Search for a rare disease
Other search option(s)
Hypothyroidism due to TSH receptor mutations
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.
ORPHA:90673Classification level: Disorder
- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Autosomal recessive or Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: E03.1
- OMIM: 275200
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Resistance to TSH occurs in about 5% of cases of permanent congenital hypothyroidism.
Clinical manifestations are those of other forms of congenital hypothyroidism (CH; see this term). Goiter is always absent.
Mutations in the TSH receptor gene (TSHR; 14q31) result in resistance to TSH, which causes a reduction in thyroid hormone production. Mutations in TSHR may also cause thyroid hypoplasia (see this term).
A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)
- Anesthesia guidelines
- Czech (2017) - Orphananesthesia
- English (2017) - Orphananesthesia
- Español (2017) - Orphananesthesia
Disease review articles
- Review article
- English (2010) - Orphanet J Rare Dis
- Guidance for genetic testing
- Français (2016, pdf) - ANPGM
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.