Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Klinefelter's syndrome (KS) is associated with a wide spectrum of clinical features, such as tall stature, eunuchoid proportions, testes disproportionately small for the level of pubertal development, gynecomastia and behavioral problems. The association of KS with thalassemia intermedia has not been previously reported. A male patient with thalassemia intermedia was diagnosed with KS at the age of 14 years when endocrine evaluation for delayed puberty showed hypergonadotrophic hypogonadism. Thyroid function was normal; however, basal and GnRH-stimulated gonadotropin concentrations were raised while serum testosterone was low. Karyotype analysis revealed KS (47,XXY). Testosterone replacement therapy started soon after diagnosis and now at the age of 20 years the patient's height is 178.3 cm, the U/L ratio is 0.91. Testicular volume is 12 ml (Prader orchidometer) and his pubic hair is stage 4. To our knowledge this is the first case of a patient suffering from KS and thalassemia intermedia reported in the literature.
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PMID:A patient with Klinefelter's syndrome and thalassemia intermedia. 1584 76

We report a 24 years old patient with thalassaemia intermedia and gynecomastia, complicated by paraplegia and urinary/fecal incontinence due to spinal cord compression by an extramedullary erythropoiesis (EE) mass, treated with long-term hydroxyurea (HU). Neurological improvement occurred during the first 6 weeks of HU therapy (1,000 mg/day) and magnetic resonance imaging showed a reduction in EE mass. HU dosage was reduced to 500 mg/day after 5 months, and treatment was discontinued after 25 months. Five months later there was a partial recurrence of neurological symptoms, which responded to radiotherapy. HU may have a role in the symptomatic treatment of spinal cord compression due to EE, particularly when radiotherapy is unavailable.
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PMID:Paraplegia due to spinal cord compression by extramedullary erythropoietic tissue in a thalassaemia intermedia patient with gynecomastia secondary to cirrhosis: successful treatment with hydroxyurea. 1646 20