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.
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. Inbred populations of patients with autosomal recessive, idiopathic hypogonadotropic hypogonadism that demonstrate clear founder effects have been assembled.
Bo-Abbas Y, Acierno jr JS, Shagoury JK, Crowley Jr WF, Seminara SB. Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the GnRH and GnRH receptor genes. J Clin Endocrinol Metab. 2003: 88:2730-2737.
Acierno jr JS, Shagoury JK, Bo-Abbas Y, Crowley Jr WF, Seminara SB. A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3. J Clin Endocrinol Metab. 2003: 88:2947-2950.
Seminara SB, Acierno JS, Abdulwahid NA, Crowley WFC, Margolin DH. Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred. J Clin Endocrinol Metab. 2002; 87:1607-1612
Oliveira LMB, Seminara SB, Beranova, Hayes FJ, Valkenburgh SB, Costa EMF, Schipani E, Latronico AC, Crowley Jr WF, Vallejo M. Novel mutations of the KAL gene in hypogonadotropic hypogonadism: neuroendocrine characteristics, modes of inheritance, and genotype-phentoype correlations. J Clin Endocrinol Metab. 2001; 86:1532-1538
Beranova M, Oliveira LMB, Bedecarrats G, Schipani E, Vallejo M, Ammini P, Quintos JB, Hall JE, Martin KA, Hayes FJ, Pittleloud N, Kaiser U, Crowley Jr WF, Seminara SB. Incidence, spectrum, and modes of inheritance of GnRH receptor mutations in idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2001; 86:1580-1588.
Seminara SB, Beranova M, Oliveira LMB, Martin KA, Crowley WF Jr., Hall JE. Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. J Clin Endocrinol Metab. 1999; 85:556-562.
Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF Jr. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab. 1999; 84:4501-9.