Epub 2012 Jan 31.
Features of Fanconi anemia (FA) are well known, including bone marrow failure, congenital anomalies such as radial anomalies, renal and ear anomalies, tracheo-esophageal fistula, imperforate anus, and elevated risk for cancer. We sought to further characterize the endocrine phenotype in children and adults with FA.
Clinically indicated endocrine evaluation data from 120 persons with FA, including 78 children (43 female) and 42 young adults (who had achieved adult height, 19 female), were entered in an institutional review board-approved database. Data were analyzed according to gender, birth weight, FA complementation group, and whether or not the patient had completed linear growth or had undergone hematopoietic cell transplant, using Wilcoxon Rank Sum or Chi-square, as appropriate.
Overall, 60% of children and 58% of adults with FA had short stature, 68% of children and 30% of adults had glucose intolerance, 61% of children and 37% of adults had mild hypothyroidism, and 40% of adults had evidence of hypogonadism (not possible to fully assess in children). In general, bone mineral density (BMD) was normal in adults, while BMD in children was normal when results were adjusted for bone size/thickness using height age.
We have evaluated in detail children and adults with FA for their growth and endocrine function. Overall, 79% of children and adults with FA had one or more endocrine abnormality.
范可尼贫血（FA）的特征众所周知，包括骨髓衰竭、先天性异常，如桡骨异常、肾脏和耳部异常、气管食管瘘、肛门闭锁以及癌症风险增加。我们试图进一步描述 FA 患儿和成人的内分泌表型。
我们将来自 120 名 FA 患者的临床指征性内分泌评估数据输入到一个机构审查委员会批准的数据库中，这些患者包括 78 名儿童（43 名女性）和 42 名年轻人（已达到成人身高，19 名女性）。根据性别、出生体重、FA 互补群以及患者是否完成线性生长或接受过造血细胞移植，对数据进行分析，使用 Wilcoxon 秩和检验或卡方检验，具体取决于数据类型。
总体而言，60%的儿童和 58%的成年 FA 患者身材矮小，68%的儿童和 30%的成年 FA 患者糖耐量异常，61%的儿童和 37%的成年 FA 患者轻度甲状腺功能减退，40%的成年 FA 患者存在性腺功能减退的证据（儿童无法进行全面评估）。一般来说，成年 FA 患者的骨密度（BMD）正常，而当使用身高年龄调整骨骼大小/厚度时，儿童的 BMD 正常。
我们详细评估了 FA 患儿和成人的生长和内分泌功能。总体而言，79%的 FA 患儿和成年患者存在一种或多种内分泌异常。
