Dr. Pitteloud is a faculty member with Reproductive Endocrine Associates at the Massachusetts General Hospital and an Assistant Professor at Harvard Medical School. Her area of expertise is human reproduction, with a specific focus on male infertility. Her research projects include 1) The genetics of puberty, particularly the role of FGF signaling in GnRH ontogeny, using the human model of GnRH deficiency. In addition, she is interested in studying a model of gene interactions in causing human GnRH deficiency; and 2) the role of the hormone FSH in testicular development and spermatogenesis in the male using GnRH deficient men in whom the onset and timing of pubertal development can be controlled.
Her clinical practice covers the spectrum of reproductive endocrinology-- including polycystic ovarian syndrome, infertility, and menopause. She has expertise in ovulation induction with clomiphene and gonadotropins. As previously described in her research interests, she also has extensive experience in the field of male hypogonadism.
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Selected Publications:
Raivio T, Falardeau J, Dwyer A, Quinton R., Hayes FJ., Pearce S, Cole L, Crowley W.Jr., Pitteloud N. Reversal of Congenital Idiopathic Hypogonadotropic Hypogonadism After Stopping Treatment. 2007, NEJM, Accepted
Pitteloud N, Quinton R., Pearce S., Raivio, T, Acierno J., Dwyer A., Plummer L., Hughes V., Seminara S., Cheng YZ., Li WP., Mac Coll G., Eliseenkova A.V., Olsen SK., Ibrahimi OA., Hayes FJ., Hall J., Bouloux P., Mohammadi M., and Crowley W.Jr. Digenic Mutations Account for Variable Phenotypes and Apparent Incomplete Penetrance: Evidence from Idiopathic Hypogonadotropic Hypogonadism. Journal of Clinical Investigation, 2007, 117; 457-63
Kumar, PA, Pitteloud N (first Co-author), Andrews PA, Dwyer AA, Hayes F, Crowley WF, Dym M. Testis morphology in patients with idiopathic hypogonadotropic hypogonadism. Hum Reprod. 2006; 21: 1033-40
Pitteloud N, Acierno J.S, jr., Meysing A., Eliseenkova A.V., Ma J., Ibrahimi O.A., Metzger D., Hayes F.J., Dwyer A.A., Hughes V.A., Yialamas, M., Hall J.E., Grant E., Mohammadi M., Crowley W.F.Jr. Mutations in FGFR1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. PNAS, 2006, 103, 6281-6.
Pitteloud N., Meysing A., Quinton R., Acierno J.S., jr. , Dwyer A.A., Plummer L., Fliers E., Boepple P., Hayes F, Seminara S, Hughes V.A., Bouloux P., Mohammadi M., Crowley W.F. Jr. Mutations in FGFR1 cause Kallmann syndrome with a wide spectrum of reproductive phenotype. Mol. Cell. Endo. 2006, 60, 254-255
Pitteloud N, Hardin M, Dwyer AA, Valassi E, Yialamas M, Elahi D, Hayes FJ. Increasing insulin resistance is associated with a decrease in leydig cell testosterone secretion in men. J Clin Endocrinol Metab. 2005 May;90(5):2636-41.
Pitteloud N, Acierno JS Jr, Meysing AU, Dwyer AA, Hayes FJ, Crowley WF Jr. Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. J Clin Endocrinol Metab. 2005 Mar;90(3):1317-22.
Pitteloud N, Hayes FJ, Boepple PA, DeCruz S, Seminara SB, MacLaughlin DT, Crowley WF, Jr. The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab 2002; 87:152-160
Pitteloud N, Hayes FJ, Dwyer A, Crowley, WF Jr, Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab 2002; 87:4128.
Pitteloud N, Boepple PA, DeCruz S, Valkenburgh SB, Crowley WF,Jr, Hayes FJ. The Fertile Eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the GnRH receptor. J Clin Endocrinol Metab 2001, 86:2470-2475
