True about Turners syndrome?

RUHS, Jaipur, M.Sc Nursing Entrance Exam-2021

Pathology & Genetics (E5)

Easy

Appeared in: RUHS, Jaipur, M.Sc Nursing Entrance Exam-2021

Explanation

Individuals with Turner syndrome (45,X) typically have normal intelligence.
While overall intelligence is within the normal range, there is an increased risk for specific learning disabilities.
These learning challenges often involve nonverbal skills, spatial reasoning (e.g., mathematics, sense of direction), and executive function.

Option A: This is incorrect. Females with Turner syndrome have underdeveloped, non-functional ovaries known as 'streak gonads'. This condition, called gonadal dysgenesis, leads to primary ovarian failure and infertility.
Option C: This is incorrect. Due to ovarian failure and the consequent lack of estrogen production, females with Turner syndrome experience absent or incomplete breast development and do not undergo puberty spontaneously.
Option D: This is incorrect. Short stature is one of the most consistent and universal features of Turner syndrome. The average adult height without treatment is around 143 cm (4'8").

Clinical Relevance

Nursing practice connection: Knowing Clinical features of Turner Syndrome helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Nurses play a key role in the early identification of Turner syndrome by recognizing signs like short stature, delayed puberty, and characteristic physical features during routine check-ups.
Management involves a multidisciplinary team. Nursing care includes administering growth hormone and estrogen replacement therapy, monitoring for associated cardiac and renal anomalies, and providing psychosocial support for issues related to infertility and body image.
What if? If a teenage patient presents with short stature for her age and has not started developing breasts or menstruating, the nurse should consider Turner syndrome as a differential diagnosis and ensure the patient is referred to a pediatric endocrinologist for evaluation, including a karyotype analysis.

How to Approach the Question

First, identify the core concept of the question, which is the clinical presentation of Turner syndrome.
This is a factual recall question. You need to access your knowledge about the specific characteristics of this genetic condition.
Evaluate each option against the known phenotype of Turner syndrome.
Option A (Normal gonads): Recall that Turner syndrome causes gonadal dysgenesis (streak gonads). So, this is false.
Option B (Normal Intelligence): Recall that intelligence is generally normal, although learning disabilities can occur. This is a true statement.
Option C (Normal breast): Recall that lack of estrogen from non-functional ovaries prevents normal breast development. So, this is false.

Concept Tested & Keywords

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E6 Nelson Textbook of Pediatrics(2024) — Volume 2 pp. 1305-1307, 1302-1304

E6 Ghai Essential Pediatrics(pp 26-904 of 913) p. 669-671