BASIS OF COMBINED PITUITARY HORMONE DEFICIENCY

描述(摘自申请者的摘要)：垂体型侏儒症 III型或复合性垂体激素缺乏症(CPHD)的发病率为 ~八万分之一的新生儿。受影响的个人有发育障碍、延迟或 伴不孕症、寿命缩短的不完全二级性发育 与垂体前叶缺陷相关的期望值和特征 促性腺激素包括生长激素、促甲状腺激素、促黄体生成素、卵泡刺激素、催乳素和促肾上腺皮质激素。 总的目标是：1)确定需要哪些基因的产物 正常的垂体发育和垂体功能的维持2) 确定导致慢性阻塞性肺疾病的这些基因的等位基因变异 干扰导致的躯体发育和二级性发育障碍 正常的脑下垂体发育和维持其功能。要实现 调查人员计划通过这些目标1)确定人类的位置 通过基因组作图确定一个或多个CPHD基因座，2)确定位置候选 Cpd基因(S)和3)决定cpd基因的等位基因缺陷(S) 这会导致垂体前叶促性腺激素的遗传性缺陷。

DESCRIPTION (Adapted from the applicant's abstract): Pituitary dwarfism type III or combined pituitary hormone deficiency (CPHD) has an incidence of ~one/8,000 births. Affected individuals have growth failure, delayed or incomplete secondary sexual development with infertility, shortened life expectancy and features associated with deficiencies of anterior pituitary tropic hormones including growth hormone (GH), TSH, LH, FSH, PRL and ACTH. The overall goals are to 1) identify genes whose products are required for normal pituitary development and maintenance of pituitary function and 2) determine the allelic variations of these genes that cause CPHD and the associated failure of somatic and secondary sexual development by perturbing normal pituitary development and maintenance of its function. To achieve these goals the investigator plans to 1) determine the location of the human CPHD locus or loci by genomic mapping, 2) identify positional candidates for the CPHD gene(s) and 3) determine the allelic defects in the CPHD gene(s) that cause inherited deficiencies of anterior pituitary tropic hormones.