Background: Fanconi anemia (FA) is a rare, genetically and phenotypically heterogeneous, autosomal or x-linked recessive chromosome instability disorder characterized by multiple congenital anomalies, bone marrow failure, and increased susceptibility to specific malignancies. Other findings, including short stature, skin pigmentation, and endocrine abnormalities have been recognized, most notably GH deficiency (GHD), hypothyroidism, and hypogonadism.
Case presentation: This report includes three patients with FA referred to paediatric endocrinology consultation at our Hospital. Patient 1 and 2 are siblings. Patient 1, 21 years old female, referred to us at 11 years old, due to dyslipidemia and abnormal glucose metabolism. No need for medication up to 18 years old, when she started metformin with improvement in glucose metabolism and triglycerides, while maintaining hypercholesterolemia. Therefore simvastatin was initiated, with normalization of lipid profile. Patient 2, 11 years old male, referred to us at 7 years old, for short stature. Endocrine testing including evaluation of GH axis, and GH stimulation tests revealed GHD. Magnetic resonance imaging (MRI) showed a small pituitary gland. GH was initiated at 9 years old, with favorable response (height velocity of 69 cm/year). Patient 3, 5 years old male, premature of 35 weeks, fetal growth restriction, referred to us at 3.5 years, for short stature. Endocrine testing including evaluation of GH axis, thyroid function and lipidic profile were normal. Brain MRI showed normal pituitary gland, despite the absence of the corpus callosum. Bone age determination revealed a delay <2 S.D. Seriated height velocity were normal (6.36.9 cm/year) and he remains without treatment.
Conclusion: We pretend to emphasize the importance of periodic endocrine evaluation for patients with FA, looking for precocious diagnosis and treatment. In the particular case of GH treatment in FA patients, long-term risk is unknown, therefore, continued surveillance is needed, considering the increased risk for solid tumours in FA patients.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology