The chromosomal mapping indicates:
Correct Answer: Klinefelter syndrome
Description: XXY is indicative of Klinefelter’s Syndrome.
Klinefelter’s syndrome affects approximately 1 in 1000 males and is usually associated with a 47XXY karyotype. However, other cytogenetic variants may be responsible, especially 46XY/47XXY mosaicism. The principal pathological abnormality is dysgenesis of the seminiferous tubules. This is evident from infancy (and possibly even in utero) and progresses with age. By adolescence, hyalinisation and fibrosis are present within the seminiferous tubules and Leydig cell function is impaired, resulting in hypogonadism.
Clinical features
The diagnosis is typically made in adolescents who have presented with gynecomastia and failure to progress normally through puberty. Affected individuals usually have small, firm testes. Tall stature is apparent from early childhood, reflecting characteristically long leg length associated with 47XXY, and may be exacerbated by androgen deficiency with lack of epiphyseal closure in puberty. Other clinical features may include learning difficulties and behavioral disorders, as well as an increased risk of breast cancer and type 2 diabetes in later life. The spectrum of clinical features is wide and some individuals, especially those with 46XY/47XXY mosaicism, may pass through puberty normally and be identified only during investigation for infertility.
Klinefelter’s syndrome is suggested by the typical phenotype in a patient with hypergonadotrophic hypogonadism and can be confirmed by karyotype analysis.
Reference: Davidson’s medicine 23rd ed page no 660
Category:
Pathology
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