Abstract:

Objective

To explore the clinical features, diagnosis and treatment of patients with growth hormone deficiency (GHD) combined with thalassemia (TT).

Methods

The clinical and follow-up data of a male patient with GHD and TT admitted to the Department of Endocrinology, Genetics and Metabolism of the Affiliated Hospital of Jining Medical University on March 30, 2020, were retrospectively analyzed.

Results

The 12-year-old male patient, with a height of 137.2 cm (-2.0 SD) and a weight of 42 kg, had a genetic target height of 171.5 cm. His bone age was approximately 12.5 years (Greulich-Pyle atlas). The peak growth hormone levels in the levodopa and insulin hypoglycemia stimulation test were 0.059 μg/L and 0.959 μg/L, respectively. The serum insulin-like growth factor-1 level was 282 μg/L. The patient was treated with recombinant human growth hormone (rhGH). During the follow-up period, he was diagnosed with TT. Genetic testing confirmed α-thalassemia trait (--/αα), with hemoglobin (Hb) levels from repeated measures between 117 g/L and 127 g/L, and no special treatment was provided. After 21 months of rhGH treatment, his height increased to 153.7 cm (-1.69 SD), with a bone age of 14 years and a predicted adult height of 165.8 cm (-1.15 SD). Letrozole was added to delay bone age progression.After 51 months of follow-up, letrozole was discontinued. The height reached 170.5 cm (-0.26 SD), bone age was approximately 15 years, and the predicted adult height was 176.1 cm (0.57 SD). Hb level improved to 139 g/L, and thereafter, only growth hormone therapy was administered.

Conclusion

Letrozole can effectively delay bone age progression, improve Hb levels, and further enhance height outcomes in patients with GHD combined with TT.

Key words: Letrozole, Short stature, Growth hormone, Thalassemia