Dr. Stephanie Seminara
Dr. Stephanie Seminara is a faculty member of the Reproductive Endocrine Unit at Massachusetts General Hospital, an Assistant Professor of Medicine at Harvard Medical School, and an Assistant in Medicine at Massachusetts General Hospital.
She is also Co-Director of the Reproductive Endocrine Associates, the clinic practice of the Reproductive Endocrine Unit. In the clinic, she sees both men and women with a broad variety of reproductive abnormalities, and has a particular interest in men and women with hypogonadal states.
Research Interests:
Dr. Seminara studies the genetics of idiopathic hypogonadotropic hypogonadism, a disease characterized by delay of pubertal development and infertility.
The broad goal of Dr. Seminara's work is the elucidation of the genes that cause congenital, idiopathic hypogonadotropic hypogonadism (gonadotropin releasing hormone [GnRH] deficiency) and the exploration of genotype/phenotype correlations for patients with this disorder. Identification of the genes that modify GnRH secretion is critical to advance the understanding of normal reproduction. Human “knock out” models of isolated GnRH deficiency represent a unique biologic opportunity to identify the gene(s) relevant to GnRH secretion.
To date, the genetics of idiopathic hypogonadotropic hypogonadism (IHH) has been challenging to elucidate, as this condition is characterized by rich clinical and genetic heterogeneity, variable modes of inheritance, and association with other anomalies. Selected genetic approaches have highlighted the fact that children of marriages between related individuals heterozygous at a given genetic locus have a high probability of being affected due to homozygosity by descent. Dr. Seminara and colleagues have used linkage analysis in a large consanguineous family with IHH. Their work has uncovered that mutations in a G protein coupled receptor, GPR54, are a cause of autosomal recessive IHH. Thus, GPR54, and its ligand, metastin, are critical regulators of the reproductive axis. Further genetic studies are underway to elucidate the role of these proteins.
She is also Co-Director of the Reproductive Endocrine Associates, the clinic practice of the Reproductive Endocrine Unit. In the clinic, she sees both men and women with a broad variety of reproductive abnormalities, and has a particular interest in men and women with hypogonadal states.
Research Interests:
Dr. Seminara studies the genetics of idiopathic hypogonadotropic hypogonadism, a disease characterized by delay of pubertal development and infertility.
The broad goal of Dr. Seminara's work is the elucidation of the genes that cause congenital, idiopathic hypogonadotropic hypogonadism (gonadotropin releasing hormone [GnRH] deficiency) and the exploration of genotype/phenotype correlations for patients with this disorder. Identification of the genes that modify GnRH secretion is critical to advance the understanding of normal reproduction. Human “knock out” models of isolated GnRH deficiency represent a unique biologic opportunity to identify the gene(s) relevant to GnRH secretion.
To date, the genetics of idiopathic hypogonadotropic hypogonadism (IHH) has been challenging to elucidate, as this condition is characterized by rich clinical and genetic heterogeneity, variable modes of inheritance, and association with other anomalies. Selected genetic approaches have highlighted the fact that children of marriages between related individuals heterozygous at a given genetic locus have a high probability of being affected due to homozygosity by descent. Dr. Seminara and colleagues have used linkage analysis in a large consanguineous family with IHH. Their work has uncovered that mutations in a G protein coupled receptor, GPR54, are a cause of autosomal recessive IHH. Thus, GPR54, and its ligand, metastin, are critical regulators of the reproductive axis. Further genetic studies are underway to elucidate the role of these proteins.
