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

IllnessThyroid hormone receptor deficiency, differential diagnosis


Short information

Comprehensive differential diagnostic panel for Thyroid hormone receptor deficiency comprising 2 guideline-curated core genes, another 20 guideline-curated genes and altogether 27 curated genes according to the clinical signs

Number of genes
6 Accredited laboratory test
Examined sequence length
5,5 kb (Core-/Core-canditate-Genes)
8,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity

Informations about the disease

Clinical Comment

Congenital hypothyroidism is a loss of thyroid function with either lower hormone levels or, in rare cases, resistance to these hormones. In up to 85% of cases the thyroid gland is absent, i.e. there is thyroid dysgenesis. In the remaining cases, thyroid hormones or their effect(s) are missing. Thyroid dyshormonogenesis and central (or pituitary) hypothyroidism also lead to congenital hypothyroidism due to a lack of thyroid hormone function. Affected babies are asymptomatic or less active and sleep more, have feeding problems and suffer from constipation. If left untreated, congenital, non-goitous hypothyroidism can lead to mental retardation and slow growth. Thyroid hormone resistance can be inherited autosomal dominantly, recessively or X-linked, each with variable expressivity. The diagnostic yield is largely unknown, as it depends in particular on the clinical findings.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK26373/


  • Alias: Refetoff syndrome
  • Alias: Resistance to thyroid hormone beta
  • Alias: Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta
  • Alias: Thyroid hormone receptor deficiency, beta
  • Allelic: AD hyperinsul., hypopituit., craniofacial/endoderm-derived abnorm. [panelapp] (FOXA2)
  • Allelic: Adrenocortical tumor, somatic (PRKAR1A)
  • Allelic: Amyloidosis, hereditary, transthyretin-related (TTR)
  • Allelic: Analbuminemia (ALB)
  • Allelic: Carney complex, type 1 (PRKAR1A)
  • Allelic: Carpal tunnel syndrome, familial (TTR)
  • Allelic: Congenital hyperinsulinism [panelapp] (FOXA2)
  • Allelic: Hyperthyroidism, familial gestational (TSHR)
  • Allelic: Hyperthyroidism, nonautoimmune (TSHR)
  • Allelic: Intellectual developmental disorder, XL, with isolated growth hormone deficiency (SOX3)
  • Allelic: Jackson-Weiss syndrome (FGFR1)
  • Allelic: Myxoma, intracardiac (PRKAR1A)
  • Allelic: Osteoglophonic dysplasia (FGFR1)
  • Allelic: Pfeiffer syndrome (FGFR1)
  • Allelic: Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
  • Allelic: Thyroid adenoma, hyperfunctioning, somatic (TSHR)
  • Allelic: Thyroid carcinoma with thyrotoxicosis (TSHR)
  • Allelic: Trigonocephaly 1 (FGFR1)
  • Acrodysostosis 1, with or without hormone resistance (PRKAR1A)
  • Allan-Herndon-Dudley syndrome (SLC16A2)
  • CHARGE syndrome (CHD7)
  • Congenital hypopituitarism [panelapp] (FOXA2)
  • Dysalbuminemic hyperthyroxinemia (ALB)
  • Dysalbuminemic hypertriiodothyroninemia (ALB)
  • Dystransthyretinemic hyperthyroxinemia (TTR)
  • Growth hormone deficiency with pituitary anomalies (HESX1)
  • Hartsfield syndrome (FGFR1)
  • Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Hypogonadotropic hypogonadism 3 with/-out anosmia (PROKR2)
  • Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
  • Hypothyroidism, central + testicular enlargement (IGSF1)
  • Hypothyroidism, congenital, nongoitrous, 1 (TSHR)
  • Hypothyroidism, congenital, nongoitrous, 4 (TSHB)
  • Hypothyroidism, congenital, nongoitrous, 6 (THRA)
  • Hypothyroidism, congenital, nongoitrous, 7 (TRHR)
  • Hypothyroidism, congenital, nongoitrous, 8 (TBL1X)
  • Immunodeficiency, common variable, 10 (NFKB2)
  • Microphthalmia, syndromic 3 (SOX2)
  • Microphthalmia, syndromic 5 (OTX2)
  • Obesity, morbid, due to leptin receptor deficiency (LEPR)
  • Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
  • Panhypopituitarism, XL (SOX3)
  • Pituitary hormone deficiency, combined or isolated, 1 (POU1F1)
  • Pituitary hormone deficiency, combined, 2 (PROP1)
  • Pituitary hormone deficiency, combined, 3 (LHX3)
  • Pituitary hormone deficiency, combined, 4 (LHX4)
  • Pituitary hormone deficiency, combined, 5 (HESX1)
  • Pituitary hormone deficiency, combined, 6 (OTX2)
  • Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
  • Septooptic dysplasia (HESX1)
  • Thyroid hormone metabolism, abnormal (SECISBP2)
  • Thyroid hormone resistance (THRB)
  • Thyroid hormone resistance, AR (THRB)
  • Thyroid hormone resistance, selective pituitary (THRB)
  • obsolete designation: Deafness-thyroid hormone resistance syndrome (THRB)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • XL
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined