Congenital hypothyroidism 3-year follow-up project: Region 4 Midwest Genetics Collaborative results

Kupper A. Wintergerst, Erica Eugster, Karen Andruszewski, Mary Kleyn, Nancy Vanderburg, Joe Sockalosky, Ram Menon, Sharon Linard, Suzanne Kingery, Susan R. Rose, Julie Moore, Gina Gembel, Lisa Gorman

Research output: Contribution to journalArticle


To identify the 3-year follow-up management and education patterns of primary care clinicians and pediatric endocrinologists for children diagnosed with congenital hypothyroidism (CH) through newborn screening programs, the Region 4 Midwest Genetics Collaborative, made up of seven regional states (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, Wisconsin), performed a survey study of parents and physicians caring for children identified with CH. The clinicians and parents of 409 children with CH regionally identified in 2007 were invited to participate in a voluntary survey. Responses relating to treatment, monitoring practices, educational resources, genetic counseling, and services provided/received were collected from 214 clinicians and 77 parents. In total, 99% had undergone a confirmatory test following positive newborn screening and 55% had imaging at diagnosis, but only 50% were identified as having the etiology identified. Thyroid withdrawal challenge testing was the choice method for re-evaluating thyroid function, but the approach varied. Clinician and parent responses to education and genetic counseling also differed. Clinicians report face-to-face education as the most common method, with less than 50% providing handouts to patients. Only 14% of patients were referred to a genetics counselor. Of parents reporting on their educational experience, 86% received face-to-face education from a pediatric endocrinologist and 4% received education from a genetic counselor. Only 65%, however, were satisfied with their education. These survey data suggest a lack of a standardized approach to diagnosis, follow-up, education, and genetic counseling. This collaborative effort provides insight into developing three-year follow-up, education and genetic counseling guidelines for children diagnosed with CH.

Original languageEnglish (US)
Article number18
JournalInternational Journal of Neonatal Screening
Issue number2
StatePublished - Jun 2018


  • Congenital hypothyroidism
  • Neonatal
  • Newborn
  • Screening
  • Thyroid

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Immunology and Microbiology (miscellaneous)
  • Obstetrics and Gynecology

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    Wintergerst, K. A., Eugster, E., Andruszewski, K., Kleyn, M., Vanderburg, N., Sockalosky, J., Menon, R., Linard, S., Kingery, S., Rose, S. R., Moore, J., Gembel, G., & Gorman, L. (2018). Congenital hypothyroidism 3-year follow-up project: Region 4 Midwest Genetics Collaborative results. International Journal of Neonatal Screening, 4(2), [18].