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Adrenal Hypoplasia
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Two identified forms of
congenital adrenal hypoplasia exist. The
X-linked disorder (OMIM 300200) is caused by a
mutation or deletion of the DAX1 gene
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Allgrove (AAA)
Syndrome |
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In 1978, Allgrove and
colleagues described 2 unrelated pairs of
siblings with isolated glucocorticoid failure
and achalasia of the esophagus cardia....
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Androgen
Insensitivity Syndrome |
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Androgen
insensitivity syndrome (AIS), formerly known as
testicular feminization, is an X-linked recessive
condition resulting in a failure of .... |
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Adrenal
Insufficiency |
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Adrenal insufficiency can be classified as
primary or secondary. Primary adrenal
insufficiency occurs when the adrenal gland itself
is dysfunctional.... |
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Chemical Burns
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Chemical burns are divided primarily into 2
groups: acid and alkali. In addition to the
occupational hazards associated with industrial
strength
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Electrical Burns |
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While frequently grouped
together in a single category, electrical injuries
are actually a spectrum of injuries. Injuries
range from.... |
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Animal Bites |
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Estimates
indicate that more than 5 million Americans are
bitten by animals each year. Dogs and cats are
involved in most of these bites....... |
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Diabetes Mellitus
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Diabetes
mellitus (DM) is a chronic metabolic disorder
caused by an absolute or relative deficiency of
insulin, an anabolic hormone. Insulin is
produced..... |
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Cerebral
Salt-Wasting Syndrome |
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First described by Peters
et al in 1950, cerebral salt-wasting syndrome
(CSWS) is defined by the development of
excessive natriuresis ..... |
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Congenital
Adrenal Hyperplasia |
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The term
congenital adrenal hyperplasia encompasses several autosomal
recessive disorders that share complete or partial
deficiency of an enzyme...
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Growth Failure
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Short stature may
be the normal expression of genetic potential, in
which case the growth rate is normal, or it may be
the result of a condition causing .... |
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Solitary Thyroid |
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True solitary
nodules occur in 0.22-1.35% of the pediatric
population as opposed to the adult population, in
which the prevalence is closer to 4%..... |
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Growth Hormone
Deficiency |
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Many European paintings, particularly those of
the Spanish Court, portray people with extremely
short stature who may have had growth hormone .... |
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Short Stature
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Longitudinal
assessment of growth is essential child care.
Prompt recognition of the short child can occur
only with accurate measurements of growth......
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Hyperinsuline |
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Primary
hyperinsulinism is a rare but important cause
of hypoglycemia in infants and children. It is the
most common cause of neonatal hypoglycemia.... |
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Hypermagnesemia |
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Magnesium is the second most abundant
intracellular cation and the fourth most abundant
cation overall. Almost all enzymatic processes... |
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Hypercalcemia
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Calcium absorption
and regulation involve a complex interplay between
multiple organ systems and regulatory hormones.
The 3 predominant sources of calcium.... |
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