Cse 27. Klinefelter Syndrome
ثبت نشده
چکیده
Key Points Genetics ● Klinefelter syndrome should be considered as a possible diagnosis among adult men with hypogonadism, infertility, and/or low libido. ● Testosterone replacement therapy can improve the health of men with Klinefelter syndrome. Ethics ● Almost all men with Klinefelter syndrome are infertile, which may raise questions of paternity if an affected male has a child. ● The implications of a genetic diagnosis should be discussed with the patient before ordering the test. Learning Objectives Participants will be able to: ● Describe clinical indicators for workup of Klinefelter syndrome in adult males; ● Explain the appropriateness of pre-test counseling before ordering a karyotype in an adult male suspected of having Klinefelter syndrome; ● List the benefits of testosterone therapy in the treatment of an individual with Klinefelter syndrome. Family History Issues Klinefelter syndrome (47,XXY) is a sporadically occurring chromosome abnormality occurring in approximately 1/500 males. Family history does not represent a risk factor for this condition.
منابع مشابه
Prepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report
Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of...
متن کاملWhat does Klinefelter syndrome mean for men with azoospermia in Japan?
Background & aim: The aim of this study was to explore the men’s perceptions of being diagnosed with Klinefelter syndrome. Methods: This qualitative study was conducted on five azoospermic men diagnosed with Klinefelter syndrome referring to two special infertility treatment clinics for males in Japan. The paqrticipants were selected through purposive sampling technique.The data were collected ...
متن کاملA Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH
متن کامل
Dermatoglyphic Assessment in Down and Klinefelter Syndromes
Background: Dermatoglyphics are the dermal ridge configurations on the digits, palms and soles. Dermatoglyphic polymorphism results from the co-operation of genetic and environmental factors. The Dermatoglyphic analysis is a valuable completion of initial diagnosis of some syndromes genetically determined. Our objective was to assess dermatoglyphics study results against standard chromosomal an...
متن کامل