ABSTRACT
Klinefelter syndrome (KS) is the most common genetic cause of male infertility. Widespread development in assisted reproductive technology has provided non-mosaic KS patients with the opportunity of having biological children. Testosterone replacement therapy and micro-dissection testicular sperm extraction are effective sperm retrieval techniques for KS patients. Despite the success of sperm retrieval and intracytoplasmic sperm injection (ICSI), some areas of early aggressive hormonal spermatogenesis and appropriate management of KS remain controversial. Androgenotherapy, a common treatment for KS, carries a risk of decreasing focal spermatogenesis by lowering the gonadotropin content. Inadequately treated hypogonadism increases psychosocial morbidity in KS patients. Preventive care must be provided from the time of diagnosis, preferentially through a multidisciplinary approach. This indicates the need for improved genetic counseling of KS patients. The aim of this study was to report the prevalence of non-mosaic KS in a Chinese infertile male population. The rate of early diagnosis was lower in KS patients; most of these were diagnosed after rising concerns of reproductive capacity. The mean age of patients with sperm or germ cells was significantly lower, while the semen volume of these patients was significantly higher. However, the semen volume was negatively correlated with the age and ratio of luteinizing hormone/testosterone content in KS patients. Therefore, genetic counseling of KS patients should focus on early diagnosis and timely treatment, in addition to improving the quality of life of all KS patients. The use of testosterone replacement therapy and/ or micro-dissection testicular sperm extraction should be preferentially considered for fertility preservation.
Subject(s)
Genetic Counseling/methods , Klinefelter Syndrome/diagnosis , Klinefelter Syndrome/therapy , Adult , China , Hormone Replacement Therapy , Humans , Infertility, Male/genetics , Infertility, Male/physiopathology , Infertility, Male/therapy , Karyotype , Klinefelter Syndrome/genetics , Klinefelter Syndrome/physiopathology , Luteinizing Hormone/blood , Male , Quality of Life , Reproductive Techniques, Assisted , Sperm Retrieval , Spermatogenesis/genetics , Testosterone/administration & dosage , Testosterone/bloodABSTRACT
This study aimed to assess the relationship between the recurrence and prognosis of patients with acute middle cerebral artery infarction, atherosclerotic brain infarction, and the existence of microemboli. We continuously enrolled patients with acute atherosclerotic thrombotic cerebral infarction artery stenosis. We performed transcranial Doppler color ultrasound micro emboli monitoring, color Doppler ultrasound carotid artery tests, intracranial and carotid artery magnetic resonance angiography, impairment evaluation of nerve function, and registration of stroke recurrence and stroke mortality. Of the 49 patients enrolled in the study, 123 main arteries presented atherosclerotic stenosis or formed plaques, and 33 patients had symptomatic stenosis. Patients with symptomatic stenosis have a higher incidence of microemboli than patients with asymptomatic stenosis (P = 0.009). The microembolus-positive rate increased in patients with unstable plaques (P = 0.001). Patients who were microembolus-negative were more likely to show a neural function deficient NIHSS (National Institutes of Stroke Scale) score improvement than patients who were microembolus-positive at one week (P = 0.026). However, we found no significant difference between mRS (modified rankin scale) score (P = 0.319), relapse, and death (P = 0.179). The rate of microembolus-positivity increased in patients with atherosclerotic thrombotic cerebral infarction and unstable plaques. Patients who were microembolus-negative were more likely to show an improvement of neural function deficiency than patients with microembolus-positivity at one week (P = 0.026).