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Three Most Common Congenital Endocrine Disorders
Congenital Adrenal Hyperplasia,
What is Congenital Adrenal Hyperplasia (CAH)?
A family of disorders caused by decreased enzyme activity required for cortisol production in the adrenal cortex
S/S CAH: General
Abnormally high levels of ACTH, Early salt wasting crisis leads to HYPONATREMIA, HYPERKALEMIA
What is congenital hypothyroidism?
An inborn error of thyroid metabolism; neonates develop the inability to synthesize adequate amounts of thyroid hormone
Which type of congenital hypothyroidism is associated with maternal Graves disease that is treated with anti-thyroid drugs?
Due to maternal transfer of thyroid hormone in utero, how long might the infant not present with S/S?
Dx: Congenital Hypothyroidism
NB screening, any positive will need further eval to confirm TSH, T4 & T3
What is Phenylketonuria?
An autosomal recessive trait caused by an absence of the enzyme phenylalanine hydroxylase
What does phenylalanine hydroxylase do?
It is needed to metabolize the essential amino acid phenylalanine
What causes a deficiency of the pigment melanin (leading to blonde hair, blue eyes and fair skin)?
Decreased levels of tyrosine
What causes degeneration of white and gray matter in the brain?
Decreased levels of dopamine & tryptophan
Newborn Screening: PKU
Infant ingests adequate protein prior to test,
Heel stick after 1 day to 7 days
How long should protein restrictions remain for the child?
They can be decreased after full brain growth which is around 8 years of life
What is type 1 diabetes?
Autoimmune destruction of the pancreatic beta cells which leads to insulin deficiency
Significant Lab Changes in DKA
+ketones in blood & urine,
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