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Question

A new-born baby presents with shock, hyperkalemia and hypoglycemia. What is the most likely diagnosis ?

The correct answer is
Congenital adrenal hyperplasia

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.

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Important Questions from Adrenal Disorders

  1. Match the List I with List II and select the correct answer using the code given below the lists:
    List I
    (disease)
    List II
    (signs)
    A. Conn syndrome1. Anosmia
    B. Turner syndrome2. Tetany
    C. Kallman syndrome3. Lymphoedema
    D. Cushing syndrome4. Avascular necrosis of hip

    Code:
  2. Which of the following test has maximum sensitivity for diagnosing Pheochromocytoma?
  3. A 26 year old lady has a Prolactinoma (microadenoma). The best modality of treatment for her condition is:
  4. Escape behaviour with paroxysmal occurrence is seen in:
  5. 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:
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