BASIS OF COMBINED PITUITARY HORMONE DEFICIENCY

联合垂体激素缺乏症的基础

• 批准号: 2905969
• 负责人: JOY D COGAN
• 金额: $ 18.88万
• 依托单位: VANDERBILT UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-09-15 至 2000-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2905969
• 关键词: clinical research; disease /disorder etiology; endocrine disorder diagnosis; family genetics; gene expression; gene mutation; gene rearrangement; genetic disorder diagnosis; genetic markers; genotype; human subject; linkage disequilibriums; linkage mapping; phenotype; pituitary dwarfism; pituitary hormones; polymerase chain reaction; site directed mutagenesis

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.

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

项目成果

The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.

• DOI: 10.1210/jcem.83.9.5142
• 发表时间: 1998-09
• 期刊: The Journal of clinical endocrinology and metabolism
• 作者: J. Cogan;W. Wu;J. Phillips;I. Arnhold;A. Agapito;O. Fofanova;M. G. Osorio;İ. Bircan;A. Moreno;B. Mendonca

Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.

Pit-1 基因先知中的两个碱基对缺失 (301-302delAG) 导致联合垂体激素缺乏症中促肾上腺皮质激素-肾上腺轴受损。

• DOI: 10.1210/jcem.85.1.6324
• 发表时间: 2000
• 期刊: The Journal of clinical endocrinology and metabolism
• 作者: Pernasetti,F;Toledo,SP;Vasilyev,VV;Hayashida,CY;Cogan,JD;Ferrari,C;LourençoJr,DM;Mellon,PL
• 通讯作者: Mellon,PL

Growth disorders caused by genetic defects in the growth hormone pathway.

由生长激素途径的遗传缺陷引起的生长障碍。

• 发表时间: 1998
• 期刊: Advances in pediatrics.
• 作者: Cogan,JD;Phillips3rd,JA
• 通讯作者: Phillips3rd,JA