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山东大学学报 (医学版) ›› 2022, Vol. 60 ›› Issue (2): 48-53.doi: 10.6040/j.issn.1671-7554.0.2021.1365

• 临床医学 • 上一篇    下一篇

GnRHa联合rhGH治疗婴幼儿灰结节错构瘤1例并文献复习

王增敏,韩金燕,李桂梅   

  1. 山东第一医科大学附属省立医院儿科, 山东 济南 250021
  • 发布日期:2022-01-25
  • 通讯作者: 李桂梅. E-mail:liguimei2013@126.com

GnRHa in combination with rhGH in the treatment of an infantile hypothalamic hamartoma and literature review

WANG Zengmin, HAN Jinyan, LI Guimei   

  1. Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China
  • Published:2022-01-25

摘要： 目的 探讨继发于灰结节错构瘤的儿童中枢性性早熟治疗策略及结局。 方法 回顾分析1例婴儿期以阴道流血伴乳房发育发病,确诊为灰结节错构瘤的病例临床资料,并以“下丘脑/灰结节错构瘤”“hypothalamic hamartoma”为检索词,检索并复习相关文献。 结果 女性患儿,生后4月龄出现间断阴道流血伴乳房发育,就诊时年龄3岁11个月,确诊为“中枢性性早熟、灰结节错构瘤”。应用促性腺激素释放激素类似物(GnRHa)治疗1年,身高增长不理想,预测成年身高受损明显,联合重组人生长激素(rhGH)治疗,治疗3.5年后(8岁6个月)停药,停药后1年左右恢复规律月经,停药2年(年龄10岁7个月)测身高164.8 cm,超过遗传靶身高,复查性激素正常,未见不良反应,垂体MRI显示瘤体未见体积及位置改变。 结论 灰结节错构瘤所致中枢性性早熟可在婴儿期发病,需与小青春期鉴别,治疗首选GnRHa,效果较好,成年身高受损严重可联合rhGH治疗,安全有效。

关键词: 灰结节错构瘤, 婴幼儿期, 中枢性性早熟, 促性腺激素释放激素类似物, 重组人生长激素

Abstract: Objective To investigate the treatment strategy and outcome of central precocious puberty(CPP)secondary to hypothalamic hamartoma(HH)in children. Methods The clinical data of a girl with HH presenting with vaginal bleeding and breast development were retrospectively analyzed. The word “hypothalamic hamartoma” was used as a keyword to retrieve literature. Results The female patient presented with intermittent vaginal bleeding and breast development at the age of 4 months after birth aged 3 years and 11 months at the time of diagnosis, and was diagnosed as “central precocity and grey nodular hamartoma.” After 1-year treatment with gonadotropin-releasing hormone analogs(GnRHa), her height did not increase as desired and the prediction was that her height would be impaired when she grew up. After that, recombinant human growth hormone(rhGH)was added, and the combination therapy was terminated after 3.5 years when the girl was 8.5 years old. Regular menstruation resumed 1 year after medications withdrawal. At the age of 10 years and 7 months, her height reached 164.8 cm, higher than the target height. Reexamination showed that sex hormones were normal and no adverse reactions were observed. MRI of pituitary gland showed no changes in tumor size and location. Conclusion CPP secondary to HH can occur in infancy, which needs to be differentiated from mini-puberty. GnRHa is recommended; combination treatment with rhGH should be administered when the patients’ height may be affected, which is not only safe, but highly effective.

Key words: Hypothalamic hamartoma, Infancy, Central precocious puberty, Gonadotropin-releasing hormone analogs, Recombinant human growth hormone

中图分类号: 

  • R725.8
[1] CW Chalumeau M, Trivin C. Central precocious puberty in girls: an evidence-based diagnosis tree to predict central nervous system abnormalities [J]. Pediatrics, 2002, 109(2): 61-67.
[2] 中华医学会儿科学分会内分泌遗传代谢学组. 中枢性性早熟诊断与治疗共识[J]. 中华儿科杂志, 2015, 53(6): 412-418.
[3] Weissenberger AA, Dell ML,Liow K, et al. Aggression and psychiatric comorbidity in children with hypothalamic hamartomas and their unaffected siblings [J]. J Am Acad Child Adolesc Psychiatry, 2001, 40(6): 696-703.
[4] Latronico AC, Brito VN, Carel JC. Causes, diagnosis, and treatment of central precocious puberty [J]. Lancet Diabetes Endocrinol, 2016, 4(3): 265-274.
[5] 李春德, 罗世祺, 马振宇, 等. 下丘脑错构瘤214例临床特征分析[J]. 中华神经外科杂志, 2009, 25(6): 497-499. LI Chunde, LUO Shiqi, MA Zhenyu, et al. Clincal characteristics of 214 cases on hypothalamic hamartoma[J]. Chin J Neurosurg, 2009, 25(6):497-499.
[6] Acharya SV, Gopal RA, Menon OS, et al. A rare case of central precocious puberty due to hypothalamic hamartoma diagnosed in utero [J]. Endocr Pract, 2010, 16: 237-240.
[7] Vestergaard ET, Schjørring ME, Kamperis K, et al. The follicle-stimulating hormone(FSH)and luteinizing hormone(LH)response to a gonadotropin-releasing hormone analogue test in healthy prepubertal girls aged 10 months to 6 years [J]. Eur J Endocrinol, 2017, 176(6): 747-753.
[8] Ng SM, Kumar Y, Cody D, et al. Cranial MRI scans are indicated in all girls with central precocious puberty [J]. Arch Dis Child, 2003, 88(5): 414-418.
[9] 刘敏,倪桂臣. 儿童肿瘤相关性早熟30例病因及临床特征[J]. 中国实用儿科临床杂志, 2013, 28(20): 1548-1551. LIU Min, NI Guichen. Etiology and clinical characteristics of 30 children with tumor-associated precocity [J]. Chinese Journal of Applied Clinical Pediatrics, 2013, 28(20):1548-1551.
[10] JH Culler FL, Simon ML, Jones KL. Identification of gonadotropin-releasing hormone in neurons of a hypothalamic hamartoma in a boy with precocious puberty [J]. Neurosurgery, 1985, 17(3): 408-412.
[11] H JungSR Ojeda. Pathogenesis of precocious puberty in hypothalamic hamartoma [J]. Horm Res, 2002, 57(Suppl 2): 31-34. doi:10.1159/000058097.
[12] Parent AS, Matagne V, Westphal M, et al. Gene expression profiling of hypothalamic hamartomas: a search for genes associated with central precocious puberty [J]. Horm Res, 2008, 69(2): 114-123.
[13] 金文胜, 李红梅, 李佳, 等. 下丘脑错构瘤引起的性早熟的临诊应对[J]. 中华内分泌代谢杂志, 2014, 30(7): 617-620. JIN Wensheng, LI Hongmei, LI Jia, et al. Approach to the patient with hypothalamic hamartoma-induced precocious puberty [J]. Chinese Journal of Endocrinology and Metabolism, 2014, 30(7): 617-620.
[14] Jung H, Neumaier Probst E, Hauffa BP, et al. Association of morphological characteristics with precocious puberty and/or gelastic seizures in hypothalamic hamartoma [J]. J Clin Endocrinol Metab, 2003, 88(10): 4590-4595.
[15] Eugster EA. The use of gonadotropin-releasing hormone analogs beyond precocious puberty [J]. J Pediatr, 2015, 167(2): 481-485.
[16] 冯海英,沈永年. 曲谱瑞林治疗下丘脑错构瘤及长期随访[J]. 海峡药学, 2009, 21(10): 157-159.
[17] Kotwal N, Yanamandra U, Menon AS, et al. Central precocious puberty due to hypothalamic hamartoma in a six-month-old infant girl [J]. Indian J Endocrinol Metab, 2012, 16(4): 627-630.
[18] Yoon DY, Kim JH. An 11-month-old girl with central precocious puberty caused by hypothalamic hamartoma [J]. Ann Pediatr Endocrinol Metab, 2016, 21(4): 235-239.
[19] Ramos CO, Latronico AC, Cukier P, et al. Long-term outcomes of patients with central precocious puberty due to hypothalamic hamartoma after gnRHa treatment: anthropometric, metabolic, and reproductive aspects [J]. Neuroendocrinology, 2018, 106(3): 203-210.
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