|Title:||Hypogonadotropic Hypogonadism and Hematologic Phenotype in Patients with Transfusion-Dependent Beta-Thalassemia||Authors:||CHEN, JIMMY PENG-SHENG
|Keywords:||thalassemia;hypogonadotropic hypogonadism;hematologic genotype;hematologic phenotype||Issue Date:||2003||Journal Volume:||v.25||Journal Issue:||n.11||Start page/Pages:||880-884||Source:||JOURNAL OF PEDIATRIC HEMATOLOGY/ONCOLOGY||Abstract:||
Objective: To determine the prevalence and risk factors of hypogonadotropic hypogonadism in transfusion-dependent patients with thalassemia. Patients and Methods: The authors examined 29 patients with thalassemia major aged 15 years or older. Luteinizing hormone-releasing hormone tests were performed and β- thalassemia mutations were analyzed by direct sequencing. Results: The prevalence of hypogonadotropic hypogonadism was 72%. Failure of puberty was observed in 5 of 11 (45%) boys and 7 of 18 (39%) girls. Arrested puberty was noted in two boys (18%) and five girls( 28%). Ten girls (56%) did not menstruate, two (11%) had regular menstrual cycles, one (6%) had irregular menstrual cycles, and five (28%) developed secondary amenorrhea. Twenty-one and eight patients had theβ0/β0 and β0/β+ hematologic phenotypes, respectively β0- thalassemia mutation alleles involved IVS II-654 (C-T), codons 41/42 (- TCTT), codons 27/28 (+C), and codons 17 (A-T). β+- thalassemia mutations alleles were -28 (A-G) and HbE ( codons 26 (GAG-AAG)). Hematologic phenotype (odds ratio, 28. 50;P=0.002) was the only risk factor identified in the logistic regression analysis. Conclusions: In patients with thalassemia major, genetic differences may unfluence their susceptibility to hypogonadotropic hypogonadism, possibly as a result of differences in the amounts of blood transfused and/or their vulnerability to free radical damage. The hematologic phenotype is a main determinant of the severity of thalassemia major, hence, it may influence the need for and frequency of blood transfusion and the patient's iron- overload status.
|Appears in Collections:||醫學系|
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