ECEESPE2025 Poster Presentations Adrenal and Cardiovascular Endocrinology (169 abstracts)
Neonatal screening in subjects with non-classic congenital adrenal hyperplasia (NCCAH)
Anat Segev-Becker 1,2 , Liat Perl 1,2 , Hussein Zaitoon 1,2 , Asaf Oren 1,2 , Ori Eyal 1,2 , Erella Elkon Tamir 1 , Galit Israeli 1 , Yael Lebenthal 1,2 , Shlomo Almashanu 3 & Naomi Weintrob 1
1The Institute of Pediatric Endocrinology, Diabetes and Metabolism, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; 2Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; 3The National Newborn Screening Program, Ministry of Health, Tel-Hashomer, Israel
JOINT1220
Background: Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) primarily targets the detection of classical forms, with limited sensitivity for the milder non-classic form (NCCAH). Data on the predictive value of NBS 17-hydroxyprogesterone (17OHP) levels for later diagnosis of NCCAH, particularly in relation to specific genotypes, remain scarce.
Aim: To compare NBS 17OHP levels among children with NCCAH carrying mild/severe genotypes, those with mild/mild genotype, and healthy controls (HC).
Methods: Between 2020 and 2024, children evaluated for precocious pubarche/puberty, growth acceleration, or advanced bone age in a pediatric endocrinology clinic underwent ACTH stimulation testing. Eligible participants were born at or after 2008, following the implementation of NBS. Children with a history of early prematurity or perinatal complications were excluded. The study included 60 children with NCCAH (peak stimulated 17OHP ≧ 40 nmol/l) and 59 healthy controls (stimulated 17OHP ≤ 25 nmol/l). NBS 17OHP levels were retrieved from the national NBS laboratory. CYP21A2 mutations were screened using a nine-mutation panel and multiplex ligation-dependent probe amplification in individuals diagnosed with NCCAH.
Results: Median NBS 17OHP levels were significantly higher in NCCAH patients compared to HC (6.3 nmol/l [IQR: 4.6–8.2] vs. 5.1 nmol/l [IQR: 3.6–7.0], P=0.012). Within the NCCAH cohort, no significant difference in NBS 17OHP levels was observed between the mild/severe and mild/mild genotype subgroups (P=0.43). ROC curve analysis identified an NBS 17OHP cutoff of ≧5.9 nmol/l as a potential predictor for future NCCAH diagnosis; however, the sensitivity and specificity were low (AUC=0.633).
Conclusions: The current NBS recall threshold (≧35 nmol/l) is substantially higher than the median NBS 17OHP levels observed in NCCAH patients, limiting its effectiveness in identifying NCCAH. Interestingly, the identified cutoff of 5.9 nmol/l aligns with basal 17OHP thresholds proposed for ACTH testing in older NCCAH patients. Furthermore, no differences in NBS 17OHP levels were observed between genotype subgroups, contrasting with previously reported findings in older individuals.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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