Physician

Endocrinology

Nelly Pitteloud works in the field of Endocrinology. Dr. Nelly Pitteloud has written publications. She has 62 publications published with PubMed. The lastest paper is: 'Ketoacidosis during gestational diabetes. Case report.'

Publications

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• FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
• Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
• Absence of Central Circadian Pacemaker Abnormalities in Humans With Loss of Function Mutation in Prokineticin 2.
• Trial of Recombinant Follicle Stimulating Hormone (rFSH) Pre-treatment for GnRH-induced Fertility in Patients with Congenital Hypogonadotropic Hypogonadism.
• Prioritizing genetic testing in patients with kallmann syndrome using clinical phenotypes.
• Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism.
• Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.
• Reversal and Relapse of Hypogonadotropic Hypogonadism: Resilience and Fragility of the Reproductive Neuroendocrine System.
• Abrupt Decrease in Serum Testosterone Levels After an Oral Glucose Load in Men: Implications for Screening for Hypogonadism.
• When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR).
• Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions ...
• Testis morphology in patients with idiopathic hypogonadotropic hypogonadism.
• Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
• Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.
• Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
• Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
• Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
• Acute sex steroid withdrawal reduces insulin sensitivity in healthy men with idiopathic hypogonadotropic hypogonadism.
• Reversal of idiopathic hypogonadotropic hypogonadism.
• Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
• Inhibition of luteinizing hormone secretion by testosterone in men requires aromatization for its pituitary but not its hypothalamic effects: evidence from the tandem ...
• Relative roles of inhibin B and sex steroids in the negative feedback regulation of follicle-stimulating hormone in men across the full spectrum of seminiferous epithe...
• The relative role of gonadal sex steroids and gonadotropin-releasing hormone pulse frequency in the regulation of follicle-stimulating hormone secretion in men.
• Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
• New genes controlling human reproduction and how you find them.
• Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
• A crystallographic snapshot of tyrosine trans-phosphorylation in action.
• GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.
• Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
• Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation.
• Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.
• Complex genetics in idiopathic hypogonadotropic hypogonadism.
• Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
• Deciphering genetic disease in the genomic era: the model of GnRH deficiency.
• The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism.
• Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
• Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
• The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.
• Expanding the phenotype and genotype of female GnRH deficiency.
• A genetic basis for functional hypothalamic amenorrhea.
• Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory.
• Estradiol levels in men with congenital hypogonadotropic hypogonadism and the effects of different modalities of hormonal treatment.
• The puzzles of the prokineticin 2 pathway in human reproduction.
• Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.
• Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
• Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
• GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in KISS1/Kiss1.
• Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications.
• The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonado...
• Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.
• Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor.
• Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.
• Increasing insulin resistance is associated with a decrease in Leydig cell testosterone secretion in men.
• Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men.
• Kallmann syndrome in a 47,XXX patient.
• Ketoacidosis during gestational diabetes. Case report.
• Characteristics of Caucasian type 2 diabetic patients during ketoacidosis and at follow-up.
• Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
• The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormon...
• Importance of inhibin B in the regulation of FSH secretion in the human male.
• CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

Doctors Specialties

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• Internal Medicine
• Endocrinology

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