IllnessHyperthyroidism; differential diagnosis

NGS +

Hyperthyroidism can cause a variety of symptoms including nervousness/anxiety, fatigue, palpitations, tremors, diarrhea, sweating, sleep disturbances and weight loss. Affected women may experience menstrual irregularities, and some patients develop goiter. Between 25-50% present with eye disease, rarely with pain, double vision and optic nerve compression. Few patients develop pretibial myxedema or dermopathy. Usually, a combination of genetic and environmental factors is responsible for the development of Graves' disease, often as an autoimmune disorder with increased risk of developing other autoimmune conditions. Variations in many genes may be involved as susceptibility factors, e.g. specific HLA alleles and further genes regulating the immune system or involved in normal thyroid function. Most of these genetic variations have a small effect on the risk of hyperthyroidism. Thus the inheritance pattern of hyperthyroidism is usually multifactorial, but it can as pediatric manifestation rarely be clustered in families according to different monogenic inheritance patterns, e.g. as germline-activating TSHR mutation or as inactivating THRB variant. A negative DNA test result can by no means exclude the clinical diagnosis.

Reference: https://pubmed.ncbi.nlm.nih.gov/37847271/

• Alias: Abnormal thyroid hormone metabolism (SECISBP)
• Alias: Congenital, nonautoimmune hyperthyroidism (TSHR)
• Alias: Hyperthyroidism [familial] (TRHB)
• Alias: Hyperthyroxinaemia
• Allelic: Amyloidosis, hereditary, transthyretin-related (TTR)
• Allelic: Analbuminemia (ALB)
• Allelic: Carpal tunnel syndrome, familial (TTR)
• Allelic: Hypothyroidism, congenital, nongoitrous, 1 (TSHR)
• Allelic: Hypothyroidism, congenital, nongoitrous, 6 (THRA)
• Allelic: Thyroid hormone resistance (THRB)
• Allelic: Thyroid hormone resistance, AR (THRB)
• Allelic: Thyroid hormone resistance, selective pituitary (THRB)
• Allan-Herndon-Dudley syndrome (SLC16A2)
• Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
• Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
• Allelic: Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
• Allelic: Diabetes, type 1, susceptibility to (PTPN22)
• Allelic: Rheumatoid arthritis, susceptibility to (PTPN22)
• Allelic: Systemic lupus erythematosus susceptibility to (PTPN22)
• Allelic: Systemic lupus erythematosus, susceptibility to (CTLA4)
• Dysalbuminemic hyperthyroxinemia (ALB)
• Dystransthyretinemic hyperthyroxinemia (TTR)
• Hashimoto thyroiditis (CTLA4)
• Hyperthyroidism, familial gestational (TSHR)
• Hyperthyroidism, nonautoimmune (TSHR)
• Hyperthyroidism, transitional (THRA, THRB)
• Immune dysregulation with autoimmunity, immunodeficiency, lymphoproliferation (CTLA4)
• Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
• Thyroid adenoma, hyperfunctioning, somatic (TSHR)
• Thyroid carcinoma with thyrotoxicosis (TSHR)
• Thyroid hormone metabolism, abnormal (SECISBP2)