Krstevska-Konstantinova Marina, Tasic Velibor B, Montenegro Luciana Ribeiro, Dervisov Donco, Beneduzzi Daiane, Gontijo Silveira Leticia F, Gucev Zoran S
Medical Faculty, Skopje, R. Macedonia.
Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):129-32.
The genetic background of idiopathic central precocious puberty (ICPP) is not well understood, and is thought to arise from the effect of multiple genes. Familial ICPP have been reported suggesting the existence of monogenic causes of ICPP. The neurokinin B (NKB) system has recently been implicated in the regulation of the human reproductive axis. In humans, NKB and its receptor are encoded by the TAC3 and TACR3 genes, respectively. Mutations in these genes have been suggested to be causative for ICPP.
ICPP was defined by pubertal onset before 8 yrs of age in girls, and a pubertal LH response to GnRH testing. Twenty eight girls with ICPP were included in the study (age at diagnosis was 5.72±2.59; bone age, 6.12±2.81, height at the start of treatment, 0.90±1.48 SD). LHRH test was performed and was pubertal in all subjects (LH 20.35±32.37 mIU/ml; FSH 23.32±15.72 mIU/ml). The coding regions of TAC and TACR3 were sequenced.
No rare variants were detected in TAC and TACR3 in the 28 subjects with ICPP.
We confirmed that mutations in TAC and TACR3 are not a common cause for ICPP.
特发性中枢性性早熟（ICPP）的遗传背景尚未完全明确，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。神经激肽B（NKB）系统最近被认为参与人类生殖轴的调节。在人类中，NKB及其受体分别由TAC3和TACR3基因编码。这些基因的突变被认为是ICPP的病因。
ICPP的定义为女孩8岁前青春期开始，以及青春期促黄体生成素（LH）对促性腺激素释放激素（GnRH）试验的反应。28名ICPP女孩纳入研究（诊断时年龄为5.72±2.59岁；骨龄6.12±2.81岁，治疗开始时身高0.90±1.48标准差）。进行了促性腺激素释放激素（LHRH）试验，所有受试者均呈青春期反应（LH 20.35±32.37 mIU/ml；FSH 23.32±15.72 mIU/ml）。对TAC3和TACR3的编码区进行测序。
28例ICPP受试者的TAC3和TACR3未检测到罕见变异。
我们证实TAC3和TACR3的突变不是ICPP的常见病因。
