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    עמוד בית
    Tue, 10.06.25

    CASE COMMUNICATION

    IMAJ | volume 25

    Journal 5, May 2023
    pages: 374-376

    Simple Evaluation of Thyroid Function Leading to the Diagnosis of Allan-Herndon-Dudley Syndrome, a Rare Neurodevelopmental Disorder

    1 Department of Pediatrics, Shamir Medical Center (Assaf Harofeh), Zerifin, Israel 2 Pediatric Endocrinology and Diabetes Unit, Shamir Medical Center (Assaf Harofeh), Zerifin, Israel 3 Genetics Institute, Shamir Medical Center (Assaf Harofeh), Zerifin, Israel 4 Pediatric Neurology and Development Center, Shamir Medical Center (Assaf Harofeh), Zerifin, Israel 5 Department of Pediatric Neurology and Epilepsy, Shamir Medical Center (Assaf Harofeh), Zerifin, Israel 6 Department of Military Medicine and Tzameret Program, Faculty of Medicine, Hebrew University of Jerusalem, Israel and Medical Corps, Israel Defense Forces, Israel 7 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

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    Summary

    Global developmental delay (GDD), defined as a significant delay in two or more developmental domains (e.g., gross/fine motor, cognitive, speech/language, personal/social, activities of daily living), affects 1–3% of children. According to the Israeli Ministry of Health, thyroid function studies are not indicated in children with GDD unless there are systemic features suggestive of thyroid dysfunction (https://www.health.gov.il/hozer/mr36_2012.pdf). This approach also exists in other countries with newborn screening programs for congenital hypothyroidism.

    We present the case of an infant with GDD, who despite normal newborn screening tests, underwent a repeated extended thyroid function analysis (including T3 levels) leading to a diagnosis of Allan-Herndon-Dudley syndrome, a rare genetic neurodevelopmental syndrome.

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