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Ana Paula De Abreu E Silva Metzger, Ph.D., M.D.

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The Endocrine Society Travel Grant
Young Investigator Award, Symposium International of Neuroendocrine, SINE
European Science School Travel Grant
Janet W. McArthur Award for Excellence in Clinical Research
F05 International Neuroscience Award
Capes Thesis Award - Honorable Mention in Medicine
Featured in the Women in Medicine and Science Symposium
Research Excellence Award – Brigham and Women’s Hospital Research Day
Neurosciences Interdisciplinary Mini-Retreat
The Endocrine Society Outstanding Abstract Award
The Henning Andersen Prizes
Early Investigators Awards
Oral Abstract Award in Reproductive Science

I am a physician scientist seeking to better understand the mechanisms involved in the control of the reproductive axis and pubertal initiation with a particular focus on the genetics of pubertal disorders. I completed my medical school, residency and endocrinology fellowship training in Brazil and went on to receive my PhD from the University of São Paulo, Brazil, under the mentorship of Dr. Ana Claudia Latronico. During my Ph.D. training, I focused on the study of mutations of the G-protein coupled receptor PROKR2 and its ligand PROK2 in patients with hypogonadotropic hypogonadism and how mutations in PROKR2 affect receptor function, seeking to expand knowledge about the physiology of this receptor. I have also been involved in studies to investigate how mutations in KISS1 and TACR3 genes are involved in GnRH regulation. More recently, in a collaborative study we identified novel loss-of-function variants in a new gene associated with central precocious puberty, MKRN3. This gene is the first imprinted gene associated with central precocious puberty and the most common genetic cause of this disorder identified so far. The understanding of the etiology of neuroendocrine reproductive disorders is evolving, but there are still many unknown genes and/or networks that are required for normal neuroendocrine control of reproductive development and function. Therefore, this field presents many new and interesting opportunities for additional research.

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Abreu AP, Macedo DB, Brito VN, Kaiser UB, Latronico AC. A new pathway in the control of the initiation of puberty: the MKRN3 gene. J Mol Endocrinol. 2015 Jun; 54(3):R131-9. PMID: 25957321; PMCID: PMC4573396.
    Citations: 43     Fields:    Translation:HumansAnimalsCells
  2. Correa FA, Trarbach EB, Tusset C, Latronico AC, Montenegro LR, Carvalho LR, Franca MM, Otto AP, Costalonga EF, Brito VN, Abreu AP, Nishi MY, Jorge AA, Arnhold IJ, Sidis Y, Pitteloud N, Mendonca BB. FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. Endocr Connect. 2015 Jun; 4(2):100-7. PMID: 25759380; PMCID: PMC4401104.
    Citations: 11     
  3. Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, Moreira AC, Martinelli CE, Hirschhorn JN, Mendonca BB, Brito VN, Antonini SR, Kaiser UB, Latronico AC. 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. 2014 Jun; 99(6):E1097-103. PMID: 24628548; PMCID: PMC4037732.
    Citations: 50     Fields:    Translation:Humans
  4. Noel SD, Abreu AP, Xu S, Muyide T, Gianetti E, Tusset C, Carroll J, Latronico AC, Seminara SB, Carroll RS, Kaiser UB. TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients. FASEB J. 2014 Apr; 28(4):1924-37. PMID: 24376026.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  5. Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB. Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med. 2013 Jun 27; 368(26):2467-75. PMID: 23738509; PMCID: PMC3808195.
    Citations: 151     Fields:    Translation:HumansAnimals
  6. Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF, Pitteloud N. An ancient founder mutation in PROKR2 impairs human reproduction. Hum Mol Genet. 2012 Oct 01; 21(19):4314-24. PMID: 22773735; PMCID: PMC3441126.
    Citations: 11     Fields:    Translation:Humans
  7. Abreu AP, Noel SD, Xu S, Carroll RS, Latronico AC, Kaiser UB. Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function. Mol Endocrinol. 2012 Aug; 26(8):1417-27. PMID: 22745195.
    Citations: 20     Fields:    Translation:HumansAnimalsCells
  8. Abreu AP, Kaiser UB, Latronico AC. The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism. Neuroendocrinology. 2010; 91(4):283-90. PMID: 20502053.
    Citations: 11     Fields:    Translation:HumansAnimals
  9. Trarbach EB, Abreu AP, Silveira LF, Garmes HM, Baptista MT, Teles MG, Costa EM, Mohammadi M, Pitteloud N, Mendonca BB, Latronico AC. Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency. J Clin Endocrinol Metab. 2010 Jul; 95(7):3491-6. PMID: 20463092; PMCID: PMC3213864.
    Citations: 30     Fields:    Translation:Humans
  10. Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonça BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB. TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab. 2010 Jun; 95(6):2857-67. PMID: 20332248; PMCID: PMC2902066.
    Citations: 109     Fields:    Translation:HumansAnimalsCells
  11. Trarbach EB, Teles MG, Costa EM, Abreu AP, Garmes HM, Guerra G, Baptista MT, de Castro M, Mendonca BB, Latronico AC. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. Clin Endocrinol (Oxf). 2010 Mar; 72(3):371-6. PMID: 19489874.
    Citations: 12     Fields:    Translation:Humans
  12. Abreu AP, Trarbach EB, de Castro M, Frade Costa EM, Versiani B, Matias Baptista MT, Garmes HM, Mendonca BB, Latronico AC. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. J Clin Endocrinol Metab. 2008 Oct; 93(10):4113-8. PMID: 18682503.
    Citations: 47     Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.