Cretinism

Congenital iodine deficiency syndrome
Portrait by Eugène Trutat of a man affected with cretinism
Classification and external resources
Specialty	Endocrinology
ICD-10	E00
ICD-9-CM	243
DiseasesDB	6612
eMedicine	ped/501
MeSH	C05.116.099.343.347
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Cretinism is a condition of severely stunted physical and mental growth owing to untreated congenital deficiency of thyroid hormone (congenital hypothyroidism) usually owing to maternal hypothyroidism.

Congenital hypothyroidism can be endemic, genetic, or sporadic. If untreated, it results in mild to severe impairment of both physical and mental growth and development.

Poor length growth is apparent as early as the first year of life. Adult stature without treatment ranges from 100 to 160 cm (3 ft 3 in to 5 ft 3 in), depending on severity, sex, and other genetic factors. In adults, Cretinism results in mental deterioration, swelling of the skin, loss of water and hair.Bone maturation and puberty are severely delayed. Ovulation is impeded, and infertility is common.

Neurological impairment may be mild, with reduced muscle tone and coordination, or so severe that the person cannot stand or walk. Cognitive impairment may also range from mild to so severe that the person is nonverbal and dependent on others for basic care. Thought and reflexes are slower.

Other signs may include thickened skin, enlarged tongue, or a protruding abdomen.

Dwarfism may also be caused by malnutrition or other hormonal deficiencies, such as insufficient growth hormone secretion, hypopituitarism, decreased secretion of growth hormone-releasing hormone, deficient growth hormone receptor activity and downstream causes, such as insulin-like growth factor 1 (IGF-1) deficiency.

Sporadic and genetic cretinism results from abnormal development or growth of the foetal thyroid gland. This type of cretinism has been almost completely eliminated in developed countries by early diagnosis by newborn screening schemes followed by lifelong treatment with thyroxine (T4).

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