What is Cretinism ?
Cretinism is a congenital form of deficiency of
thyroid hormones, retarding mental and physical growth.
A cretin is a person affected by cretinism. This term has come to
be regarded as insulting in the general population, although it is
appropriate within technical settings.
Cretinism results from thyroid hormone deficiency. Thyroid
hormones have permissive growth effects on body tissues such as
muscular and neuronal tissue. A person afflicted with cretinism
has severe physical and mental retardation. Often times he/she
will have the physical stature of a child, when in fact the person
is much older. Other symptoms may include slurred speech and
movement, a protruding abdomen, and waxy skin.
Cretinism can manifest in a number of ways. If a person is born
lacking a thyroid gland he/she will be affected. Also, it can
develop through iodine deficiency. For this reason, cretinism has
historically been more common in areas where the soil is deficient
in iodine.
If it is treated early with thyroid hormones and
trace iodine supplementation of the diet, significant improvement
can be seen.
What is
congenital hypothyroidism ?
Congenital hypothyroidism is a condition of thyroid
hormone deficiency present at birth. Approximately 1 in 4000
newborn infants has a severe deficiency of thyroid function, while
even more have mild or partial degrees. If untreated for several
months after birth, severe congenital hypothyroidism can lead to
growth failure and permanent mental retardation. Treatment
consists of a daily dose of thyroid hormone ( thyroxine) by mouth.
Because the treatment is simple, effective, and inexpensive,
nearly all of the developed world practices newborn screening to
detect and treat congenital hypothyroidism in the first weeks of
life.
1 Causes
Around the world, the most common cause of congenital
hypothyroidism is iodine deficiency, but in most of the developed
world and areas of adequate environmental iodine, cases are due to
a mixture of known and unknown causes. Most commonly there is a
defect of development of the thyroid gland itself, resulting in an
absent (athyreosis) or underdeveloped (hypoplastic) gland. A
hypoplastic gland may develop higher in the neck or even in the
back of the tongue. A gland in the wrong place is referred to as
ectopic, and an ectopic gland at the base or back of the tongue is
a lingual thyroid. Some of these cases of developmentally abnormal
glands result from genetic defects, and some are "sporadic," with
no identifiable cause.
Congenital hypothyroidism can also occur due to genetic defects of
thyroxine or triiodothyronine synthesis within a structurally
normal gland. Among specific defects are thyrotropin ( TSH)
resistance, iodine trapping defect, organification defect,
thyroglobulin, and iodotyrosine deiodinase deficiency. In a small
proportion of cases of congenital hypothyroidism, the defect is
due to a deficiency of thyroid stimulating hormone, either
isolated or as part of congenital hypopituitarism.
In some instances, hypothyroidism detected by screening may be
transient. The most common cause of this is the presence of
maternal antibodies which temporarily impair thyroid function for
several weeks.
Cretinism is an old term for the state of mental and physical
retardation resulting from untreated congenital hypothyroidism,
usually due to iodine deficiency from birth because of low iodine
levels in the soil and local food sources. The term, like so many
other 19th century medical terms, acquired pejorative connotations
as it became used in lay speech. It is now rarely used by
physicians.
2 Diagnostic evaluation
In the developed world, nearly all cases of congenital
hypothyroidism are detected by the newborn screening program.
These are based on measurement of TSH or thyroxine.
Thyroid Gland
Healthcare Provider
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