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A Chinese case of X-linked acrogigantism and systemic review
Neuroendocrinology ( IF 4.1 ) Pub Date : 2020-10-13 , DOI: 10.1159/000512240 Hanting Liang 1 , Fengying Gong 1 , Zhihui Liu 2 , Yingying Yang 1 , Yong Yao 3 , Renzhi Wang 3 , Linjie Wang 1 , Meiping Chen 1 , Hui Pan 1 , Huijuan Zhu 4
Neuroendocrinology ( IF 4.1 ) Pub Date : 2020-10-13 , DOI: 10.1159/000512240 Hanting Liang 1 , Fengying Gong 1 , Zhihui Liu 2 , Yingying Yang 1 , Yong Yao 3 , Renzhi Wang 3 , Linjie Wang 1 , Meiping Chen 1 , Hui Pan 1 , Huijuan Zhu 4
Affiliation
Introduction: To describe a Chinese case of X-linked acrogigantism (X-LAG) and summarize the characteristics and treatment of all reported cases.
Methods: Clinical materials and biological samples from a 5-year and 2-month-old female due to “growth acceleration for 4 years” were collected. Array comparative genomic hybrid (aCGH) and further verification were performed. All X-LAG cases from the PubMed and Web of Science databases were collected and summarized using available data.
Results: The patient presented accelerating growth since 1 year of age, and her height reached 134.6 cm (+5.24 standard deviation score, SDS) when she was 5 years and 2 months old. She also had coarsening facial features, snoring, and acral enlargement. Growth hormone (GH) was not suppressed by the glucose-GH inhibition test, and insulin-like growth factor 1 (IGF-1) and prolactin levels were elevated. Pituitary magnetic resonance imaging (MRI) revealed a pituitary enlargement with a maximum diameter of 22.3 mm. Octreotide imaging indicated the presence of a pituitary adenoma. The tumor shrank slightly after three courses of somatostatin analog but without clinical or biochemical remissions, of which the GH nadir value was 9.4 ng/ml, and IGF-1 was elevated to 749 ng/ml. Therefore, she underwent transsphenoidal surgery. Immunohistochemistry showed GH-positive and PRL-positive cells in the pituitary adenoma. Xq26.3 microduplication of the patient’s germline DNA was identified by aCGH. Of all 35 reported cases, females accounted for 71.43%. There were 93.10% and 53.83% patients with hyperprolactinemia and hyperinsulinemia, respectively. Pathology showed that 75.00% of cases were adenomas. Ninety percent of cases had germline variants. The clinical and biochemical remission rates were 78.26% and 82.61%, respectively. However, the rate of complication occurrence during therapy reached 80%.
Conclusion: It is important to recognize the possibility of X-LAG when a child under 2 years old presents overgrowth. Early diagnosis and treatment are of great importance for better treatment efficacy and clinical outcome.
更新日期：2020-10-13
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