ESPEYB17 3. Thyroid Congenital hypothyroidism (3 abstracts)
3.6. Neonatal screening for congenital hypothyroidism: what can we learn from discordant twins?
Medda E , Vigone MC , Cassio A , Calaciura F , Costa P , Weber G , de Filippis T , Gelmini G , Di Frenna M , Caiulo S , Ortolano R , Rotondi D , Bartolucci M , Gelsomino R , De Angelis S , Gabbianelli M , Persani L & Olivieri A
To read the full abstract: J Clin Endocrinol Metab. 2019;104:5765–5779.
It is not clear whether retesting is needed for a healthy cotwin of a twin pair discordant for congenital hypothyroidism (CH) at the first neonatal screening. Medda et al. retrospectively analyzed a cohort of 47 twin pairs discordant for CH at the first neonatal screening. On follow-up, 7 (15%) of cotwins who were initially negatively screened then tested positive on a second screening test up to 1 month of age. Two (4%) further siblings were diagnosed with CH on longer-term follow-up beyond the neonatal period at 9 months and 12 years of age. All 9 patients received levothyroxine substitutive therapy from diagnosis.
In conclusion, this study provides evidence for a higher detection rate of CH of initially healthy cotwins by repeated neonatal screening. These data clearly argue for systematic retesting of all healthy cotwins within the first month of life, and importantly irrespective of zygosity. In the context of increasing numbers of twin births over the last decades, repeated testing of twins will close an important and yet unexpected gap in neonatal screening programs.
Volume 17
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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