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Congenital Hypothyroidism

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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

        ...

Keywords

  • Down Syndrome
  • Thyroid Stimulate Hormone
  • Newborn Screening
  • Sensorineural Hearing Loss
  • Congenital Hypothyroidism

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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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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