Two case reports of X-linked acrogigantism and pathogenic gene detection
10.3760/cma.j.cn311282-20210311-00157
- VernacularTitle:两例X连锁肢端肥大性巨人症病例报道及致病基因检测
- Author:
Hanting LIANG
1
;
Fengying GONG
;
Zhihui LIU
;
Yingying YANG
;
Yong YAO
;
Renzhi WANG
;
Linjie WANG
;
Meiping CHEN
;
Hui PAN
;
Bo CHEN
;
Zhiyong LIANG
;
Feng FENG
;
Huijuan ZHU
Author Information
1. 中国医学科学院，北京协和医学院，北京协和医院内分泌科，卫健委内分泌重点实验室，疑难重症及罕见病国家重点实验室 100730
- Keywords:
X-linked acrogigantism;
Growth hormone adenoma;
GPR101;
Micro-duplication
- From:
Chinese Journal of Endocrinology and Metabolism
2022;38(2):118-124
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report the clinical characteristics, diagnosis, and treatment of 2 cases of X-linked acrogigantism(X-LAG).Methods:The clinical information of two patients were retrospectively reported, and peripheral blood DNA was collected for copy number variations detection.Results:Both patients had onset at age of two, with common clinical characteristics including linear growth acceleration, mild facial coarsening, enlargement of hands and feet, increased appetite, and snoring, etc. The heights Z scores of the two patients before treatment were + 6.86 and + 6.53, respectively. Growth hormone(GH) glucose inhibition test showed that GH nadir values were over 1 ng/mL and insulin-like growth factor-Ⅰ(IGF-Ⅰ) were 586.0 ng/mL and 1 042.0 ng/mL, respectively. Patient 1 received three cycles of octreotide microspheres therapy followed by surgery, and achieved clinical and biochemical remission. Patient 2 had lanreotide for 5.5 years but failed biochemical remission. Microduplication of Xq26.3, which contained pathogenic gene G-protein coupled receptor 101(GPR101), was found in germline DNA of two patients through copy number variation detection, leading to the diagnosis of X-LAG.Conclusion:It should be cautious of X-LAG when children below 2 years old presents symptoms such as overgrowth and so on. Medication combined with surgery is effective.
