Genotype-Phenotype and Radiological Correlation of Idiopathic Hypogonadotropic Hypogonadism
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- Help in understanding the genetic basis of the disorder in Indian patients with IHH. Genetic counseling of the first degree relatives
研究概览
简要总结
Hypogonadotrophic hypogonadism (HH) is a disorder of the hypothalamo-pituitary-gonadal (HPG) axis, manifesting as complete or partial failure of pubertal development. A developmental defect of the hypothalamus involving the GnRH pulse generator and/or the gonadotropes without an anatomic lesion causes the selective deficiency of gonadotropins, isolated hypogonadotropic hypogonadism (IHH)
IHH is classified into two types on the basis of the presence or absence of normal sense of smell. Hyposmic/ Anosmic HH is due to abnormalities in KAL1, FGFR1, PROKR2, NELF, FGF8 and CHD7 genes whereas normosmic HH is due to defects in GnRHR, KISS1R, TAC3, TACR3, DAX1, snRNP, gonadotropin β subunits, leptin and leptin receptor gene and as yet to be discovered genes.
However, no data is available for the Indian population. The current study aims to find the genotype, phenotype correlation of KAL1, FGFR1, GnRHR and KiSS1R in Asian Indian HH patients and their first degree relatives.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 10.00 Year(s) 至 50.00 Year(s)（—）
- 性别
- All
入选标准
- •Subjects presenting with poor secondary sexual characteristics with a) Low Testosterone /Low Estradiol b) Low or inappropriately normal FSH, c) Low or inappropriately normal LH.
排除标准
- •Patient with HH due to
- •Infiltrative/Inflammatory disorders
- •Radiation
- •Post surgery
- •Combined pituitary hormone deficiency.
结局指标
主要结局
Help in understanding the genetic basis of the disorder in Indian patients with IHH. Genetic counseling of the first degree relatives
时间窗: 5 years
次要结局
- The information so obtained will be used to construct a practical and cost-effective flow-chart for genetic testing and counseling in Indian patients.(5 years)