Which of the following is the karyotype of male who is sexually under developed with rudimentary testes and prostate glands, sparse pubic and facial hair, long arms and legs and large hands & feet?
Correct Answer: 46, XXY
Description: Male in the question stem is showing features of kleinfelters syndrome. It is a male hypogonadism with two or more X chromosomes and one or more Y chromosome. Classical pattern of klienfelters syndrome is associated with a 47 XXY karytotype. This results from nondisjunction during meiotic division in one of the parents. Clinical features include eunuchoid body habitus with abnormally long legs. Testis is small and atrophic, associated with a small penis. Lack of secondary male sexual characters such as deep voice, beard, male distribution of pubic hair. Gynecomastia is present. IQ is lower than normal, mental retardation is uncommon. Plasma gonadotropin level especially FSH is elevated, whereas testosterone level is reduced. Mean plasma estradiol level is elevated. Ref: Robbins Pathologic Basis of Disease, 6th Edition, Page 174
Category:
Pathology
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