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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessThyroid dysgenesis, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Thyroid dysgenesis comprising 19 guideline-curated and altogether 17 curated genes according to the clinical signs

ID
SP1230
Number of genes
16 Accredited laboratory test
Examined sequence length
23,9 kb (Core-/Core-canditate-Genes)
26,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CDCA8853AD, AR
FOXE11122AR
GLIS32328AR
IRS43774XLR
JAG13657AD
NKX2-11206AD
NKX2-5975AD
NTN11821AD
PAX81353AD
TBX11488AD
TRHR1197AD, AR
TSHB417AR
TSHR2295AD, AR
TUBB11356AD
TBL1X1734AD
THRA1233AR

Informations about the disease

Clinical Comment

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

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E07.8

Bioinformatics and clinical interpretation

No text defined