x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Idiopathic congenital hypothyroidism

Disease definition

Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown.

ORPHA:95717

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: -
  • ICD-10: E03.1
  • ICD-11: 5A00.0Y
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Clinical description

Clinical manifestations are those of other forms of congenital hypothyroidism (CH; see this term). Goiter is always absent.

Diagnostic methods

Ultrasound examination and thyroid scintigraphy show a thyroid gland of normal shape and size in the normal, eutopic location. Idiopathic congenital hypothyroidism can be diagnosed after exclusion of the known causes of CH.

Expert reviewer(s):  Dr Stephen LAFRANCHI - Dr Maynika RASTOGI - Last update: August 2010

  A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)

Detailed information

Guidelines

Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

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.