ESPE2024 Poster Category 1 Thyroid 2 (9 abstracts)
Usefulness of T4 measurement in neonatal screening for congenital hypothyroidism - Experience of two Italian Centers
Raffaella Di Mase 1 , Anastasia Ibba 2 , Marianna Amitrano 3 , Paola Lorello 3 , Sara Vasaturo 3 , Valeria Incandela 2,4 , Donatella Capalbo 3 & Mariacarolina Salerno 3
1Pediatric Endocrine Unit, Department of Mother and Child, University Hospital Federico II, Naples, Italy. 2SSD Endocrinologia Pediatrica, Ospedale Pediatrico Microcitemico, Cagliari, Italy. 3Pediatric Endocrine Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy. 4Scuola di Specializzazione in Pediatria, Università di Cagliari, Cagliari, Italy
The initial priority of newborn screening (NBS) for congenital hypothyroidism (CH) should be the detection of the primary forms (prevalence: 1:2000-3000), characterized by elevated TSH and reduced FT4 values. When financial resources are available, guidelines recommend adding measurement of T4 or FT4 to screen for central CH (CeCH), characterized by reduced T4/FT4 and reduced, normal or inadequately elevated TSH. Most NBS programs for CH are based on TSH measurement only, thereby not detecting central CH. In Italy only 3 centers performe NBS based to T4/TSH.
Objectives: to describe the frequency of diagnoses of primary and central hypothyroidism among children referred for abnormal NBS for CH due to low T4 values.
Methods: Confirmatory serum testing of newborn recalled by NBS for low T4 in two Centers from 2019 to 2023 were analyzed.
Results: Overall, 1847 patients were referred to the Centers from 2019 to 2023. Among these, 476 (25.8%) had normal spot TSH and low spot T4. Confirmatory serum testing results of children referred for low spot T4:
| DIAGNOSIS | nr | % |
| Normal thyroid function | 390 | 82 |
| Primary CH | 12 | 2.5 |
| TBG deficiency | 45 | 9.5 |
| Central CH | 5 | 1 |
| Hypothyroxinemia of prematurity | 24 | 5 |
| Total | 476 | 100 |
Five patients were diagnosed with CeCH. The defect was isolated in 1 and associated with ACTH deficiency in the remaining 4 patients; moreover 2 of them developed GH deficiency over time. One patient with CeCH and ACTH deficiency received the diagnosis before the NBS results due to persistent neonatal hypoglycemia whereas in the remaining 3 patients the NBS allowed to an early diagnosis of combined pituitary hormone deficiency (CPHD).
Conclusion: Our data confirm that testing for T4 at NBS is useful to early identify and treat patients with CeCH either isolated or associated with other pituitary hormone deficits. However, this screening strategy also resulted in an unnecessary recall of patients with normal thyroid function, TBG deficiency and hypothyroxinemia of prematurity thus representing a high burden in terms of work, costs and parental stress.
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