Like this study set? Create a free account to save it.

Sign up for an account

Already have a Quizlet account? .

Create an account

Three Most Common Congenital Endocrine Disorders

Congenital Adrenal Hyperplasia,
Congenital Hypothyroidism,

Newborn testing: What are all infants tested for?


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: Females

Ambiguous genitalia, enlarged clitoris, fusion of the labia

S/S CAH: Males

No genital abnormalities, small testes and no occurrence of spermatogenesis

S/S CAH: General

Abnormally high levels of ACTH, Early salt wasting crisis leads to HYPONATREMIA, HYPERKALEMIA


Cortisone to suppress high ACTH; Aldosterone if salt-wasting

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?

6-9 weeks

Dx: Congenital Hypothyroidism

NB screening, any positive will need further eval to confirm TSH, T4 & T3

Upon Dx, describe TSH levels


Upon Dx, describe T4 levels


What is the most common endocrine problem in children?

Juvenile Hypothyroidism

Tx: Juvenile Hypothyroidism

Gradual increase of L-thyroxine over 4-8 weeks

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


Protein restricted diet

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

What is present in 70-85% of newly diagnosed patients?

Islet cell antibodies

How do you mix cloudy & clear insulin?

Clear to Cloudy

Significant Lab Changes in DKA

metabolic acidosis,
+ketones in blood & urine,

Tx: DKA -- Fluids Rx

10-20 ml/kg body weight

Tx: DKA -- IV Regular Insulin Rx

Constant infusion at 0.1 units/kg/hr

What rate should serum glucose be lowered?

50-100 mg/dL/hr

What acute complication is a major concern with DKA and tx therapy?

Cerebral edema

What is dark skin on the neck that is associated with uncontrolled Type 2 diabetes?

Acanthosis Nigricans

Please allow access to your computer’s microphone to use Voice Recording.

Having trouble? Click here for help.

We can’t access your microphone!

Click the icon above to update your browser permissions and try again


Reload the page to try again!


Press Cmd-0 to reset your zoom

Press Ctrl-0 to reset your zoom

It looks like your browser might be zoomed in or out. Your browser needs to be zoomed to a normal size to record audio.

Please upgrade Flash or install Chrome
to use Voice Recording.

For more help, see our troubleshooting page.

Your microphone is muted

For help fixing this issue, see this FAQ.

Star this term

You can study starred terms together

Voice Recording