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
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.