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Congenital Hypothyroidism

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

  • 266 Accesses

All forms of congenital hypothyroidism occur in 1 in 4,000 live births worldwide. The dysgenetic form affects twice as many females as males. It is the most prevalent congenital endocrine disease. The incidence is approximately 1 in 32,000 in Blacks and 1 in 2,000 in Hispanics.

Synonyms and Related Disorders

Ectopic thyroid gland; Thyroid agenesis; Thyroid dysgenesis; Thyroid hypoplasia; Thyrotropin resistance

Genetics/Basic Defects

  1. 1.

    Inheritance (Ambrugger et al. 2001)

    1. a.

      Thyroid dysgenesis

      1. i.

        The most frequent cause of congenital hypothyroidism (85% of cases)

      2. ii.

        Morphological classification

        1. a)

          Ectopic thyroid gland: the most frequent malformation, observed most frequently at the base of the tongue

        2. b)

          Athyreosis (absence of any detectable thyroid tissue)

        3. c)

          Hypoplasia (partially absent thyroid)

      3. iii.

        Sporadic in most cases

      4. iv.

        Genetic factors contributing to the development of thyroid dysgenesis in 2% of cases with a positive familial history

        ...

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Congenital Hypothyroidism. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_54

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