ESPEYB21 1. Pituitary and Neuroendocrinology New Treatments and Hopes (4 abstracts)
1.12. Insights into central congenital hypothyroidism: A multicenter retrospective analysis
German A , Almashanu S , de Vries L , Gil Margolis M , Halloun R , Haim A , Eyal O , Levy-Khademi F , Pivko-Levy D , Nir J , Pinhas-Hamiel O & Tenenbaum-Rakover Y
J Clin Endocrinol Metab. 2024 Jul 15:dgae485. doi: 10.1210/clinem/dgae485. PubMed: 39008607
Brief Summary: This multicentre retrospective cross-sectional study provides critical insights into the epidemiology, clinical presentation, and neurodevelopmental outcomes of central congenital hypothyroidism (CCH).
CCH is a rare disorder that occurs due to insufficient hypothalamic-pituitary stimulation of the thyroid, characterized by low total T4 (TT4) with either low, normal or slightly elevated TSH. Most newborn screening (NBS) programs for CH are primarily TSH-based and thereby do not detect CCH. Only a few NBS programs worldwide aim to detect both forms of CH by different strategies. Insidious onset of the condition and the reliance on TSH-based screening protocols, which often fail to identify affected infants causes a diagnostic challenge.
This study included data from 94 patients diagnosed with CCH between 1987 and 2021. It highlights significant challenges in early detection within the framework of current NBS programs. Despite established screening efforts, the median age at diagnosis was 50 days, a delay that is particularly concerning given the high prevalence of moderate to severe hypothyroidism at diagnosis. This underscores the limitations of NBS protocols that primarily target primary CH.
The study further emphasizes the difficulties in early detection, with only 3 infants identified through the NBS program. The predominance of multiple pituitary hormone deficiencies (MPHD) in the CCH cohort, particularly the high rates of growth hormone (96%) and ACTH (73%) deficiencies, complicates clinical outcomes, resulting in neurodevelopmental sequelae in 37% of patients. Notably, despite the critical importance of early diagnosis and intervention in CCH, the study detected no differences in neurodevelopmental outcomes between early and late-diagnosed groups. CCH prevalence was approximately 1:42,842 live births in the study and compared with the other populations and NBS strategies.
This study underscores the challenges in diagnosing and managing CCH and highlights the need for further research to assess the impact of delayed diagnosis on neurologic outcomes in affected newborns.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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