Research Topics
Genomes and Genes | N PitteloudSummaryAffiliation: Massachusetts General Hospital Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptorN 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...
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadismNelly 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...- Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypesNelly 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.... - Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadismNelly 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... - Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 geneNelly 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.... 
Complex genetics in idiopathic hypogonadotropic hypogonadismNelly 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...- Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadismNelly 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.... - Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadismNelly 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... - Oligogenic basis of isolated gonadotropin-releasing hormone deficiencyGerasimos 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.... - Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neuronsRavikumar 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... - Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrumLindsay 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... - Reversal of idiopathic hypogonadotropic hypogonadismTaneli 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... - Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testesGerasimos 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... - New genes controlling human reproduction and how you find themWilliam 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... - Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadismTaneli 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... - Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadismM 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.... - Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturationNelly 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... - Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and miceJohn 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... - Importance of inhibin B in the regulation of FSH secretion in the human maleF 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... - The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutationsCecilia 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.... - Expanding the phenotype and genotype of female GnRH deficiencyNatalie 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... - Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54J 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... - Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadismFelecia Cerrato
Reproductive Endocrine Unit, Massachusetts General Hospital BHX 504, Fruit Street, Boston, Massachusetts 02114, USA
Eur J Endocrinol 155:S3-S10. 2006..Twenty-four rare variants were identified in GNRHR (within 15 probands) and seven rare variants in GPR54 (within five probands). CONCLUSIONS: Rare variants in GNRHR are more common than GPR54 in a nIHH population... - The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadismNelly 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... - The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadismAndrew 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... - Acute sex steroid withdrawal reduces insulin sensitivity in healthy men with idiopathic hypogonadotropic hypogonadismMaria 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... - GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadismYee 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... - 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 menNelly 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... - Deciphering genetic disease in the genomic era: the model of GnRH deficiencyGerasimos P Sykiotis
Harvard Reproductive Endocrine Sciences Center, Massachusetts General Hospital, Boston, MA 02114, USA
Sci Transl Med 2:32rv2. 2010.... - Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptorNelly 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... - Increasing insulin resistance is associated with a decrease in Leydig cell testosterone secretion in menNelly 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... - The relative role of gonadal sex steroids and gonadotropin-releasing hormone pulse frequency in the regulation of follicle-stimulating hormone secretion in menNelly 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... - Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in menNelly Pitteloud
Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA
Diabetes Care 28:1636-42. 2005.... - Testis morphology in patients with idiopathic hypogonadotropic hypogonadismPananghat A Kumar
Department of Cell Biology, Georgetown University Medical Center, Washington, DC 20057, USA
Hum Reprod 21:1033-40. 2006..Therefore, the immature testis of this IHH subset resembles those of prepubertal boys and may provide important biologic and genetic insights into testicular development...
Research Grants
- Modulation of Insulin Action by Testosterone in MenNelly 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. ..
- The role of FGF signaling in neuroendocrine control of reproductionNelly 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. ..
- Modulation of Insulin Action by Testosterone in MenNelly 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. ..
- The role of FGF signaling in neuroendocrine control of reproductionNelly 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. ..