Reasons for Referral, Newborn Screening and Outcome of Congenital Central Hypothyroidism in Israel
2National Newborn Screening Program, Ministry of Health, ישראל
3The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, ישראל
4Pediatric endocrinology Unit, Ruth Rappaport Children’s Hospital, Rambam Health Care Campus, ישראל
5Pediatric Endocrinology and Diabetes Unit, Soroka Medical Center, ישראל
6Faculty of Health Science, Ben Gurion University of the Negev, ישראל
7Pediatric Endocrinology Unit, Dana-Dwek Children's Hospital, Tel-Aviv Medical Center, ישראל
8Faculty of Medicine, Technion-Israel Institute of Technology, ישראל
9Pediatric Endocrinology and Diabetes Unit, Share Zedek Medical Center, ישראל
10Faculty of Medicine, Hebrew University, ישראל
11Pediatric Endocrinology and Diabetes Unit, Wolfson Medical Center, ישראל
12Pediatric Endocrinology and Diabetes Unit, Shamir (Asaf Harofe) Medical Center, ישראל
13Pediatric Endocrine and Diabetes Unit, Edmond and Lily Safra Children’s Hospital, ישראל
14Sackler School of Medicine, Tel-Aviv University, ישראל
Background: The main objective of Israeli newborn screening (NBS) is to detect neonates with primary CH. The screening is based on total T4(TT4) followed by TSH. When TSH is normal the physicians are not informed of the results and therefore the diagnosis and treatment of Central-CH are significantly delayed. This study aimed to assess the prevalence of C-CH in Israel and to characterize clinical features, neonatal screening results, the outcomes of children with C-CH.
Methods: In this multicenter, nationwide study data on 96 subjects (54 males) with C-CH were collected from medical records from 9 Pediatric Endocrine Centers. NBS results were retrospectively retrieved from the computerized records of the National NBS Program between 2008 to 2021.
Results: Combined pituitary hormone deficiencies (CPHD) had 82% of subjects, remaining 18% had Isolated C-CH. Age at diagnosis was 51 (8-575) days (median, interquartile range-IQR). TSH and FT4 levels at diagnosis were 3.19 (1.78 - 5.25) mIU/l, and 9.00 (6.84 - 9.97) pmol/l, (median-IQR) respectively. At diagnosis 66% of patients had FT4 levels below 10 pmol/l. The NBS results were: TSH- 3.83 (2.56 - 6.69), normal for newborns (
Conclusions: 1.Delay in diagnosis of C-HC was found. 2.Over half of the patients with C-CH had severe to moderate hypothyroidism at presentation. 3.Significant number of patients suffered from neurodevelopmental sequalae.