

Languages Spoken: English
Female reproductive disorders are devastating and their underlying etiologies may present additional medical problems within and beyond the reproductive years. My work has therefore focused on disorders of reproduction and their medical consequences. Polycystic ovary syndrome causes infertility because of its irregular menstrual cycles. It is also associated with risk for diabetes, high blood pressure, insulin resistance and high cholesterol. Hypothalamic amenorrhea, which can result from too much exercise or too little fat, causes infertility and bone loss. Women who go through menopause too early are at risk for bone loss and heart disease. My goal is to find markers and genetic risk factors that will help identify these problems early. If diagnosed early, the appropriate prevention and treatment measures can be put in place to alleviate infertility and avoid the associated medical consequences.
Clinical Locations
Utah Diabetes & Endocrinology Center
801-581-7761
Specialties
Board Certification and Academic Information
Academic Departments | Internal Medicine
-
Professor |
Academic Divisions | Endocrinology and Metabolism |
Board Certification | American Board of Internal Medicine (Sub: Endocrinology, Diabetes & Metabolism) |
Female infertility is a devastating medical disorder with underlying etiologies that present medical consequences within and beyond the reproductive years. My career has therefore focused on disorders of reproduction and their medical consequences. My 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, I began to study the genetics of female reproductive disorders so that they can be identified early, providing the opportunity for early intervention. My 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. I also discovered a novel gene that causes primary ovarian insufficiency. My 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.
Academic Locations
Utah Diabetes & Endocrinology Center
801-581-7761
Board Certification and Academic Information
Academic Departments | Internal Medicine
-
Professor |
Academic Divisions | Endocrinology and Metabolism |
Board Certification | American Board of Internal Medicine (Sub: Endocrinology, Diabetes & Metabolism) |
Research Interests
- Polycystic Ovary Syndrome
- Menopause, Premature
- Menstrual Cycle
- Amenorrhea
- Women's Health
- Genetics
- Breastfeeding
- Prolactin
- Hypothalamic Diseases
Education History
Research Fellow | Massachusetts General Hospital Reproductive Endocrinology Research Fellow |
Fellowship | Massachusetts General Hospital Endocrinology Clinical Fellow |
Chief Resident | VA Boston Healthcare System Internal Medicine Chief Resident |
Residency | Brigham and Women's Hospital Internal Medicine Resident |
Internship | Brigham and Women's Hospital Internal Medicine Intern |
Professional Medical | Cornell University Medical College Medicine M.D. |
Undergraduate | University of Wisconsin–Madison Biochemistry B.S. |
Publications - Journal Articles
Journal Article
- Day FR, Hinds DA, Tung JY, Stolk L, Styrkarsdottir U, Saxena R, Bjonnes A, Broer L, Dunger DB, Halldorsson BV, Lawlor DA, Laval G, Mathieson I, McCardle WL, Louwers Y, Meun C, Ring S, Scott RA, Sulem P, Uitterlinden AG, Wareham NJ, Thorsteinsdottir U, Welt C, Stefansson K, Laven JS, Ong KK, Perry JR (2015). Causal mechanisms and balancing selection inferred from genetic associations with the polycystic ovary syndrome. Nat Commun, 6, 8464-8470.
- Hayes MG, Urbanek M, Ehrmann DA, Armstrong LL, Lee JY, Sisk R, Karaderi T, Barber TM, McCarthy MI, Franks S, Lindgren CM, Welt CK, Diamanti-Kandarakis E, Panidis D, Goodarzi MO, Azziz R, Zhang Y, James RG, Olivier M, Kissebah AH, Reproductive Medicine Network, Stener-Victorin E, Legro RS, Dunairf A (2015). Genomewide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat Commun, 6, 7502-7514.
- Saxena R, Bjonnes AC, Georgopoulos NA, Koika V, Panidis D, Welt CK (2015). Gene variants associated with age at menopause are also associated with polycystic ovary syndrome, gonadotrophins and ovarian volume. Hum Reprod, 30, 1697-1703.
- Pau CT, Keefe C, Duran J, Welt CK (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, 99(5), 1870-8.
- 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.
- 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.
- 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.
- 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. Clin Endocrinol (Oxf), 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.
Review
Case Report
- Iwama S, Welt CK, Romero CJ, Radovick S, Caturegli P (2013). Isolated prolactin deficiency associated with serum autoantibodies against prolactin-secreting cells. J Clin Endocrinol Metab, 98(10), 3920-5.
- Welt CK, Falorni A, Taylor AE, Martin KA, Hall JE (2005). Selective theca cell dysfunction in autoimmune oophoritis results in multifollicular development, decreased estradiol, and elevated inhibin B levels. J Clin Endocrinol Metab, 90(5), 3069-76.
Global Impact
Presentations
Phenotypic Characteristics of U.S. Women with Polycystic Ovary Syndrome, 1st Korea-U.S. Workshop on Infertility, Seoul, South Korea | Korea |