Krstevska-Konstantinova Marina, Jovanovska Jana, Tasic Velibor B, Montenegro Luciana Ribeiro, Beneduzzi Daiane, Silveira Leticia F G, Gucev Zoran S
J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):199-201. doi: 10.1515/jpem-2013-0080.
The genetic background of idiopathic central precocious puberty (ICPP) is not well understood. The genetic activation of pubertal onset is thought to arise from the effect of multiple genes. Familial ICPP has been reported suggesting the existence of monogenic causes of ICPP. Kisspeptin and its receptor are found to be involved in gonadotropin-releasing hormone (GnRH) secretion and puberty onset. Mutations in their genes, KISS1 and KISSR, have been suggested to be causative for ICPP.
ICPP was defined by pubertal onset before 8 years of age in girls, and a pubertal luteinizing hormone (LH) response to GnRH testing. Twenty-eight girls with ICPP were included in the study [age at diagnosis was 5.72±2.59, with a mean bone age advancement of 1.4 years (-0.1 to 2.8). Height at onset of therapy in SD score was 0.90±1.48 for age]. Luteinizing hormone-releasing hormone test was performed in all subjects, and all of them had a pubertal response (LH 20.35±32.37 mIU/mL; FSH 23.32±15.72 mIU/mL). The coding regions of KISS1 and KISS1R were sequenced.
No rare variants were detected in KISS1 or KISS1R in the 28 subjects with ICPP.
We confirmed that mutations in KISS1 and KISS1R are not a common cause for ICPP.
特发性中枢性性早熟（ICPP）的遗传背景尚不清楚。青春期启动的遗传激活被认为是由多个基因的作用引起的。有家族性ICPP的报道，提示存在ICPP的单基因病因。发现 kisspeptin及其受体参与促性腺激素释放激素（GnRH）的分泌和青春期启动。有人提出其基因KISS1和KISSR中的突变是ICPP的病因。
ICPP的定义为女孩8岁前青春期启动，以及青春期促黄体生成素（LH）对GnRH检测的反应。28例ICPP女孩纳入研究[诊断时年龄为5.72±2.59岁，平均骨龄提前1.4岁（-0.1至2.8岁）。治疗开始时身高的标准差评分在同龄人中为0.90±1.48]。所有受试者均进行了促黄体生成素释放激素试验，且均有青春期反应（LH 20.35±32.37 mIU/mL；FSH 23.32±15.72 mIU/mL）。对KISS1和KISS1R的编码区进行测序。
28例ICPP受试者的KISS1或KISS1R中未检测到罕见变异。
我们证实KISS1和KISS1R中的突变不是ICPP的常见病因。
