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Minerva Endocrinologica 2012 June;37(2):201-9

language: English

A case of GH deficiency and beta-thalassemia

Smacchia M. P. 1, Mercuri V. 2, Antonetti L. 1, Bassotti G. 2, D’Amico T. 2, Pietrobono D. 2, Gargiulo P. 2

1 Division of Special Pediatric , Hematology Diagnostics, Hereditary Anemias-Rare Diseases, Department of Pediatrics and Child Neuropsychiatry, Sapienza University of Rome, Policlinico Umberto I, Rome, Italy;
2 Division of Endocrinology, Department of Experimental Medicine Sapienza University of Rome, Policlinico Umberto I, Rome, Italy


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A 23-year-old male patient, who suffers from beta-thalassemia major, came to us for an endocrine-metabolic evaluation. Medical history showed a diagnosis of heart disease with heart failure since the age of 16, type 1 diabetes mellitus diagnosed at the age of 18, treated with an intensive insulin therapy with a poor glycometabolic control. Patient performed regular blood transfusions and iron chelation with deferasirox. An echocardiogram revealed an enlarged left ventricle. Patient had undergone a comprehensive study of buoyancy both basal and hormone-stimulated and it was therefore carried out a diagnosis of GH deficiency and hypogonadotropic hypogonadism. A recombinant GH replacement therapy was then prescribed. After six months of therapy, the patient reported a net improvement of asthenic symptoms. Physical examination showed a reduction in abdominal adiposity in waist and an increase of 5 cm in stature. Laboratory tests showed an amelioration of glycometabolic control, such as to justify a reduction in daily insulin dose. The stature observed was thought appropriate to begin the administration of testosterone. Moreover, the cardiological framework showed a reduction of left ventricular dilatation, good ventricular motility, global minimum persistent tricuspid but not mitral regurgitation and no alteration on ECG.

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patrizia.gargiulo@uniroma1.it