ESPE2023 Free Communications Thyroid (6 abstracts)
1Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Paediatric Endocrinology Unit, Bruxelles, Belgium. 2Endocrinology Service and Research Center, Ste-Justine Hospital and Department of Paediatrics, Université de Montréal, Montreal, Canada. 3Laboratory of Paediatric Research, Université Libre de Bruxelles, Bruxelles, Belgium
Introduction: Consensus guidelines (2021) state that a second dry blood spot (DBS) should be considered for newborn screening (NBS) in preterms (delayed TSH rise).
Objective: To evaluate the diagnostic yield of an NBS strategy including a second DBS at 14 days in preterms.
Material and Methods: Retrospective study of 2 cohorts. Cohort 1: live births <37 weeks of gestational age (GA), screened by the ULB NBS Center between January 2019 and December 2022 (digital database available since January 2019); cohort 2: permanent CH born between 1981 and 2019, followed at our Hospital.
Results: See table. Cohort 1: among 6,391 preterms with a median GA of 35.3 (23-36) weeks, six have been diagnosed with CH, all transient. Two out of 6 had a delayed TSH rise. A serum TSH of 33.7 mU/L on day 14 was noted in the twin brother (patient 7) of patient 6. Cohort 2: among 193 patients with permanent CH, we identified 7 preterms diagnosed between day 4 to 7 of life.
1st DBS | 2nd DBS | ||||||||
Patient | Sex | GA (wks) | Birth weight (g) | Diagnosis | Age (days) | TSH (mU/L) | Age (days) | TSH (mU/L) | |
Cohort 1: | |||||||||
1 | F | 27 | 500 | Transient | 3 | 4.1 | 31 | 50.9 | |
2 | F | 34 | 2360 | Transient | 2 | 3.2 | 14 | 37.4 | |
3 | M | 31 | 2280 | Unknown (neonatal death) | 5 | 459 | - | - | |
4 | M | 36 | 3350 | Transient* | 3 | 16.5 | - | - | |
5 | F | 36 | 2500 | Transient* | 2 | 59.7 | - | - | |
6 | M | 36 | 2315 | Transient | 4 | 16.7 | 12 | 15.7 | |
7 | M | 36 | 2175 | Transient | 4 | 12.2 | - | - | |
Cohort 2: | |||||||||
8 | M | 28 | 700 | Orthotopic | 4 | 127 | - | - | |
9 | F | 35 | 2700 | Lingual | 7 | 55 | - | - | |
10 | F | 35 | 2510 | Lingual | 4 | 251 | - | - | |
11 | F | 35 | 2500 | Lingual | 4 | 99.7 | - | - | |
12 | F | 34 | 1990 | Unknown | 5 | 132 | - | - | |
13 | M | 34 | 1910 | Lingual | 6 | 247 | - | - | |
14 | M | 36 | 3380 | Lingual | 4 | 251 | - | - | |
*Iodine overload |
Conclusion: Transient CH was observed in six out of 6,391 preterms and was not detected on the first NBS in two. Permanent CH in preterms occurred in seven out of 193 patients (fewer than expected given that births <37 weeks in Belgium occur in 8% of newborns) and was readily detected on the first NBS sample. More studies are necessary to justify a second DBS at 14 days of life in all preterm newborns.