Study of Genetic Causes in Inherited Reproductive Disorders Including Early, Delayed, or Abnormal Puberty and Hormonal Issues

What this Trial Is About

Researchers are investigating the genetic basis of inherited reproductive system disorders, focusing especially on conditions related to puberty and hormone regulation. The study aims to better understand idiopathic hypogonadotropic hypogonadism IHH, a rare disorder caused by deficient secretion of gonadotropin-releasing hormone GnRH, which affects sexual development and fertility. This observational study explores a range of related disorders, including early puberty, delayed or absent puberty, and later-life hormonal issues, to uncover how these conditions may be inherited. Participants in this study will provide blood samples for genetic testing and complete questionnaires about their symptoms. They will also undergo a scratch-and-sniff test to assess any issues with their sense of smell. Researchers will review participants medical records and collect detailed family medical histories. Family members of participants, whether affected or unaffected by these conditions, are encouraged to join. No treatments are provided as part of the study. Throughout the study, participants genetic data will be analyzed alongside clinical and biochemical information to identify known and novel genetic variants associated with reproductive disorders. Researchers will look for connections between these genetic findings and the participants health characteristics. The main goal is to deepen understanding of GnRH regulation and its impact on puberty and fertility. Participation involves blood sample collection, questionnaires, and medical record review, with no active intervention. The study is ongoing and exploratory in nature.

Inherited Reproductive Disorders