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 ...

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 implica...

Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a "Klinefelter variant." Because of distinct cli...

BACKGROUND Although patients with Klinefelter syndrome have elevated risk and incidence rates for several solid cancers, reports on the incidence of hematological malignancies have been equivocal. CASE REPORT We report a patient diagnosed with angioimmunoblastic T-cell lymphoma in whom Klinefelter syndrome was newly detected. Moreover, we discuss the development of a variety of lymphomas in pat...

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...

We present a man with refractory leg ulcers, bilateral varicosis of the lower extremities, and Buerger disease. Autoimmune work-up was negative. However, chromosome analysis showed Klinefelter syndrome (48 XXY). Ulcerative lesions of the lower extremities are a complication of Klinefelter syndrome. To date, the pathogenesis of ulcers in Klinefelter syndrome has not been clarified, but several f...

microRNAs are a type of small non-coding RNAs which play important roles in post-transcriptional gene regulation, and the characterization of microRNA expression profiling in peripheral blood mononuclear cells (PBMCs) from patients with Klinefelter syndrome requires further investigation. In this study, PBMCs were obtained from patients with Klinefelter syndrome and normal controls. After prepa...

klinefelter syndrome includes a group of chromosomal disorders with at least one  additional  x  chromosome  in  male  karyotype  (46,xy).  up  to  now, different dental manifestations such as taurodontism, congenital absence of permanent teeth, shovel incisors, occlusal anomalies and increased permanent tooth size have been reported. a case of klinefelter syndrome with very rare dental feature...

Klinefelter syndrome is an underdiagnosed chromosomal disorder that has significant implications for health and for medical management. This report presents 5 adult male patients diagnosed with previously unsuspected Klinefelter syndrome as a result of cytogenetic testing for suspected hematologic malignancies. This case series highlights the importance of maintaining a comprehensive and holist...

AIM OF THE STUDY: The investigation of the influence of anti-opioid drug on hypophyseal and gonadal hormones secretion in case of Klinefelter syndrome. MATERIAL AND METHODS: The naloxone test (0,4 mg iv) was performed in 14 patients with Klinefelter syndrome aged from 19 to 32 and in 12 age matched control subjects with azoospermia and normal spermatogenesis in testicular histology. The plasma ...