Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations?

Klinefelter Syndrome (KS) is the most common chromosomal disorder in men leading to non-obstructive azoospermia. Spermatozoa can be found by TESE in about 50% of adults with KS despite severe testicular degeneration. We evaluated AR variations and polymorphism length in 135 non-mosaic KS patients, aimed to find possible correlation with clinical features, sex hormones and sperm retrieval. Among 135 KS patients we found AR variations in eight subjects (5.9%). All variations but one caused a single amino acid substitution. Four variations P392S, Q58L, L548F, A475V found in six patients had been previously described to be associated with different degrees of androgen insensitivity. Moreover we observed in two patients Y359F and D732D novel variations representing respectively a missense variation and a synonymous variation not leading to amino acid substitution. All the Klinefelter patients with AR gene variations were azoospermic. Spermatozoa were retrieved with TESE for two men (40%), sperm retrieval was unsuccessful in other 3 patients. This is the only study reporting AR variations in KS patients. Relevant clinical differences not emerged between AR mutated and not AR mutated KS patients, but does each variation play an important role in the trasmission to the offspring obtained by ART in this patients

Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders

Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. This condition is associated with much comorbidity and with a lower life expectancy. The aim of this review is to explore more in depth cardiovascular and metabolic disorders associated to KS. KS patients have an increased risk of cerebrovascular disease (standardized mortality ratio, SMR, 2.2; 95% confidence interval, CI, 1.6–3.0), but it is not clear whether the cause of the death is of thrombotic or hemorrhagic nature. Cardiovascular congenital anomalies (SMR, 7.3; 95% CI, 2.4–17.1) and the development of thrombosis or leg ulcers (SMR, 7.9; 95% CI, 2.9–17.2) are also more frequent in these subjects. Moreover, cardiovascular abnormalities may be at least partially reversed by testosterone replacement therapy (TRT). KS patients have also an increased probability of endocrine and/or metabolic disease, especially obesity, metabolic syndrome and type 2 diabetes mellitus. The effects of TRT on these abnormalities are not entirely clear

Recombinant FSH in the treatment of oligozoospermia

BACKGROUND: FSH plays a crucial role in human reproduction. Treatment with gonadotrophins has been shown to be effective in males affected by hypogonadotrophic hypogonadism. The success of this treatment has brought about the utilization of the same therapy in infertile oligozoospermic subjects, aimed at obtaining increased sperm count. This physiological role in spermatogenesis has induced various attempts to treat idiopathic oligozoospermic men with FSH, often inducing the restoration of normal spermatogenesis and spontaneous pregnancy. OBJECTIVE: To evaluate clinical efficacy of recombinant FSH in male infertility. METHODS: Evaluation of pharmacokinetic, pharmacodynamic properties, efficacy and safety of this hormone preparation, on the basis of the data published in literature. CONCLUSIONS: Recombinant FSH is effective, safe and well tolerated. Treatment with this hormone may represent a valid tool for infertile men. However it should be performed on selected patients utilizing some predictive parameters able to identify a priori responder subjects with high probability

Follicle-stimulating hormone treatment of male infertility

PURPOSE OF REVIEW: Treatment with gonadotrophins is very effective in patients affected by hypogonadotrophic hypogonadism. The success of follicle-stimulating hormone (FSH) treatment in these men has brought the utilization of the same therapy in infertile oligozoospermic patients, aimed at obtaining a quantitative increase in sperm count. RECENT FINDINGS: FSH plays a crucial role in human reproduction. This physiological role in spermatogenesis has induced various attempts to treat idiopathic oligozoospermic men with FSH, often inducing the restoration of normal spermatogenesis and spontaneous pregnancy. However, the results obtained so far are still controversial. In this research, attention is focused on the possible criteria able to predict a seminal response to the specific hormonal treatment. Moreover, we have correlated different polymorphisms of FSH receptor gene with the outcome of FSH treatment. In this article, the literature is reviewed, and the authors' experience on using FSH treatment in oligozoospermic patients is discussed. SUMMARY: FSH treatment may represent a valid tool for infertile men. However, it should be performed on selected patients utilizing some predictive parameters able to identify a priori responder patients with high probability

Follicle-stimulating hormone treatment in oligozoospermic patients

Follicle-stimulating hormone (FSH) plays a crucial role in human reproduction. Already, in the fetal and neonatal developmental stages, FSH activates the proliferation of the Sertoli cells and successively, in the pubertal phase, induces the mitotic activity of the spermatogonia and supports cellular differentiation to the round spermatid stage. This physiological role in spermatogenesis has induced various attempts to treat idiopathic oligozoospermic men with FSH. It is well known that treatment with gonadotrophins is very effective in subjects affected by hypogonadotropic hypogonadism, often leading to the restoration of normal spermatogenesis. The success of this treatment in these men has brought the utilization of the therapy with FSH in infertile oligozoospermic subjects, aimed at obtaining a quantitative increase in sperm count. However, the results obtained so far are still controversial. In this article, the literature is reviewed and the authors' experience on using FSH treatment in oligozoospermic subjects is discussed. © 2008 Expert Reviews Ltd

Recombinant FSH in the treatment of oligozoospermia

BACKGROUND: FSH plays a crucial role in human reproduction. Treatment with gonadotrophins has been shown to be effective in males affected by hypogonadotrophic hypogonadism. The success of this treatment has brought about the utilization of the same therapy in infertile oligozoospermic subjects, aimed at obtaining increased sperm count. This physiological role in spermatogenesis has induced various attempts to treat idiopathic oligozoospermic men with FSH, often inducing the restoration of normal spermatogenesis and spontaneous pregnancy. OBJECTIVE: To evaluate clinical efficacy of recombinant FSH in male infertility. METHODS: Evaluation of pharmacokinetic, pharmacodynamic properties, efficacy and safety of this hormone preparation, on the basis of the data published in literature. CONCLUSIONS: Recombinant FSH is effective, safe and well tolerated. Treatment with this hormone may represent a valid tool for infertile men. However it should be performed on selected patients utilizing some predictive parameters able to identify a priori responder subjects with high probability

Follicle-stimulating hormone treatment of male infertility

PURPOSE OF REVIEW: Treatment with gonadotrophins is very effective in patients affected by hypogonadotrophic hypogonadism. The success of follicle-stimulating hormone (FSH) treatment in these men has brought the utilization of the same therapy in infertile oligozoospermic patients, aimed at obtaining a quantitative increase in sperm count. RECENT FINDINGS: FSH plays a crucial role in human reproduction. This physiological role in spermatogenesis has induced various attempts to treat idiopathic oligozoospermic men with FSH, often inducing the restoration of normal spermatogenesis and spontaneous pregnancy. However, the results obtained so far are still controversial. In this research, attention is focused on the possible criteria able to predict a seminal response to the specific hormonal treatment. Moreover, we have correlated different polymorphisms of FSH receptor gene with the outcome of FSH treatment. In this article, the literature is reviewed, and the authors' experience on using FSH treatment in oligozoospermic patients is discussed. SUMMARY: FSH treatment may represent a valid tool for infertile men. However, it should be performed on selected patients utilizing some predictive parameters able to identify a priori responder patients with high probability