Endocrine Abstracts

Introduction: Fanconi anemia (FA) is an autosomal recessive disease associated with chromosomal instability, it is marked by phenotypic heterogeneity. Patients with FS often exhibit growth retardation due to complex factors such as hypophosphatemia, metabolic acidosis, disturbed vitamin D metabolism. On the other hand, endocrinopathies are a common feature of FA specially such as Growth hormone deficiency (GHD). We report here two cases of Fanconi disease associated to GH deficiency.

Clinical observation: The first patient is 12 years old initially followed in haematology for Fanconi’s disease discovered by bone marrow aplasia and confirmed by the presence of chromosomal breaks. For the 2nd patient, it is a 6-year-old child also followed in hematology for confirmed Fanconi disease and referred for suspicion of GH deficiency in front of a severe statural delay (height at 91 cm or between −3 and −4 DS). Explorations showed a bone age lower than chronological age for both patients (11 years and 4 years respectively), and celiac serology was negative in the two cases. GH stimulation test (insulin hypoglycemia test and catapressan test) demonstrated GHD. For the both patients the serum insulin-like growth factor I (IGF1) was low. Corticotropic deficiency confirmed by a lack of response to the insulin hypoglycemia test was associated with somatotropic deficiency in the first patient. The hypothalamic-pituitary MRI showed for an hypoplastic pituitary gland in the first case and a pituitary stem section syndrome in the 2nd patient. Both children received recombinant GH with a good response to treatment.

Conclusions: The differential diagnosis of GHD should be considered for FS patient with a short statue. The demonstration of abnormal endogenous GH secretion may demonstrate an underlying hypothalamic-pituitary dysfunction that results in poor growth. Proper management can improve the height prognosis.