Endocrine abnormalities in patients with Fanconi anemia

J Clin Endocrinol Metab. 2007 Jul;92(7):2624-31. doi: 10.1210/jc.2007-0135. Epub 2007 Apr 10.


Background: Fanconi anemia (FA) is an inherited disorder with chromosomal instability, bone marrow failure, developmental defects, and a predisposition to cancer. Systematic and comprehensive endocrine function data in FA are limited.

Objective: We studied a cohort of FA patients enrolled in the National Cancer Institute's Inherited Bone Marrow Failure Syndrome study.

Study design and patients: Retrospective review of the medical records of 45 FA patients (ages 2-49 yr), 23 of whom were intensively evaluated at the National Institutes of Health. Anthropometric measurements, GH, IGF-I, IGF binding protein-3, thyroid, gonadal hormone, lipid levels, glucose homeostasis, brain imaging, and bone mineral density were obtained in these latter patients.

Results: Endocrine abnormalities were present in 73%, including short stature and/or GH deficiency (51%), hypothyroidism (37%), midline brain abnormalities (17%) (these patients had very short stature and 60% were GH-deficient); abnormal glucose/insulin metabolism (39%); obesity (27%); dyslipidemia (55%); and metabolic syndrome (21%). Patients with any endocrine abnormality were shorter than those without; only GH deficiency correlated significantly with short stature (P = 0.01). In addition, 65% of peripubertal or postpubertal patients had gonadal dysfunction. Ninety-two percent of the patients 18 yr or older had osteopenia or osteoporosis.

Conclusions: Endocrine dysfunction is widespread in children and adults with FA; we expand the FA phenotype to include early onset osteopenia/osteoporosis and lipid abnormalities. Despite the reputation of FA as a progressive, lethal disease, proper management of the full spectrum of FA-related endocrinopathy offers major opportunities to reduce morbidity and improve quality of life. Our findings emphasize the need for comprehensive endocrine and metabolic evaluation and long-term follow-up in patients with FA.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Adult
  • Age Determination by Skeleton
  • Body Height
  • Body Weight
  • Brain / pathology
  • Child
  • Child, Preschool
  • Cohort Studies
  • Endocrine System Diseases / complications*
  • Endocrine System Diseases / pathology
  • Endocrine System Diseases / physiopathology*
  • Fanconi Anemia / complications*
  • Fanconi Anemia / physiopathology*
  • Female
  • Glucose Intolerance / complications
  • Glucose Intolerance / pathology
  • Glucose Intolerance / physiopathology
  • Human Growth Hormone / blood
  • Human Growth Hormone / deficiency
  • Humans
  • Hypogonadism / complications
  • Hypogonadism / pathology
  • Hypogonadism / physiopathology
  • Hypopituitarism / complications
  • Hypopituitarism / pathology
  • Hypopituitarism / physiopathology
  • Hypothyroidism / complications
  • Hypothyroidism / pathology
  • Hypothyroidism / physiopathology
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Pituitary Gland / pathology
  • Thyroid Hormones / blood


  • Thyroid Hormones
  • Human Growth Hormone