Cretinism is caused by the congenital deficiency of?

KPSC Staff Nurse - 2015

Pediatric Nursing

Easy

Appeared in: KPSC Staff Nurse - 2015

Explanation

Cretinism is the medical term for severe, untreated congenital hypothyroidism, a condition present from birth.
It is caused by an inborn lack of thyroid hormone, which is essential for the normal development of the brain and skeleton.
The deficiency can arise from an absent or underdeveloped thyroid gland, a genetic defect in hormone production, or severe maternal iodine deficiency.
Without thyroid hormone, an infant suffers from impaired neurological function and stunted physical growth, leading to irreversible intellectual disability and dwarfism if not treated promptly.

Option B: A deficiency of parathormone causes hypoparathyroidism, which leads to hypocalcemia (low blood calcium). This manifests as neuromuscular irritability, such as tetany and seizures, not the developmental defects seen in cretinism.
Option C: A deficiency of antidiuretic hormone (ADH) causes diabetes insipidus, a condition characterized by the inability to concentrate urine, leading to severe polyuria (excessive urination) and polydipsia (intense thirst).
Option D: Adrenaline (epinephrine) is a catecholamine involved in the acute stress ('fight-or-flight') response. Its deficiency is not associated with congenital growth and developmental disorders like cretinism.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Etiology of Cretinism (Congenital Hypothyroidism) as background academic context rather than a clinical decision trigger.
The prevention of cretinism is a major public health success story, underscoring the critical importance of newborn screening programs.
Nurses play a key role in collecting the heel-prick blood sample for screening, educating parents about the test, and managing follow-up for abnormal results.
Prompt initiation of thyroid hormone replacement (levothyroxine) is a time-sensitive nursing priority. Delays beyond the first few weeks of life can result in permanent neurological damage.

How to Approach the Question

First, identify the core concept in the question stem: 'Cretinism'.
Recognize this as a factual recall question about an endocrine disorder.
Access your knowledge base about the functions of the major hormones listed in the options.
Evaluate each option: Parathormone (calcium), ADH (water balance), Adrenaline (stress response), and Thyroid hormone (metabolism and development).
The term 'congenital' implies a condition present at birth that affects development. Thyroid hormone is the most critical hormone for neonatal brain and physical development among the choices.
Therefore, conclude that a congenital deficiency of thyroid hormone is the cause of the severe developmental defects characteristic of cretinism.

Concept Tested & Keywords

QJvvSCS87n7xalyXsVo849

E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed p. 1077-1079

E6 PATHOLOGY QUICK REVIEWBased on Harsh Mohan Textbook of PATHOLOGY p. 245-247

E6 Medicine Davidson Principles Practice 24e p. 670-672