Hormone therapy in Fanconi anemia

Abstract

Introduction: Fanconi anemia (FA) is a genetic condition with extreme cancer predisposition resulting from abnormalities in repair of DNA breakage and crosslinks. Children with FA develop bone marrow failure (BMF) that is treated with androgen or hematopoietic cell transplantation, and are at risk for developing acute myeloid leukemia. In adulthood, persons with FA commonly develop squamous cell carcinomas of the head, neck or gynecological tract. Endocrine problems are common in FA.

Areas covered: Chromosomal breakage may lead to apoptosis of endocrine secretory cells. About 80% of children and adults with FA have at least one endocrine abnormality, and benefit from thyroid hormone therapy and vitamin D therapy. Some benefit from growth hormone therapy. Metformin may be beneficial if overweight develops, in view of the underlying insulin deficiency in FA. Estrogen or testosterone therapy is often required to complete pubertal development.

Expert opinion: Individuals with FA should be routinely screened for endocrine abnormalities, and when found to have hormone deficiencies, they should be treated with standard endocrine therapy. Research is needed to address a number of limitations and gaps in knowledge regarding mechanisms of endocrine deficiencies, safety/efficacy of endocrine therapies, and prevention of oxidative injury to DNA.

Keywords:

• endocrinopathy
• Fanconi anemia
• growth
• puberty
• thyroid

Acknowledgments

This article is dedicated to David Frohnmayer, who with his wife Lynn and family developed the Fanconi Anemia Research Fund, Inc. (fanconi.org). The efforts of the FARF have dramatically advanced research efforts into mechanisms underlying development of cancer, and into ways to optimize clinical care of FA. We will miss him.

Declaration of interest

The author states no conflict of interest and has received no payment in preparation of this manuscript.

Notes

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