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Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Disease definition
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.
ORPHA:226307
Classification level: Disorder- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Autosomal recessive
- Age of onset: Infancy
- ICD-10: E03.1
- ICD-11: 5A00.01
- OMIM: -
- UMLS: C4273672
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Prevalence is unknown.
Clinical description
The clinical manifestations can be subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Goiter is always absent. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Without treatment hypothyroidism results in severe intellectual deficit and short stature. Clinical manifestations may often include signs of hypopituitarism including septo-optic dysplasia or cleft lip and/or palate among others.
Etiology
The hypothyroidism is caused by mutations in genes regulating pituitary gland development including HESX1, LHX3, LHX4, POU1F1 and PROP1 (3p21.2-p21.1, 9q34.3, 1q25, 3p11 and 5q) .
A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2018) - Eur Thyroid J
- English (2021) - Thyroid
- Anesthesia guidelines
- Czech (2017) - Orphananesthesia
- English (2017) - Orphananesthesia
- Español (2017) - Orphananesthesia
Disease review articles
- Review article
- English (2010) - Orphanet J Rare Dis
Genetic Testing
- Guidance for genetic testing
- Français (2016, pdf) - ANPGM
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