Diagnosis Analysis: New-born Symptoms
The question presents a critical clinical scenario in a new-born characterized by three key findings: shock, hyperkalemia (elevated potassium levels), and hypoglycemia (low blood glucose levels). Evaluating the options requires correlating these symptoms with potential diagnoses.
Symptom Correlation with Options
- Septicemia: While septicemia can cause shock and hypoglycemia, hyperkalemia is not a consistent or primary feature.
- Inborn Error of Metabolism (IEM): This is a broad category. Some IEMs can cause hypoglycemia or shock, but the specific combination with hyperkalemia points more strongly towards specific endocrine disorders.
- Diabetes Mellitus: Typically associated with hyperglycemia (high blood sugar), not hypoglycemia. It's also uncommon in new-borns presenting acutely with shock.
- Congenital Adrenal Hyperplasia (CAH): Particularly the salt-wasting forms (e.g., 21-hydroxylase deficiency), present in new-borns due to deficiencies in cortisol and aldosterone. Aldosterone deficiency leads to salt loss, volume depletion, and subsequent shock, along with hyperkalemia. Cortisol deficiency contributes to hypoglycemia. This diagnosis aligns perfectly with the triad of shock, hyperkalemia, and hypoglycemia.
Most Likely Diagnosis: CAH
Congenital adrenal hyperplasia, specifically the salt-wasting phenotype, is the most likely diagnosis given the combination of shock, hyperkalemia, and hypoglycemia in a new-born. These symptoms arise from adrenal insufficiency, impacting both cortisol and aldosterone production.
Important Questions from Adrenal Disorders
- Which one of the following is a cause of Secondary Hyperaldosteronism?
Which of the following are correct regarding Cortisol?
1. Levels are highest in the morning on waking.
2. Cortisol falls dramatically during an illness.
3. More than 95% circulating cortisol is protein bound.
4. It is the major glucocorticoid in humans and can also activate mineralocorticoid receptors.
Select the answer using the code given below :
- A 50-year lady, who is a known case of rheumatoid arthritis, presents with obesity, moon facies, abdominal striae and hypertension. Overnight dexamethasone suppression test shows serum cortisol is greater than 50 nmol/L, serum ACTH is less than 1.1 pmol/L. The adrenal imaging and brain CT/MRI imaging studies are unremarkable. The likely diagnosis is
- Hirsutism is seen in which of the following ?
1. Polycystic ovarian syndrome
2. Congenital adrenal hyperplasia
3. Hypothyroidism
4. Ovarian tumour
Select the correct answer using the code given below: - A patient presents with circulatory shock, nausea, vomiting and diarrhoea. A diagnosis of acute adrenal crisis is considered. A blood sample is stored for measurement of serum cortisol and treatment started without delay. Which of the following are appropriate interventions?
1. IV normal saline
2. IV hydrocortisone 100 mg stat
3. IV 10% glucose
4. IV KCl as infusion
Select the correct answer using the code given below:
