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中华诊断学电子杂志 ›› 2025, Vol. 13 ›› Issue (01) : 45 -50. doi: 10.3877/cma.j.issn.2095-655X.2025.01.007

所属专题： 经典病例；

内分泌代谢性疾病诊治

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
罗亚男1, 邵红亚2, 刘福朋2, 张梅2, 班博2, 李艳英2,†()   
  1. 1. 272067 济宁医学院临床医学院
    2. 272029 济宁医学院附属医院内分泌遗传代谢科
  • 收稿日期:2024-10-23 出版日期:2025-02-26
  • 通信作者: 李艳英
  • 基金资助:
    济宁医学院附属医院主诊组项目(ZZTD-2022-005)

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

Yanan Luo1, Hongya Shao2, Fupeng Liu2, Mei Zhang2, Bo Ban2, Yanying Li2,†()   

  1. 1. Department of Clinical Medicine, Jining Medical University, Jining 272067, China
    2. Department of Endocrinology,Genetics and Metabolism, the Affiliated Hospital of Jining Medical University, Jining 272029, China
  • Received:2024-10-23 Published:2025-02-26
  • Corresponding author: Yanying Li
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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/OL]. 中华诊断学电子杂志, 2025, 13(01): 45-50.

Yanan Luo, Hongya Shao, Fupeng Liu, Mei Zhang, Bo Ban, Yanying Li. A case of growth hormone deficiency combined with thalassemia treated with growth hormone and letrozole[J/OL]. Chinese Journal of Diagnostics(Electronic Edition), 2025, 13(01): 45-50.

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0.059 μg/L 和0.959 μg/L,血清胰岛素样生长因子-1 282 μg/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。

关键词: 来曲唑, 身材矮小, 生长激素, 地中海贫血

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 0.059 μg/L and 0.959 μg/L, respectively. The serum insulin-like growth factor-1 level was 282 μg/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 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.

Key words: Letrozole, Short stature, Growth hormone, Thalassemia
表1 生长激素缺乏症合并地中海贫血患儿胰岛素低血糖、左旋多巴生长激素激发试验结果
项目 0(min) 15(min) 30(min) 60(min) 90(min) 120(min)
胰岛素低血糖生长激素激发试验
血糖(mmol/L) 4.3 2.1 2.1 4.3 6.0 6.7
GH(μg/L) 0.338 0.020 0.054 0.959 0.188 0.059
左旋多巴生长激素激发试验
GH(μg/L) 0.023 - 0.09 0.03 0.059 0.029
表2 生长激素缺乏症合并地中海贫血患儿部分生化指标及临床资料
年龄 RBC(×1012/L) Hb(g/L) MCV(fL) MCH(pg) MCHC(g/L) T(nmol/L) E2(nmol/L) GH用量(U) 来曲唑用量(mg)
9岁11个月 6.18 124 65.5 20.1 306 - - - -
12岁 5.87 117 67.0 19.9 298 0.97 83.87 5 -
12岁3个月 6.06 120 67.3 19.8 284 - - 5 -
12岁6个月 6.07 121 67.2 19.9 297 - - 5 -
12岁9个月 6.25 127 67.4 20.3 302 - - 6.5 -
13岁 6.15 126 67.2 20.5 305 - - 7 -
13岁2个月 6.32 124 63.5 19.6 308 - - 7 -
13岁6个月 5.99 117 64.9 19.5 301 - - 7 -
13岁9个月 6.31 125 67.2 19.8 295 7.50 62.43 7 2.5
14岁2个月 6.85 136 66.1 19.9 300 32.51 43.71 8 2.5
14岁8个月 6.93 144 64.5 20.8 323 - - 11 2.5
15岁 6.49 138 66.6 21.2 319 24.74 44.02 12 2.5
15岁2个月 6.78 135 67.1 19.9 297 25.71 ＜36.82 12 2.5
15岁6个月 6.68 135 68.7 20.2 294 27.14 ＜36.82 12 2.5
15岁9个月 7.07 142 68.2 20.1 295 31.65 ＜36.82 12 2.5
16岁 7.47 148 68.7 19.8 288 24.88 ＜36.82 10 停药
16岁3个月 6.95 139 66.3 20.0 302 21.86 ＜36.82 10 停药1个月
16岁4个月 7.05 138 66.5 19.6 294 - - 10 -
表3 生长激素缺乏症合并地中海贫血患儿生长发育情况
实足年龄 身高(cm) 体重(kg) 体重指数(kg/m2) 骨龄(岁)
9岁11个月 126.9 35 21.73 约9岁
10岁 127.5 35.5 21.84 -
10岁2个月 128.7 36 21.73 -
11岁1个月 133.2 37 20.85 约11.5岁
12岁 137.2 42 22.31 约12.5岁
12岁1个月 138.5 44 22.94 -
12岁3个月 140.6 42 21.25 -
12岁6个月 143.4 42 20.42 约13岁
12岁9个月 145.3 43 20.37 -
13岁 147.7 46 21.09 约13.5岁
13岁2个月 149.8 45 20.05 -
13岁6个月 152.1 47 20.32 约14岁
13岁9个月 153.7 50 21.17 约14岁
14岁2个月 157.6 54 21.74 约14岁
14岁8个月 161.3 61 23.45 约14岁
15岁 162.4 62 23.51 -
15岁2个月 164.6 61 22.51 约15岁
15岁6个月 166.5 62 22.36 -
15岁9个月 168.0 67 23.74 约15岁
16岁 169.4 68 23.70 -
16岁3个月 170.5 70.5 24.25 约15岁
16岁4个月 170.5 70.5 24.25 -
图1 CHD 合并TT 患儿生长曲线 注:rhGH 表示患者开始应用重组人生长激素治疗方案;AI+rhGH 表示患者开始应用来曲唑联合重组人生长激素治疗方案;曲线为中国2~18 岁男童身高百分位曲线图,来自首都儿科研究所生长发育研究室;rhGH 为重组人生长激素;AI 为芳香化酶抑制剂;GHD 为生长激素缺乏症;TT 为地中海贫血
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