N Pitteloud

Summary

Affiliation: Massachusetts General Hospital
Country: USA

Publications

  1. ncbi The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor
    N Pitteloud
    Reproductive Endocrine Unit of the Department of Medicine and National Center for Infertility Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 86:2470-5. 2001
  2. pmc Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
    Nelly Pitteloud
    Department of Medicine and Harvard Reproductive Endocrine Science Centers, Massachusetts General Hospital, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 104:17447-52. 2007
  3. ncbi Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes
    Nelly Pitteloud
    Reproductive Endocrine Unit of the Department of Medicine and National Center for Infertility Research, Bartlett Hall Extension 5, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, United States
    Mol Cell Endocrinol 254:60-9. 2006
  4. pmc Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
    Nelly Pitteloud
    Reproductive Endocrine Unit of the Department of Medicine and Harvard Reproductive Endocrine Science Centers, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Invest 117:457-63. 2007
  5. ncbi Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene
    Nelly Pitteloud
    Reproductive Endocrine Unit and National Center for Infertility Research, Bartlett Hall Extension 5, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 90:1317-22. 2005
  6. doi Complex genetics in idiopathic hypogonadotropic hypogonadism
    Nelly Pitteloud
    Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Mass 02114, USA
    Front Horm Res 39:142-53. 2010
  7. ncbi Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism
    Nelly Pitteloud
    Reproductive Endocrine Unit of the Department of Medicine, National Center for Infertility Research, General Clinical Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 87:4128-36. 2002
  8. pmc Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
    Nelly Pitteloud
    Reproductive Endocrine Unit of the Department of Medicine and Harvard Reproductive Endocrine Science Centers, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 103:6281-6. 2006
  9. pmc Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
    Gerasimos P Sykiotis
    Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 107:15140-4. 2010
  10. pmc Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons
    Ravikumar Balasubramanian
    Harvard Reproductive Endocrine Sciences Center of Excellence, Reproductive Endocrine Unit of the Department of Medicine of the Massachusetts General Hospital and Endocrine Division of the Brigham and Women s Hospital, Boston, MA 02114, USA
    Neuroendocrinology 92:81-99. 2010

Collaborators

Detail Information

Publications34

  1. ncbi The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor
    N Pitteloud
    Reproductive Endocrine Unit of the Department of Medicine and National Center for Infertility Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 86:2470-5. 2001
    ..This case thus expands the emerging clinical spectrum of GnRH-R mutations, provides the first genetic basis for the fertile eunuch variant of IHH and documents the occurrence of reversible IHH in a patient with a GnRH-R mutation...
  2. pmc Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
    Nelly Pitteloud
    Department of Medicine and Harvard Reproductive Endocrine Science Centers, Massachusetts General Hospital, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 104:17447-52. 2007
    ..Homozygous loss-of-function PROK2 mutations cause both KS and nIHH...
  3. ncbi Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes
    Nelly Pitteloud
    Reproductive Endocrine Unit of the Department of Medicine and National Center for Infertility Research, Bartlett Hall Extension 5, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, United States
    Mol Cell Endocrinol 254:60-9. 2006
    ....
  4. pmc Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
    Nelly Pitteloud
    Reproductive Endocrine Unit of the Department of Medicine and Harvard Reproductive Endocrine Science Centers, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Invest 117:457-63. 2007
    ..Therefore, 2 different gene defects can synergize to produce a more severe phenotype in IHH families than either alone. This genetic model could account for some phenotypic heterogeneity seen in GnRH deficiency...
  5. ncbi Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene
    Nelly Pitteloud
    Reproductive Endocrine Unit and National Center for Infertility Research, Bartlett Hall Extension 5, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 90:1317-22. 2005
    ....
  6. doi Complex genetics in idiopathic hypogonadotropic hypogonadism
    Nelly Pitteloud
    Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, Mass 02114, USA
    Front Horm Res 39:142-53. 2010
    ..Future investigations of IHH should characterize the extent of the involvement of multiple genes in disease pathogenesis, and elucidate the contributions of epigenetic factors...
  7. ncbi Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism
    Nelly Pitteloud
    Reproductive Endocrine Unit of the Department of Medicine, National Center for Infertility Research, General Clinical Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 87:4128-36. 2002
    ....
  8. pmc Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
    Nelly Pitteloud
    Reproductive Endocrine Unit of the Department of Medicine and Harvard Reproductive Endocrine Science Centers, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 103:6281-6. 2006
    ..These mutations also account for some of the mixed pedigrees, thus challenging the current idea that KS and nIHH are distinct entities...
  9. pmc Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
    Gerasimos P Sykiotis
    Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 107:15140-4. 2010
    ....
  10. pmc Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons
    Ravikumar Balasubramanian
    Harvard Reproductive Endocrine Sciences Center of Excellence, Reproductive Endocrine Unit of the Department of Medicine of the Massachusetts General Hospital and Endocrine Division of the Brigham and Women s Hospital, Boston, MA 02114, USA
    Neuroendocrinology 92:81-99. 2010
    ..These insights now provide practicing clinicians with targeted genetic diagnostic strategies and also impact on clinical management...
  11. pmc Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum
    Lindsay W Cole
    Reproductive Endocrine Unit of the Department of Medicine, Harvard Reproductive Endocrine Sciences Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 93:3551-9. 2008
    ..Mice deficient in prokineticin 2(PROK2) and prokineticin receptor2 (PROKR2) exhibit variable olfactory bulb dysgenesis and GnRH neuronal migration defects reminiscent of human GnRH deficiency...
  12. ncbi Reversal of idiopathic hypogonadotropic hypogonadism
    Taneli Raivio
    Harvard Center for Reproductive Endocrine Sciences and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston 02114, USA
    N Engl J Med 357:863-73. 2007
    ..Idiopathic hypogonadotropic hypogonadism was previously thought to require lifelong therapy. We describe 15 men in whom reversal of idiopathic hypogonadotropic hypogonadism was sustained after discontinuation of hormonal therapy...
  13. pmc Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes
    Gerasimos P Sykiotis
    Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 95:3019-27. 2010
    ..Interestingly, several IHH-associated genes are expressed in multiple compartments of the hypothalamic-pituitary-gonadal axis...
  14. pmc New genes controlling human reproduction and how you find them
    William F Crowley
    Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Trans Am Clin Climatol Assoc 119:29-37; discussion 37-8. 2008
    ..This paper discusses several of the more important discoveries in this rapidly evolving field and puts them into a developmental and physiologic context...
  15. pmc Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism
    Taneli Raivio
    Reproductive Endocrine Unit, Department of Medicine, The Harvard Center for Reproductive Endocrine Sciences, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 94:4380-90. 2009
    ..FGFR1 mutations have been identified in about 10% of patients with Kallmann syndrome. Recently cases of idiopathic hypogonadotropic hypogonadism (IHH) with a normal sense of smell (nIHH) have been reported...
  16. ncbi Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism
    M Beranova
    Reproductive Endocrine Unit, Harvard-wide Reproductive Endocrine Sciences Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 86:1580-8. 2001
    ....
  17. pmc Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation
    Nelly Pitteloud
    Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit of the Department of Medicine, Boston, MA 02114, USA
    Neuroendocrinology 90:260-8. 2009
    ..This study aimed to elucidate this phenomenon using a human disease model of GnRH deficiency (idiopathic hypogonadotropic hypogonadism, IHH) in which GnRH input can be experimentally controlled...
  18. pmc Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
    John Falardeau
    Harvard Center for Reproductive Endocrine Sciences and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital MGH, Boston, Massachusetts 02114, USA
    J Clin Invest 118:2822-31. 2008
    ..In conclusion, we identified FGF8 as a gene implicated in GnRH deficiency in both humans and mice and demonstrated an exquisite sensitivity of GnRH neuron development to reductions in FGF8 signaling...
  19. ncbi Importance of inhibin B in the regulation of FSH secretion in the human male
    F J Hayes
    Reproductive Endocrine Unit, Department of Medicine, and National Center for Infertility Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 86:5541-6. 2001
    ..9 +/- 2.0 vs. 66.8 +/- 20.1 IU/liter; P < 0.005). From this human model of acute sex steroid withdrawal, we conclude that Inh B is likely to be the major feedback regulator of FSH secretion in the human male...
  20. pmc The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations
    Cecilia Martin
    Harvard Center for Reproductive Endocrine Sciences, Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, 02114, USA
    Endocr Rev 32:225-46. 2011
    ....
  21. pmc Expanding the phenotype and genotype of female GnRH deficiency
    Natalie D Shaw
    Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Reproductive Endocrine Sciences Center, Harvard Medical School, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 96:E566-76. 2011
    ..GnRH deficiency is a rare genetic disorder of absent or partial pubertal development. The clinical and genetic characteristics of GnRH-deficient women have not been well-described...
  22. ncbi Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54
    J Carl Pallais
    Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, United States
    Mol Cell Endocrinol 254:70-7. 2006
    ..Taken together, these observations help to tease apart the neuroendocrine and gonadal phenotypes of patients bearing mutations in GPR54...
  23. ncbi Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism
    Felecia Cerrato
    Reproductive Endocrine Unit, Massachusetts General Hospital BHX 504, Fruit Street, Boston, Massachusetts 02114, USA
    Eur J Endocrinol 155:S3-S10. 2006
    ....
  24. ncbi The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism
    Nelly Pitteloud
    Reproductive Endocrine Unit, Department of Medicine, National Center for Infertility Research, Pediatric Surgical Research Laboratory, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 87:152-60. 2002
    ..Viewing IHH in the full context of its developmental, genetic, and biochemical complexity permits greatest insight into its phenotypic variability...
  25. pmc The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism
    Andrew A Dwyer
    Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit of Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 95:4235-43. 2010
    ..This study aims to examine the etiology and long-term natural history of this disorder...
  26. ncbi Acute sex steroid withdrawal reduces insulin sensitivity in healthy men with idiopathic hypogonadotropic hypogonadism
    Maria A Yialamas
    Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Bartlett Hall Extension 511, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 92:4254-9. 2007
    ..Evidence suggests that testosterone (T) influences insulin sensitivity in men. The mechanism of this effect is unclear but is thought to involve changes in body composition...
  27. pmc GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism
    Yee Ming Chan
    Harvard Reproductive Sciences Center and Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 106:11703-8. 2009
    ..Our results establish mutations in GNRH1 as a genetic cause of nIHH...
  28. pmc Inhibition of luteinizing hormone secretion by testosterone in men requires aromatization for its pituitary but not its hypothalamic effects: evidence from the tandem study of normal and gonadotropin-releasing hormone-deficient men
    Nelly Pitteloud
    Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 93:784-91. 2008
    ..Studies on the regulation of LH secretion by sex steroids in men are conflicting...
  29. doi Deciphering genetic disease in the genomic era: the model of GnRH deficiency
    Gerasimos P Sykiotis
    Harvard Reproductive Endocrine Sciences Center, Massachusetts General Hospital, Boston, MA 02114, USA
    Sci Transl Med 2:32rv2. 2010
    ....
  30. ncbi Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor
    Nelly Pitteloud
    Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 89:1053-8. 2004
    ..This case highlights the necessity for caution when interpreting gonadotropin levels during acute stress...
  31. ncbi Increasing insulin resistance is associated with a decrease in Leydig cell testosterone secretion in men
    Nelly Pitteloud
    Reproductive Endocrine Unit, BHX 511, Massachusetts General Hospital, 55 Fruit Street, Boston, Massachusetts 02114, USA
    J Clin Endocrinol Metab 90:2636-41. 2005
    ..05). From these data we conclude that insulin resistance is associated with a decrease in Leydig cell T secretion in men. Additional studies are required to determine the mechanism of this effect...
  32. pmc The relative role of gonadal sex steroids and gonadotropin-releasing hormone pulse frequency in the regulation of follicle-stimulating hormone secretion in men
    Nelly Pitteloud
    Reproductive Endocrine Unit, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA
    J Clin Endocrinol Metab 93:2686-92. 2008
    ..Our objective was to determine the importance of testosterone (T), estradiol (E(2)), and GnRH pulse frequency to FSH regulation in men...
  33. ncbi Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men
    Nelly Pitteloud
    Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    Diabetes Care 28:1636-42. 2005
    ..The goal of this study was to examine the relationship between serum testosterone levels and insulin sensitivity and mitochondrial function in men...
  34. ncbi Testis morphology in patients with idiopathic hypogonadotropic hypogonadism
    Pananghat A Kumar
    Department of Cell Biology, Georgetown University Medical Center, Washington, DC 20057, USA
    Hum Reprod 21:1033-40. 2006
    ..The objective of this study was to determine the structure of the testis prior to initiation of treatment...

Research Grants7

  1. Modulation of Insulin Action by Testosterone in Men
    Nelly Pitteloud; Fiscal Year: 2009
    ..Therefore, if low T levels are shown to play a role in the pathogenesis of insulin resistance, T may well represent an important therapeutic modality for both preventing and treating the metabolic syndrome and type 2 diabetes in men. ..
  2. The role of FGF signaling in neuroendocrine control of reproduction
    Nelly Pitteloud; Fiscal Year: 2009
    ..In general terms, the focus of this project is to explore the genetic causes of reproductive conditions and will provide a foundation for understanding, diagnosing, and genetic counseling of these disorders. ..
  3. The role of FGF signaling in neuroendocrine control of reproduction
    Nelly Pitteloud; Fiscal Year: 2010
    ..In general terms, the focus of this project is to explore the genetic causes of reproductive conditions and will provide a foundation for understanding, diagnosing, and genetic counseling of these disorders. ..
  4. Modulation of Insulin Action by Testosterone in Men
    Nelly Pitteloud; Fiscal Year: 2010
    ..Therefore, if low T levels are shown to play a role in the pathogenesis of insulin resistance, T may well represent an important therapeutic modality for both preventing and treating the metabolic syndrome and type 2 diabetes in men. ..
  5. The role of FGF signaling in neuroendocrine control of reproduction
    Nelly Pitteloud; Fiscal Year: 2009
    ..In general terms, the focus of this project is to explore the genetic causes of reproductive conditions and will provide a foundation for understanding, diagnosing, and genetic counseling of these disorders. ..