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Study Description

The purpose of this study is to discover genetic mutations in patients who have GnRH deficient states. This includes individuals with variant forms of hypogonadotropic hypogonadism, including individuals who have somatic anomalies involving mid-line facial defects, renal agenesis, synkinesia, and ataxia, amongst others.

  • Study Types: Probands, Mendelian, Family
  • dbGaP estimated ancestry components using GRAF-pop
  • Number of study subjects that have individual level data available through Authorized Access: 1

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Participants must undergo and physical and laboratory examination to determine their diagnosis. The diagnosis can be aided by the performance of brain imaging, and smell testing. Patients with GnRH deficiency (partial or complete, congenital or adult onset) and their family members are allowed to participate.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Exome Sequencing Agilent SureSelect Human All Exon v.2 Kit N/A N/A
Study History

The Reproductive Endocrine Unit (REU) has a long-standing interest in understanding the biology of GnRH neurons. This neuronal population is key for initiating the pubertal transition and maintaining normal fertility. In order to understand GnRH secretion, investigators within the REU employed genetics approaches in patients with congenital GnRH deficiency to uncover novel pathways associated with GnRH neuronal modulation.

Selected publications
Diseases/Traits Related to Study (MESH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution