Overview - This Core lies at the very heart of our Center which is relatively unique in its use of various human disease models involving abnormalities of GnRH secretion. Our Center's central vision is that patients with isolated GnRH deficiency [nIHH or KS] and other more common reproductive disorders such as delayed and precocious puberty and hypothalamic amenorrhea represent unique opportunities to define the genetic control of GnRH in the human. Consequently, the recruitment, phenotyping, genotyping, and cataloguing of data from individuals with these disorders are chronicled and entered into our relational database (Progeny) for ongoing investigations foundational to our Center. Consequently, this Core's skilled, stable, well-trained, and multidisciplinary staff are all crucial and dedicated to these longterm programmatic goals. Over the past grant cycle, there has also been a marked increase in regulatory compliance that has fallen to this Core and the Administrative Core's joint responsibilities. Consequently, rising IRB maintenance of approvals/reapprovals, data encryption, and HIPAA compliance have increased the transactional burdens that fall to our Center. Nonetheless, given the relatively high impact of the results of these approaches on the field of reproduction and our unique ability to provide insights directly relevant to the human, we remain committed to the importance of this approach and the efficient functioning of this Core. Clearly, as the number of our DNAs, informed consents, families, and phenotyping data rise, this Core's logistical functions become more important. In addition, the amount of sequencing data, particularly as we enter into the era of full exonic and the genomic sequence, having such a well organized and smoothly running Core is foundational to our Center's vision and function. This is why we have been extraordinarily fortunate to have recruited and retained talented interdisciplinary personnel to its staffing.

National Institute of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Specialized Center--Cooperative Agreements (U54)
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Special Emphasis Panel (ZHD1-DSR-L)
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Massachusetts General Hospital
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Sidhoum, Valerie F; Chan, Yee-Ming; Lippincott, Margaret F et al. (2014) Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system. J Clin Endocrinol Metab 99:861-70
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Macedo, Delanie B; Abreu, Ana Paula; Reis, Ana Claudia S et al. (2014) Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. J Clin Endocrinol Metab 99:E1097-103
Beneduzzi, Daiane; Trarbach, Ericka B; Min, Le et al. (2014) Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay. Fertil Steril 102:838-846.e2

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