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 Schizophrenia, bipolar disorder, autism spectrum disorders and ADHD might be overrepresented in Klinefelter syndrome, but previous investigations have yielded inconclusive results. METHODS We compared a national sample of 860 Klinefelter patients in Sweden with 86 000 matched population controls. To assess the risks of schizophrenia, bipolar disorder, autism spectrum disorder and A...

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 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...

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...

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 ...

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 ...

Objectives: To describe a case with the rare association of Klinefelter syndrome (47,XXY) and peripheral sensorimotor polyneuropathy. Clinical Presentation and Intervention: A 50-year-old man with Klinefelter syndrome was referred to our neurology clinic complaining of pain, numbness and tingles in both legs, which began 10 years prior to admission. Two years before admission, the patient had d...