Cretinism E00.9

Recommendations to use a "sub-Egyptian salt" for croup therapy date back to the pharaohs (approx. 1,500 BC) (Aberle 2025).

The oldest description of cretinism comes from the Alps and dates back to 1220. The medical term "cretinism" originated in Valais and was first used in the 18th century (Als 2008).

In 1883, Emil Theodor Kocher described cretin-like changes in patients who had undergone thyroidectomy (Aberle 2025).

Edward Calvin Kendall was the first to discover the thyroid hormone in 1914 and since the 1960s it has been possible to measure thyroxine directly in the blood (Aberle 2025).

L-thyroxine came onto the market in the mid-1930s (Rychlik 2017).

Cretinism is the untreated full-blown picture of congenital hypothyroidism (Herold 2025). If severe iodine deficiency has led to cretinism, this is referred to as "endemic cretinism" (Krude 2020).

Congenital hypothyroidism is found in 1:3,200 births, but the full picture, cretinism, is very rare in regions with medical care (Herold 2025).

Worldwide, iodine deficiency is the most common cause of preventable mental retardation (Herold 2025).

Endemic cretinism has become very rare following the introduction of WHO iodine supplementation programs (Krude 2020).

Causes of congenital hypothyroidism can be:

• Athyroidism
• Thyroid dysplasia
• Thyroid ectopia
• Defect in hormone biosynthesis (rare)
• Defect in hormone secretion (rare)
• Thyroid hormone resistance with e.g. T3 receptor defect (extremely rare) (Herold 2025)
• Iodine deficiency, especially in newborns of mothers suffering from iodine deficiency
• Selenium deficiency (Kasper 2015)
• Autosomal recessive synthesis defects of thyroid hormones (Krude 2020).

In newborns there are:

• laziness to drink
• constipation
• Lack of movement
• Icterus neonatorum prolongatus
• Possible umbilical hernia
• Possibly weakened muscle reflexes (Herold 2025)

If left untreated in later years:

• Maturation delay of bone and tooth age
• Growth retardation
• Low intelligence
• Hearing loss
• Speech disorders
• Mental and psychological retardation (Herold 2025)

Newborn screening includes the determination of TSH from heel blood on the 3rd day of life. If hypothyroidism is present, the TSH is basally elevated. An early diagnosis is crucial for the prognosis (Herold 2025).

Therapy consists of early and lifelong administration of T4. Regular laboratory tests are required to check the hormone status (Herold 2025).

If treatment is started even 3 weeks too late, brain performance will be impaired for the rest of the patient's life. Short stature, on the other hand, can still be influenced by late substitution (Herold 2025).

1. Aberle J (2025) Endocrinologic diseases in history. Doi: https://www.glandula-online.de/endokrinologische-erkrankungen-in-der-geschichte
2. Als C (2008) Cretinism. In: Historical Dictionary of Switzerland. HLS. Doi https://hls-dhs-dss.ch/en/articles/022716/2008-11-04/
3. Herold G et al (2025) Internal medicine. Herold Publishers 756
4. Kasper D L, Fauci A S, Hauser S L, Longo D L, Jameson J L, Loscalzo J et al. (2015) Harrison's Principles of Internal Medicine. Mc Graw Hill Education 2285
5. Krude H, Grüters-Kieslich A (2020) Congenital thyroid disease in newborns and infants. In: Hiort O, Danne T, Wabitsch M Pediatric Endocrinology and Diabetology. Springer Reference Medizin Verlag Berlin / Heidelberg 407 - 417
6. Rychlik W (2017) The need for iodine supplementation. Orthomolecular Medical Information Service