Clinical Trial

Genetics of Delayed Puberty/ Genes Important in Puberty, Genetics of Infertility and Medical Illness

A genetic component exists for most forms of human disease, including many different abnormalities affecting pubertal development and fertility in men and women. Through these efforts, we hope to identify genetic causes of delayed puberty and infertility. The aims of these long-term studies include: (1) To collect a sufficient sample of DNAs and lymphoblastoid cell lines on patients with pubertal delay, premature ovarian failure, ovulation disorders, impaired spermatogenesis, infertility, and recurrent abortion. (2) To characterize the clinical phenotype and perform pedigree analysis on families with these disorders. (3) To identify molecular defect(s) causing any or all of these disorders. We will test candidate genes for linkage and linkage disequilibrium, and perform mutation screening of putative disease genes. If balanced chromosomal rearrangements are identified, the breakpoints will be narrowed to map the disrupted gene. (4) To enroll unaffected controls, particularly unaffected family members, which are necessary for linkage analysis. (5) If mutations are identified, to assess their effect in vitro, if possible.

• Breast
• Endocrine System
• Female Reproductive System
• Male Reproductive System
• Nose
• Pituitary
• Reproductive Tract - Female
• Reproductive Tract - Male
• Anosmia
• Delayed Puberty
• Genetics
• IHH
• Infertility
• Kallman Syndrome