1. Presenting manifestations Watery Stools Vomiting Drowsy Generalized tonic-clonic seizures Vital Signs T: afebrile CR: 180 RR: 50-60 LAB results Na 120 K 6.0 Hgt low

2. Symptom, sign or laboratory finding pathognomonic of a disease Symptom, sign or laboratory finding pointing to an organ or part of an organ system Symptom, sign or laboratory finding pointing to a group of diseases Symptom, sign or laboratory finding whose mechanism is well understood Symptom, sign, or laboratory finding found in the least number of diseases 2 Approach to Diagnosis

3. Seizures NeurologicMetabolicInfectious

4. Metabolic Electrolyte Imbalance Diabetic Ketoacidosis Intoxication Adrenal Crisis Severe salt wasting: -vomiting, -Watery stools -electrolyte changes - cardiac arrhythmia

5. Etiologies Primary Adrenal Insufficiency – Congental Adrenal Hypoplasia – Congenital Adrenal Hyperplasia – Adrenal Hemorrhage (waterhouse Friedrichsen Syndrome) – ACTH unresponsiveness – Acute Illness – Adrenoleukodystrophy Secondary Adrenal Insufficiency – Anencephaly – Hypopituitarism – Isolated ACTH deficiency – Iatrogenic-prolonged steroid therapy

6. Approach to Diagnosis Congenital Adrenal Hyperplasia – inborn error of steroid biosynthesis. – 21 hydroxylase enzyme deficiency cannot produce adequate amounts of cortisol and, in some cases, also are aldosterone deficient. These hormones are essential to glucose metabolism and salt reabsorption

7. Adrenal Glands There are two main parts – the cortex (outer portion) Cortisol Aldosterone secondary site for sex hormone synthesis – medulla (inner portion) production of the stress hormones epinephrine and norepinephrine maintenance of blood pressure and heart muscle tone, and to sugar and salt balance.

8. Physiology Cortisol is a glucocorticoid -- a corticosteroid that: – Helps regulate blood sugar (glucose) – Holds back the immune response – Is released as part of the body's response to stress Cortisol production is regulated by a small gland just below the brain called the pituitary gland. www.umm.com

9. Risk factors for adrenal crisis include: Dehydration Infection and other physical stress Injury to the adrenal or pituitary gland Stopping treatment with steroids such as prednisone or hydrocortisone too early Surgery Trauma www.umm.com

10. Hypoglycemia : often accompanied by ketosis as the body attempts to utilize fatty acids as an alternative energy source. – Ketosis is aggravated by anorexia, nausea, and vomiting, all of which occur frequently. Hypovolemia due to decreased resorption of sodium in the distal nephron. Hyponatremia, due to decrease plasma osmolality – Hypotension and decreased cardiac output decrease glomerular filtration and thus decrease the ability of the kidney to excrete free water. Vasopressin (AVP) is secreted by the posterior pituitary in response to hypotension and also as a direct consequence of lack of inhibition by cortisol. Hyperkalemia, decreasing potassium excretion in the distal nephron

11. Congenital adrenal hyperplasia is caused by an error on a single gene. It is inherited, meaning it is passed down from parents to their children. Congenital adrenal hyperplasia is the most common autosomal recessive genetic disorder in humans. Congenital adrenal hypoplasia

12. Symptoms of the severe form of CAH Dehydration Low blood pressure Low blood sugar level Trouble keeping enough salt in their bodies Altered development of the external genitalia in girls which is noted at birth and may require surgery to correct Shorter height than their parents Early signs of puberty (in children) Irregular periods and possible trouble getting pregnant (in women) Excess facial hair (in women) Benign testicular tumors and infertility (in men)

13. Laboratory tests ACTH (cortrosyn) stimulation test Cortisol level Fasting blood sugar Serum potassium Serum sodium

14. ACTH (cosyntropin) stimulation test measures how well the adrenal glands respond to the hormone ACTH ACTH is a hormone produced in the pituitary gland that stimulates the adrenal glands to release cortisol NORMAL result: – An increase in cortisol after stimulation by ACTH is normal. – Blood cortisol after ACTH stimulation should be greater than 18 - 20 mcg/dL, depending on the dose of cosyntropin used.

15. Cortisol level A cortisol level is a blood test that measures the amount of cortisol, a steroid hormone produced by the adrenal cortex Normal values at 8 a.m. are 6 - 23 mcg/dL.

16. Congenital adrenal hyperplasia also known as CAH or 21-Hydroxylase Deficiency, is a genetic disorder of the adrenal glands.adrenal glands – Normally, the adrenal glands help keep the body in balance by making the right amounts of hormones, such as cortisol, aldosterone, and androgens. In people with congenital adrenal hyperplasia, the body doesn’t make enough of the hormone cortisol. Their bodies may also not make aldosterone. Instead, their adrenal glands make too much androgen. http://www.nichd.nih.gov/health/topics/Congenital_Adrenal_Hyperplasia.cfm

17. Etiologies Primary Adrenal Insufficiency – Congental Adrenal Hypoplasia Hypoadrenalism usually presents acutely in the neonatal period but may be delayed until later childhood or even adulthood with a more insidious onset – Adrenal Hemorrhage (waterhouse Friedrichsen Syndrome) Neionatal Period (Difficult labor, causing trauma) An abdominal mass, anemia, unexplained jaundice, or scrotal hematoma may be the presenting sign. Often, the hemorrhage is asymptomatic initially and is identified later by calcification of the adrenal gland. Infection – Tuberculosis was a common cause of adrenal destruction in the past but is much less prevalent now – Adrenoleukodystrophy associated with demyelination in the central nervous system appearing in childhood or adolescence and progressing to severe dementia and deterioration of vision, hearing, speech, and gait, with death occurring within a few years