Endocrine phenotype of children and adults with Fanconi anemia.

Background: 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.

Procedure: 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.

Results: 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.

Conclusions: 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.