IllnessThyroid dysgenesis, differential diagnosis

NGS +

[Sanger]

Thyroid dysgenesis describes disturbed organogenesis of the thyroid gland and includes ectopy, agenesia, hemiagenesia and hypoplasia. It must be distinguished from dyshormonogenesis in an otherwise normally developed eutopic thyroid. Thyroid dysgenesis causes 80-85% of cases of congenital hypothyroidism. Parts of the thyroid tissue are likely to be present in 2/3 of affected infants, rendering a spectrum of hypothyroidism severity. Dysgenesis usually occurs sporadically and the mechanisms in embryogenesis are unclear. 2-3% of cases of thyroid dysgenesis are familial and associated with pathogenic mutations. Although most newborns with thyroid dysgenesis are asymptomatic, the clinical symptoms (less active, nutritional problems, constipation etc.) may include heart defects as well as disorders of the nervous, muscular, digestive and urogenital systems, cleft palate and eye abnormalities. All inheritance patterns occur; the diagnostic yield is unknown. Therefore, an inconspicuous genetic finding does not mean that the clinical suspected diagnosis can be excluded with certainty.

Reference: https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13627

• Alias: Congenital hypothyroidism due to developmental anomaly
• Alias: Hypothyroidism, congenital, non-goitrous
• Alias: Hypothyroidism, congenital, nongoitrous
• Alias: Hypothyroidismus, kongenital, ohne Struma
• Alias: Primary congenital hypothyroidism due to developmental anomaly
• Alias: Thyroid agenesis
• Alias: Thyroid dysgenesis
• Allelic: Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
• Allelic: Chorea, hereditary benign (NKX2-1)
• Allelic: Conotruncal anomaly face syndrome (TBX1)
• Allelic: Conotruncal heart malformations, variable (NKX2-5)
• Allelic: Deafness, congenital heart defects + posterior embryotoxon (JAG1)
• Allelic: Hyperthyroidism, familial gestational (TSHR)
• Allelic: Hyperthyroidism, nonautoimmune (TSHR)
• Allelic: Hypoplastic left heart syndrome 2 (NKX2-5)
• Allelic: Mirror movements 4 (NTN1)
• Allelic: Tetralogy of Fallot (JAG1)
• Allelic: Tetralogy of Fallot (NKX2-5)
• Allelic: Tetralogy of Fallot (TBX1)
• Allelic: Thyroid adenoma, hyperfunctioning, somatic (TSHR)
• Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
• Allelic: Thyroid cancer, nonmedullary, 4 (FOXE1)
• Allelic: Thyroid carcinoma with thyrotoxicosis (TSHR)
• Allelic: Velocardiofacial syndrome (TBX1)
• Allelic: Ventricular septal defect 3 (NKX2-5)
• Alagille syndrome 1 (JAG1)
• Allelic: Deafness, AR 4, with enlarged vestibular aqueduct (SLC16A4)
• Bamforth-Lazarus syndrome (FOXE1)
• Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
• DiGeorge syndrome (TBX1)
• Diabetes mellitus, neonatal, with congenital hypothyroidism (GLIS3)
• Hypothyroidism, congenital / thyroid dysgenesis [panelapp] (CDCA8)
• Hypothyroidism, congenital, nongoitrous, 1 (TSHR)
• Hypothyroidism, congenital, nongoitrous, 2; H., cong. due to thyroid dysgenesis/hypoplasia (PAX8)
• Hypothyroidism, congenital, nongoitrous, 4 (TSHB)
• Hypothyroidism, congenital, nongoitrous, 5 (NKX2-5)
• Hypothyroidism, congenital, nongoitrous, 6 (THRA)
• Hypothyroidism, congenital, nongoitrous, 7 (TRHR)
• Hypothyroidism, congenital, nongoitrous, 8 (TBL1X)
• Hypothyroidism, congenital, nongoitrous, 9 (IRSA4)
• Pendred syndrome (SLC16A4)
• Primary congenital hypothyroidism, thyroid dysgenesis (TUBB1)