The Genetics of Neuroendocrine Reproductive Disorders and of the Cleft Lip and/or Palate

What this Trial Is About

Researchers are investigating the genetic causes of reproductive disorders such as hypogonadotropic hypogonadism and Kallmann syndrome, as well as cleft lip and/or palate. These conditions affect puberty, sexual maturation, and fertility, and may share genetic links. The study aims to deepen understanding of the genetic control of puberty and reproduction, and how these relate to cleft lip and palate, with hopes to improve diagnosis, treatment, and counseling for affected individuals and families. Participants with reproductive disorders, with or without cleft lip/palate, and their family members will be enrolled. Patients will complete medical questionnaires, provide family history, and have various specimens collected including blood, saliva, urine, hair follicles, sperm, or skin biopsies. They will also undergo tests such as smell and hearing assessments, bone density scans, brain MRI, and ultrasounds of kidney and reproductive organs. Family members will also provide questionnaires, samples, and undergo smell testing. During the study, researchers will analyze genetic variants and their function, inheritance patterns, and how these relate to physical traits. The main outcome is identifying rare genetic sequence variants. Participants will be monitored for about one year following variant identification. The study includes ongoing assessments of family history, clinical features, and biological samples to better understand these inherited conditions and their impact.

Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate