Congenital Hypothyroidism: 8-Year Experience Using 2 Newborn Screens in Alabama
| Autor: | Gail J. Mick, Leslie Pitts, Winston McCormick |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Heart disease Endocrinology Diabetes and Metabolism Thyrotropin 030209 endocrinology & metabolism Thyroid dysgenesis Hyperthyroidism 03 medical and health sciences 0302 clinical medicine Endocrinology Thyroid dysfunction Central hypothyroidism Medicine Humans Mass Screening In patient Retrospective Studies Newborn screening 030219 obstetrics & reproductive medicine business.industry Infant Newborn Retrospective cohort study medicine.disease Congenital hypothyroidism Thyroxine Pediatrics Perinatology and Child Health Alabama Female business Algorithms Follow-Up Studies |
| Zdroj: | Hormone research in paediatrics. 91(5) |
| ISSN: | 1663-2826 |
| Popis: | Background/Aims: Newborn screening protocols for congenital hypothyroidism (CH) vary as to whether a TSH or T4 algorithm or some combination is performed. We aimed to determine the 3-year clinical outcome of infants diagnosed with CH and screen-positive for CH using a 2-screen protocol that measures both T4 and TSH on all specimens. Methods: Retrospective analysis of patients with CH who were detected by first (NBS1) or second (NBS2) newborn screen in Alabama (2009–2016) and followed at our university-based practice. Clinical follow-up established the final diagnoses in 146 patients, including a subset of 72 patients with eutopic glands. Results: 168 patients were studied: 139 (83%) were detected by NBS1 and 29 (17%) by NBS2. Screening T4 concentrations were 45% reduced in NBS2 compared to NBS1 (p= 0.0002). Thyroid dysgenesis was present in 55% of NBS1 patients while all in NBS2 were eutopic. Follow-up of 146 patients confirmed permanent CH in 92 patients in NBS1 (75%) and 5 in NBS2 (20%). Hispanic infants were only detected by NBS1, and 93% had permanent CH. Transient CH was associated with congenital heart disease. In patients with eutopic, permanent CH, dyshormonogenesis was confirmed in 23% of NBS1 patients and 40% of NBS2. One case of central CH was detected by each screen. Conclusions: This 8-year, retrospective study buttresses the importance of a 2-screen approach for CH by identifying 5 infants with clinically significant permanent thyroid dysfunction including dyshormonogenesis and central hypothyroidism. It is the first 2-screen study to incorporate thyroid ultrasound. Disconcertingly, 4 of 5 second-screen infants with permanent CH had no risk factors for CH, and these infants would otherwise not have been detected. |
| Databáze: | OpenAIRE |
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