NORCET 7 Prelims -2024: Salt losing syndrome is a feature of?

NORCET 7 Prelims -2024

Pathology & Genetics

Easy

Appeared in: NORCET 7 Prelims -2024

Explanation

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
The most common form, 21-hydroxylase deficiency, impairs the production of cortisol and aldosterone.
Lack of aldosterone, a mineralocorticoid, prevents the kidneys from retaining sodium (salt) and water, leading to their loss in urine.
This excessive loss of salt and water results in dehydration, hyponatremia, and hyperkalemia, a state known as salt-losing or salt-wasting syndrome.
This condition is a life-threatening emergency, typically presenting in the first few weeks of life.

Option A: Also known as Androgen Insensitivity Syndrome (AIS), this condition is caused by the body's inability to respond to androgens. It does not involve a defect in adrenal enzyme pathways that regulate salt balance.
Option B: This refers to the abnormal development of the gonads (testes or ovaries), often due to chromosomal abnormalities like in Turner Syndrome (45,X). It does not primarily affect adrenal gland function or salt metabolism.
Option C: This is a broad, non-specific term for a variety of conditions where reproductive or sexual anatomy is atypical. While CAH can cause ambiguous genitalia (an intersex condition), the salt-losing aspect is a specific metabolic feature of CAH, not a universal characteristic of all intersex variations.

Clinical Relevance

Nursing practice connection: Knowing Pathophysiology and clinical features of Congenital Adrenal Hyperplasia (CAH) helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Early recognition of a salt-wasting crisis in a newborn is a critical nursing responsibility. Symptoms include poor feeding, vomiting, lethargy, dehydration, and failure to thrive.
Nurses play a key role in educating families about lifelong hormone replacement therapy, sick-day management (requiring stress doses of steroids), and the signs of adrenal crisis.
What if? If a newborn presents with ambiguous genitalia but is not in a salt-wasting crisis, the answer would still point towards CAH as the most likely diagnosis to investigate, but the immediate management would focus on diagnostic evaluation (karyotyping, hormone levels) rather than emergency fluid resuscitation.

How to Approach the Question

First, identify the core concept in the question: 'Salt losing syndrome'. This is a specific clinical sign.
Analyze the options provided. All relate to endocrine or developmental disorders.
Recall or deduce the pathophysiology of each option. Think about which gland and which hormones are affected by each condition.
Connect 'salt losing' to the hormone responsible for salt retention, which is aldosterone, a mineralocorticoid produced by the adrenal glands.
Evaluate which of the listed conditions involves a primary defect in adrenal hormone synthesis that would affect aldosterone production.
This process directly links 'salt losing syndrome' to 'Congenital adrenal hyperplasia', which is defined by adrenal enzyme defects.

Concept Tested & Keywords

Concept Tested: Pathophysiology and clinical features of Congenital Adrenal Hyperplasia (CAH)
Stem keywords: Salt losing syndrome
Lead-in keywords: is a feature of
Negative lead-in flag: false

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