BASIS OF COMBINED PITUITARY HORMONE DEFICIENCY

描述（改编自申请人摘要）：侏儒症 III型或合并垂体激素缺乏症（CPHD）的发病率为 约8,000个新生儿中的1个。 受影响的个体有生长障碍，延迟或 第二性征发育不全伴不孕，寿命缩短 与垂体前叶缺陷相关的预期和特征 促生长激素包括生长激素（GH）、TSH、LH、FSH、PRL和ACTH。 总的目标是：1）确定基因的产物所需的 正常的垂体发育和垂体功能的维持; 2） 确定这些基因的等位基因变异，导致CPHD和 躯体和第二性征发育的相关障碍， 正常的垂体发育和维持其功能。 实现 这些目标，调查人员计划1）确定人类的位置 通过基因组作图确定CPHD基因座或基因座，2）鉴定用于 CPHD基因和3）确定CPHD基因中的等位基因缺陷 会导致遗传性垂体前叶激素缺乏

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.