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

doi:10.3877/cma.j.issn.2095-655X.2025.01.007

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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137.2cm（-2.0SD），体重42kg，遗传靶身高171.5cm，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-1 282μg/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）117~127g/L，未特殊治疗。rhGH治疗21个月后，身高增长至153.7cm（-1.69SD），骨龄14岁，预期成年终身高为165.8cm（-1.15SD），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170.5cm（-0.26SD），骨龄约15岁，预期成年终身高为176.1cm（0.57SD），Hb 139g/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。

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关键词 ：来曲唑, 身材矮小, 生长激素, 地中海贫血

Abstract：ObjectiveTo explore the clinical features, diagnosis and treatment of patients with growth hormone deficiency (GHD) combined with thalassemia (TT). MethodsThe 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. ResultsThe 12-year-old male patient, with a height of 137.2cm (-2.0SD) and a weight of 42kg, had a genetic target height of 171.5cm. 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 confirmed α-thalassemia trait (--/αα), with hemoglobin (Hb) levels from repeated measures between 117g/L and 127g/L, and no special treatment was provided. After 21 months of rhGH treatment, his height increased to 153.7cm (-1.69SD), with a bone age of 14 years and a predicted adult height of 165.8cm (-1.15SD). Letrozole was added to delay bone age progression. After 51 months of follow-up, letrozole was discontinued. The height reached 170.5cm (-0.26SD), bone age was approximately 15 years, and the predicted adult height was 176.1cm (0.57SD). Hb level improved to 139g/L, and thereafter, only growth hormone therapy was administered. ConclusionLetrozole 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

收稿日期: 2024-10-23

基金资助:济宁医学院附属医院主诊组项目（ZZTD-2022-005）

通讯作者: 李艳英, Email: liyanying510@126.com

引用本文:

罗亚男邵红亚刘福朋张梅班博李艳英. 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[J]. 中华诊断学电子杂志, 2025, 13(1): 45-50.
Luo Yanan1, Shao Hongya2, Liu Fupeng2, Zhang Mei2, Ban Bo2, Li Yanying2.. A case of growth hormone deficiency combined with thalassemia treated with growth hormone and letrozole. zhzdx, 2025, 13(1): 45-50.

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［1］Growth Hormone Research Society. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence：summary statement of the GH Research Society.GH Research Society［J］.J Clin Endocrinol Metab,2000,85(11):3990-3993.DOI：10.1210/jcem.85.11.6984. ［2］Mameli C，Orso M，Calcaterra V，et al.Efficacy，safety，quality of life，adherence and cost-effectiveness of long-acting growth hormone replacement therapy compared to daily growth hormone in children with growth hormone deficiency：a systematic review and meta-analysis［J］.Pharmacol Res，2023（193）:106805.DOI:10.1016/j.phrs.2023.106805. ［3］Backeljauw P，Kanumakala S，Loche S，et al.Safety and effectiveness of Omnitrope((R)) (somatropin) in PATRO children：a multi-center，post-marketing surveillance study comparison of US and international cohort data［J］.Eur J Pediatr，2022,181(6):2367-2378.DOI:10.1007/s00431-022-04409-8. ［4］Zhu J，Yuan K，Rana S，et al.Long-acting growth hormone in the treatment of growth hormone deficiency in children：a systematic literature review and network meta-analysis［J］.Sci Rep，2024,14(1):8061.DOI:10.1038/s41598-024-58616-4. ［5］刘峥，杨春松，曾力楠，等.第三代非甾体类芳香化酶抑制剂治疗矮身材儿童有效性与安全性的系统评价［J］.中国循证医学杂志，2024,24(4):429-438.DOI:10.7507/1672-2531.202307118. ［6］王春林,梁黎.第三代非甾体类芳香化酶抑制剂在儿科内分泌临床应用的再认识［J］.浙江大学学报（医学版）,2020,49(3):275-282.DOI:10.3785/j.issn.1008-9292.2020.04.01. ［7］中国老年保健协会生长发育和性腺疾病分会，中国医师协会青春期医学与健康专业委员会.芳香化酶抑制剂改善青少年身高的临床应用专家共识［J］.中华医学杂志，2024,104(32):3010-3018.DOI:10.3760/cma.j.cn112137-20240317-00597. ［8］Kattamis A，Kwiatkowski JL，Aydinok Y.Thalassaemia［J］.Lancet，2022,399(10343):2310-2324.DOI:10.1016/S0140-6736(22)00536-0. ［9］Scacchi M，Danesi L，Cattaneo A，et al.Growth hormone deficiency (GHD) in adult thalassaemic patients［J］.Clin Endocrinol (Oxf)，2007,67(5):790-795.DOI:10.1111/j.1365-2265.2007.02965.x. ［10］Ngim CF，Lai NM，Hong JY，et al.Growth hormone therapy for people with thalassaemia［J］.Cochrane Database Syst Rev，2020,5(5):CD012284.DOI:10.1002/14651858.CD012284.pub3. ［11］中华医学会儿科学分会内分泌遗传代谢学组.矮身材儿童诊治指南［J］.中华儿科杂志,2008,46(6):428-430.DOI:10.3321/j.issn:0578-1310.2008.06.007. ［12］中华医学会医学遗传学分会遗传病临床实践指南撰写组.α-地中海贫血的临床实践指南［J］.中华医学遗传学杂志，2020,37(3):235-242.DOI:10.3760/cma.j.issn.1003-9406.2020.03.003. ［13］中华医学会医学遗传学分会遗传病临床实践指南撰写组.β-地中海贫血的临床实践指南［J］.中华医学遗传学杂志，2020,37(3):243-251.DOI:10.3760/cma.j.issn.1003-9406.2020.03.004. ［14］Baird DC，Batten SH，Sparks SK.Alpha- and beta-thalassemia：rapid evidence review［J］.Am Fam Physician，2022,105(3):272-280. ［15］Arab-Zozani M， Kheyrandish S， Rastgar A， et al. A systematic review and meta-analysis of stature growth complications in β-thalassemia major patients［J］.Ann Glob Health，2021，87(1):48.DOI：10.5334/aogh.3184. ［16］Almahmoud R，Hussein A，Khaja FA，et al.Growth and endocrinopathies among children with β-thalassemia major treated at Dubai thalassemia centre［J］.BMC Pediatr，2024，24(1):244.DOI：10.1186/s12887-024-04670-w. ［17］Mauras N，Ross J，Mericq V.Management of growth disorders in puberty：GH，GnRHa，and aromatase inhibitors：a clinical review［J］.Endocr Rev，2023,44(1):1-13.DOI:10.1210/endrev/bnac014. ［18］Wickman S， Sipila I， Ankarberg-Lindgren C， et al. A specific aromatase inhibitor and potential increase in adult height in boys with delayed puberty：a randomised controlled trial［J］.Lancet，2001,357(9270):1743-1748.DOI:10.1016/S0140-6736(00)04895-9. ［19］Wang W，Wang Y，Xiao Y，et al.Effects of different therapy regimens to increase final adult height in males at advanced bone age with idiopathic short stature［J］.BMC Pediatr，2023,23(1):615.DOI:10.1186/s12887-023-04429-9. ［20］He M，Zhang Y，Zhao Q，et al.Letrozole combined with rhGH treatment increases the adult height of short pubertal boys［J］.J Pediatr Endocrinol Metab，2024,37(1):74-79.DOI:10.1515/jpem-2023-0459. ［21］Akin KG，Ozalp KD，Besci O，et al.Aromatase inhibitors：a useful additional therapeutic option for slowing down advanced bone age in boys with growth hormone deficiency［J］.J Endocrinol Invest，2024,47(5):1227-1235.DOI:10.1007/s40618-023-02242-w. ［22］薛初晴,傅君芬.生长激素以外的促生长疗法研究进展［J］.浙江大学学报（医学版），2022,51(4):515-520.DOI:10.3724/zdxbyxb-2022-0099. ［23］Derya 瘙塁engün A. The effects of growth hormone treatment in patients with isolated growth hormone deficiency on hematological parameters［J］.Trends in Pediatrics，2021,2(4):165-169. ［24］Warren AM，Grossmann M.Haematological actions of androgens［J］.Best Pract Res Clin Endocrinol Metab，2022,36(5):101653.DOI:10.1016/j.beem.2022.101653. ［25］Ferris JA，Geffner ME.Are aromatase inhibitors in boys with predicted short stature and/or rapidly advancing bone age effective and safe?［J］.J Pediatr Endocrinol Metab，2017,30(3):311-317.DOI:10.1515/jpem-2016-0219.