Dr. Welt is an Associate Professor at the Harvard Medical School and Consultant in the Medical Service at Massachusetts General Hospital.
Female infertility is a devastating medical disorder with underlying etiologies that present medical consequences within and beyond the reproductive years. Dr. Welt’s career has therefore focused on disorders of reproduction and their medical consequences. Her initial work centered on the use of inhibin B as a marker of ovarian function, documenting normal aging and early ovarian aging in women. However, markers of ovarian function identify women at risk for infertility late in the course and are not helpful for improving fertility prognosis. Therefore, Dr. Welt began to study the genetics of female reproductive disorders so that they can be identified early, providing the opportunity for early intervention. Dr. Welt’s work has demonstrated genetic risk factors for hypothalamic amenorrhea. Work on the complex genetics of polycystic ovary syndrome has uncovered a variant that results in risk for polycystic ovary syndrome in women of European ethnicity. Dr. Welt also discovered a novel gene that causes primary ovarian insufficiency.
Dr. Welt’s goal is to continue to uncover genetic risk for infertility and to understand the genotype/phenotype relationship between genetic factors resulting in primary ovarian insufficiency and polycystic ovary syndrome. If diagnosed early, the appropriate prevention and treatment measures can be put in place to alleviate infertility and avoid the associated medical consequences.
Pau CT, Keefe C, Duran J, Welt C (2014). Metformin Improves Glucose Effectiveness, Not Insulin Sensitivity: Predicting Treatment Response in Women with Polycystic Ovary Syndrome in an Open-Label, Interventional Study. J Clin Endocrinol Metab, jc20134021.
Legro RS, Arslanian SA, Ehrmann DA, Hoeger KM, Murad MH, Pasquali R, Welt CK (2013). Diagnosis and treatment of polycystic ovary syndrome: an endocrine society clinical practice guideline. J Clin Endocrinol Metab, 98(12), 4565-92.
Kasippillai T, MacArthur DG, Kirby A, Thomas B, Lambalk CB, Daly MJ, Welt CK (2013). Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. J Clin Endocrinol Metab, 98(9), E1534-9.
Saxena R, Welt CK (2013). Polycystic ovary syndrome is not associated with genetic variants that mark risk of type 2 diabetes. Acta Diabetol, 50(3), 451-7.
Welt CK, Styrkarsdottir U, Ehrmann DA, Thorleifsson G, Arason G, Gudmundsson JA, Ober C, Rosenfield RL, Saxena R, Thorsteinsdottir U, Crowley WF, Stefansson K (2012). Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry. J Clin Endocrinol Metab, 97(7), E1342-7.
Caronia LM, Martin C, Welt CK, Sykiotis GP, Quinton R, Thambundit A, Avbelj M, Dhruvakumar S, Plummer L, Hughes VA, Seminara SB, Boepple PA, Sidis Y, Crowley WF Jr, Martin KA, Hall JE, Pitteloud N (2011). A genetic basis for functional hypothalamic amenorrhea. N Engl J Med, 364(3), 215-25.
Powe CE, Allen M, Puopolo KM, Merewood A, Worden S, Johnson LC, Fleischman A, Welt CK (2010). Recombinant human prolactin for the treatment of lactation insufficiency. Clinical Endocrinology, 73(5), 645-53.
Welt CK, Arason G, Gudmundsson JA, Adams J, Palsdottir H, Gudlaugsdottir G, Ingadottir G, Crowley WF (2006). Defining constant versus variable phenotypic features of women with polycystic ovary syndrome using different ethnic groups and populations. J Clin Endocrinol Metab, 91(11), 4361-8.
Welt CK, Chan JL, Bullen J, Murphy R, Smith P, DePaoli AM, Karalis A, Mantzoros CS (2004). Recombinant human leptin in women with hypothalamic amenorrhea. N Engl J Med, 351(10), 987-97.