Pietzner Vera, Weigel Johannes F W, Wand Dorothea, Merkenschlager Andreas, Bernhard Matthias K
J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):165-70. doi: 10.1515/jpem-2013-0090.
Impaired glucose tolerance and type 2 diabetes are well-known features in patients with Turner syndrome. To the best of our knowledge, there is only one reported case of hyperinsulinemic hypoglycemia associated with a complex mosaic Turner syndrome available in the current literature.
We report on the case of a 13-month-old girl with a complex mosaic Turner genotype and mild hyperinsulinemic hypoglycemia responsive to diazoxide therapy.
Cytogenetic analyses showed two or possibly three cell lines. Sixty percent of the cell lines had a 45,X genotype and the rest had 46,XX with a marker ring chromosome. Diagnosis of a mosaic Turner syndrome and mild Kabuki-like phenotype was confirmed.
Despite the rareness of this case, clinicians should be aware of the possibility of hyperinsulinemic hypoglycemia in patients with Turner syndrome to prevent further brain damage caused by hypoglycemic episodes and seizures. Although the mechanism leading to hyperinsulinism in this condition is still unknown, the present report discusses this rare presentation and gives an overview on the current literature regarding this case.
糖耐量受损和2型糖尿病是特纳综合征患者的常见特征。据我们所知，目前文献中仅报道过1例与复杂嵌合型特纳综合征相关的高胰岛素血症性低血糖症病例。
我们报告了1例13个月大的女孩，她具有复杂的嵌合型特纳基因型，且轻度高胰岛素血症性低血糖症对二氮嗪治疗有反应。
细胞遗传学分析显示有两个或可能三个细胞系。60%的细胞系具有45,X基因型，其余细胞系具有46,XX及一条标记环状染色体。确诊为嵌合型特纳综合征和轻度歌舞伎样表型。
尽管该病例罕见，但临床医生应意识到特纳综合征患者存在高胰岛素血症性低血糖症的可能性，以防止低血糖发作和癫痫发作导致进一步的脑损伤。虽然导致这种情况下高胰岛素血症的机制尚不清楚，但本报告讨论了这种罕见表现，并对当前关于该病例的文献进行了综述。
