Associate Professor of Medicine, Massachusetts General Hospital
Endocrinology
Dr. Stephanie B. Seminara, MD
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Stephanie Seminara works in the field of Endocrinology. She researched medicine at Harvard Medical School. Harvard Medical School is one of the top medical schools in the US. Harvard Medical School is ranked 1 in research and 12 in primary care medicine She over the years received 2 awards: "Elected Member" and "Super Doctor". Stephanie B. Seminara has written publications. She has 101 publications published with PubMed. The lastest paper is: 'Hypogonadotropic hypogonadism.'
Publications
- Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in Female mice.
- The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction.
- A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism.
- Exogenous Kisspeptin Administration as a Probe of GnRH Neuronal Function in Patients with Idiopathic Hypogonadotropic Hypogonadism.
- TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.
- Utilizing Genetic Models of Idiopathic Hypogonadotropic Hypogonadism in Mice and Men to Understand Mechanism of Disease.
- Redundancy in kiss1 expression safeguards reproduction in the mouse.
- Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
- 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.
- LC-MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats.
- 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.
- Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.
- Kisspeptin and the hypothalamic control of reproduction: lessons from the human.
- Kisspeptin Administration to Women: A Window into Endogenous Kisspeptin Secretion and GnRH Responsiveness across the Menstrual Cycle.
- When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR).
- Uncovering Novel Reproductive Defects in Neurokinin B Receptor Null Mice: Closing the Gap Between Mice and Men.
- Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications.
- GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in KISS1/Kiss1.
- Evidence from the Agonadal Juvenile Male Rhesus Monkey (Macaca mulatta) for the View that the Action of Neurokinin B to Trigger Gonadotropin-Releasing Hormone Release ...
- Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
- The kisspeptin signaling pathway and its role in human isolated GnRH deficiency.
- Kisspeptin Resets the Hypothalamic GnRH Clock in Men.
- 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.
- Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus.
- Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
- TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
- Deciphering genetic disease in the genomic era: the model of GnRH deficiency.
- GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.
- Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men.
- Lack of association of hypogonadotropic genes with age at menarche: prospects for the future.
- Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
- A GPR54-activating mutation in a patient with central precocious puberty.
- Converging at puberty's hub.
- Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice.
- Kisspeptin in reproduction.
- Effect of continuous intravenous administration of human metastin 45-54 on the neuroendocrine activity of the hypothalamic-pituitary-Testicular axis in the adult male ...
- Human genetics of GPR54.
- Continuous human metastin 45-54 infusion desensitizes G protein-coupled receptor 54-induced gonadotropin-releasing hormone release monitored indirectly in the juvenile...
- We all remember our first kiss: kisspeptin and the male gonadal axis.
- Metastin and its G protein-coupled receptor, GPR54: critical pathway modulating GnRH secretion.
- New gatekeepers of reproduction: GPR54 and its cognate ligand, KiSS-1.
- Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates.
- GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone...
- The GPR54 gene as a regulator of puberty.
- A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.
- Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes.
- Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era.
- Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.
- The role of prior pubertal development, biochemical markers of Testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonado...
- Perspective: the importance of genetic defects in humans in elucidating the complexities of the hypothalamic-pituitary-gonadal axis.
- Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations.
- Aromatase inhibition in the human male reveals a hypothalamic site of estrogen feedback.
- Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.
- X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and Females.
- Hypogonadotropic hypogonadism.
- The Reproductive Endocrine Associates of the Massachusetts General Hospital: fifteen years of integrated clinical practice and investigation.
- Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's Syndrome): pathophysiological and genetic considerations.
- The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.
- Inhibin B secretion in males with gonadotropin-releasing hormone (GnRH) deficiency before and during long-term GnRH replacement: relationship to spontaneous puberty, t...
- Inhibin B in males with gonadotropin-releasing hormone (GnRH) deficiency: changes in serum concentration after shortterm physiologic GnRH replacement--a clinical resea...
- Unbiased transmission of mutant alleles at the human retinoblastoma locus.
- Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.
- Kisspeptin and GPR54: discovery of a novel pathway in reproduction.
- Kallmann Syndrome in a 47,XXX patient.
- Amiodarone and the thyroid.
- Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice.
- Decrease in hypothalamic Kiss1 and Kiss1r expression: a potential mechanism for fasting-induced suppression of the HPG axis in the adult male rhesus monkey (Macaca mul...
- Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
- A case of Kallmann Syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor rece...
- New genes controlling human reproduction and how you find them.
- Kisspeptin and KISS1R: a critical pathway in the reproductive system.
- Mutations in fibroblast growth factor receptor 1 cause Kallmann Syndrome with a wide spectrum of reproductive phenotypes.
- Mechanisms of Disease: the first kiss-a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction.
- Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
- Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.
- Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness.
- Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).
- Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function.
- Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1.
- Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
- Effect of treatment with cyproterone acetate on uterine bleeding at the beginning of GnRH analogue therapy in girls with idiopathic central precocious puberty.
- CHD7 mutations in patients initially diagnosed with Kallmann Syndrome--the clinical overlap with CHARGE Syndrome.
- A role for kisspeptins in the regulation of gonadotropin secretion in the mouse.
- The genetics of IHH--a paradox.
- P40 modulation of macrophages from different anatomical sites.
- Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.
- Changes of thyroid function during long-term hGH therapy in GHD children. A possible relationship with catch-up growth?
- Decrease in serum IgE associated with limited restriction in energy intake to treat toddler's diarrhea.
- Effect of aflatoxins on rat peritoneal macrophages.
- Effects of L-652,731, a platelet activating factor (PAF) receptor antagonist, in splanchnic artery occlusion (SAO) shock in rats.
- Normal energy intake range in children with chronic nonspecific diarrhea: association of relapses with the higher level.
- Different effects of bacterial lipopolysaccharide on superoxide anion production by macrophages from normal and tumor-bearing rats.
- Thyroid hormones low levels in insulin-dependent diabetic young people.
- [Neurologic complications of Epstein-Barr virus. Clinical contributions with a description of a complex case treated with acyclovir].
- [Jejunal microflora in children with flat mucosa and normal mucosa].
- [Therapy with arginine chlorohydrate in children with short constitutional stature].
Schools
HARVARD MED SCH
Massachusetts General Hospital
Conditions Treated
- Female Infertility
- Polycystic Ovarian Syndrome
- Symptomatic Menopause
- Testicular Dysfunction
Doctors Specialties
- Endocrinology
Accepted Insurances
Awards
- Elected Member
- Super Doctor
Education
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Massachusetts General Hospital -
Harvard Medical School
Hospital
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Massachusetts General Hospital
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