In a small but not negligible proportion of thalassemic patients, a true growth hormone deficiency (GHD), not secondary to pubertal delay, can be documented. Among the features of adult GHD syndrome, osteoporosis leads to a 2.5-fold increase in fracture risk. Thalassemia is characterized by a peculiar bone disease leading to osteopenia. The effectiveness of GH treatment in GHD adult thalassemic patients has not been explored yet. We report here the case of such a patient, displaying both true GHD and hypogonadism, treated in different periods with GH and testosterone.
Case description: A 22 yr-old man affected by Cooleys disease with a height of 155 cm (< 3rd percentile for age), a bone age of 13 yr 6 mo, and pubertal stage P2G1. Hypogonadotropic hypogonadism and GHD (lack of GH response to stimuli after testosterone priming) were documented, together with femoral osteopenia (T score −2.25) and severe lumbar osteoposis (T score −4.75). After one year of GH treatment 0.24 U/kg weekly, dosage usually used in childhood, clear-cut increases in height (+8 cm), femoral BMD (+4%) and lumbar BMD (+6.5%) were observed. Pubertal status and bone age were unchanged. Following a two month wash-out period, the patient was started on i.m. testosterone enanthate 250 mg monthly. After one year, further increases in height (+5 cm), femoral BMD (+4.5%) and lumbar BMD (+7.1%) were registered. Pubertal status proceeded to P5G5, with an unchanged delay in bone age.
Comment: These data, although available so far in a single subject, demonstrate the effectiveness of GH treatment in Cooleys adult patients with GHD. Given the clinical relevance of adult GHD, the potential benefits of GH replacement deserve considering also in thalassemia major.