A person having Klinefelter's syndrome is characterized by?

Appeared in: KPSC Staff Nurse - 2016

Explanation

Klinefelter syndrome is a genetic condition with a 47,XXY karyotype, meaning a male has an extra X chromosome.
This leads to primary testicular failure (hypogonadism), resulting in insufficient production of testosterone.
The low testosterone levels cause incomplete virilization and the development of some female secondary sexual characteristics, such as gynecomastia (breast enlargement), reduced facial/body hair, and a more rounded body contour.
Other common features include small, firm testes, tall stature with long limbs, and infertility.

Option B: This describes a female with signs of virilization (developing male characteristics), which is not Klinefelter syndrome.
Option C: This describes a condition where both types of gonadal tissue are present.
Option D: This describes a specific type of Disorder of Sex Development (DSD) but does not match the characteristics of Klinefelter syndrome, where individuals have male internal and external organs, albeit underdeveloped.

Clinical Relevance

Nursing practice connection: Knowing Clinical characteristics of Klinefelter's Syndrome helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Nurses should be aware of the signs of Klinefelter syndrome, such as gynecomastia, learning difficulties, or delayed puberty in adolescent boys, to facilitate early referral and diagnosis.
Patient education is crucial, focusing on testosterone replacement therapy, fertility options (such as testicular sperm extraction), and monitoring for associated health risks like breast cancer, osteoporosis, and autoimmune diseases.
A key nursing role involves providing psychosocial support to help patients cope with body image issues and infertility.

How to Approach the Question

First, identify the key term in the question: 'Klinefelter's syndrome'.
Recall the basic genetic definition of Klinefelter's: a male with an extra X chromosome (47,XXY).
Think through the pathophysiology: The extra X chromosome impairs testicular function.
Connect this to the hormonal outcome: Impaired testes lead to low testosterone production (hypogonadism).
Deduce the physical characteristics: A person who is genetically male but has low testosterone will have incomplete male secondary sexual characteristics and may develop some female ones (like breast tissue).
Evaluate the options based on this deduction. The option describing a male with female secondary sexual characteristics is the correct match.

Concept Tested & Keywords

Q7xOsZ2KDoJ1WN5oRVm_jF

E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed pp. 177-179, 180-182

E6 Medicine Harrison 22e Part 2 p. 1001-1003

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