Salt losing syndrome is a feature of

VSSC Nursing Officer - 2021

Medical & Surgical Nursing

Easy

Appeared in: VSSC Nursing Officer - 2021

Explanation

Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders characterized by defects in cortisol biosynthesis.
The most common form, 21-hydroxylase deficiency, accounts for over 90% of cases and can lead to impaired production of both cortisol and aldosterone.
A lack of aldosterone, the primary mineralocorticoid, causes the kidneys to be unable to retain sodium, leading to salt wasting, hyponatremia, hyperkalemia, and dehydration.
This salt-losing crisis is a medical emergency, typically presenting in the first few weeks of life with vomiting, poor feeding, and lethargy.

Option B: Intersex is a broad term for differences in sex development, not a specific disease. While CAH is a common cause of DSD in females and does cause salt loss, the term 'intersex' itself is not the direct cause.
Option C: Gonadal dysgenesis refers to abnormal development of the gonads (e.g., Turner syndrome). This primarily affects sex hormone production and sexual development, not the adrenal production of mineralocorticoids like aldosterone.
Option D: Testicular feminization syndrome, or Androgen Insensitivity Syndrome (AIS), is a disorder of androgen receptor function. The production of aldosterone and the body's response to it are normal.

Clinical Relevance

Nursing practice connection: Knowing Endocrine Disorders and Electrolyte Imbalance helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Nurses play a critical role in identifying newborns at risk for salt-wasting crises by monitoring for poor feeding, vomiting, dehydration, and lethargy. Prompt recognition is vital.
Management of a salt-wasting crisis involves immediate fluid resuscitation with normal saline, correction of hypoglycemia, and administration of stress-dose hydrocortisone.
Parental education is a key nursing responsibility, focusing on lifelong hormone replacement (glucocorticoids and mineralocorticoids), sick day management (stress dosing), and how to administer an emergency hydrocortisone injection.

How to Approach the Question

First, identify the key phrase in the question: 'Salt losing syndrome'. This points to a problem with electrolyte and water balance.
Recall the primary hormone responsible for retaining salt (sodium) in the body, which is aldosterone, produced by the adrenal glands.
Evaluate each option in the context of adrenal function and aldosterone production.
Congenital Adrenal Hyperplasia (CAH) directly involves defects in adrenal steroid synthesis, making it a strong candidate.
Consider the other options: 'Intersex' is a description, not a specific disease causing metabolic issues. 'Gonadal dysgenesis' and 'Testicular feminization syndrome' primarily affect sex hormone pathways, not the mineralocorticoid pathway of aldosterone.
Conclude that CAH is the only condition listed that directly causes a deficiency in aldosterone, leading to a salt-losing state.

Concept Tested & Keywords

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E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed p. 1120-1122

E6 Nelson Textbook of Pediatrics(2024) — Volume 2 p. 1276-1278