Endocrine Abstracts

Introduction: Children with long-standing primary hypothyroidism usually have growth retardation, neurodevelopmental impairment, and delayed puberty. However, paradoxical precocious puberty, namely Van Wyk-Grumbach syndrome (VWGS), has been described. The postulated mechanism is high levels of TSH stimulate gonadal FSH receptors, resulting in ovarian over-stimulation and precocious puberty. Since the enlarged ovarian cyst is commonly found in VWGS, malignancy is often suspecte...

Background: Resistance to thyroid hormone alpha (RTHα), caused by mutations in the T3-receptor alpha 1 (TRα1) isoform, includes growth retardation, intellectual disability, and abnormal thyroid function tests. The current paradigm entails that disease features arise from decreased T3 action in TRα1-expressing tissues. However, also for patients that carry mutations that completely abolish T3-stimulated activity, neurological features vary strongly, ranging from ...