生长激素联合来曲唑治疗生长激素缺乏症合并地中海贫血一例  

A case of growth hormone deficiency combined with thalassemia treated with growth hormone and letrozole

作　　者：罗亚男 邵红亚 刘福朋 张梅[2] 班博[2] 李艳英[2] Luo Yanan;Shao Hongya;Liu Fupeng;Zhang Mei;Ban Bo;Li Yanying(Department of Clinical Medicine,Jining Medical University,Jining 272067,China;Department of Endocrinology,Genetics and Metabolism,the Affiliated Hospital of Jining Medical University,Jining 272029,China)

机构地区：[1]济宁医学院临床医学院,272067 [2]济宁医学院附属医院内分泌遗传代谢科,272029

出　　处：《中华诊断学电子杂志》2025年第1期45-50,共6页Chinese Journal of Diagnostics(Electronic Edition)

基　　金：济宁医学院附属医院主诊组项目(ZZTD-2022-005)。

摘　　要：目的探讨生长激素缺乏症(GHD)合并地中海贫血(TT)患者的临床特征和诊疗方法。方法回顾性分析2020年3月30日济宁医学院附属医院内分泌遗传代谢科收治的1例GHD合并TT患者的临床资料及随访情况。结果患者为12岁男性少年,身高137.2 cm(-2.0 SD),体重42 kg,遗传靶身高171.5 cm,骨龄约12.5岁(G-P图谱法)。左旋多巴生长激素激发试验和胰岛素低血糖生长激素激发试验生长激素峰值分别为0.059μg/L和0.959μg/L,血清胰岛素样生长因子-1282μg/L,给予重组人生长激素(rhGH)治疗。随访期间诊断为TT(--/αα),多次查血红蛋白(Hb)117~127 g/L,未特殊治疗。rhGH治疗21个月后,身高增长至153.7 cm(-1.69 SD),骨龄14岁,预期成年终身高为165.8 cm(-1.15 SD),预期身高不理想加用来曲唑抑制骨龄进展。随访51个月后停用来曲唑,身高170.5 cm(-0.26 SD),骨龄约15岁,预期成年终身高为176.1 cm(0.57 SD),Hb 139 g/L,之后仅接受生长激素治疗。结论来曲唑可抑制骨龄进展,改善Hb水平,可进一步改善GHD合并TT患者的身高。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 0.059μg/L and 0.959μg/L,respectively.The serum insulin-like growth factor-1 level was 282μg/L.The patient was treated with recombinant human growth hormone(rhGH).During the follow-up period,he was diagnosed with TT.Genetic testing confirmedα-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.

关 键 词：来曲唑 身材矮小 生长激素 地中海贫血 

分 类 号：R72[医药卫生—儿科]