Ten cases with 46, XX testicular disorder of sex development: single center experience

ABSTRACT Objective To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic. Cases and Methods Records of the cases who were admitted to our infertility clinic between 2004 and 2015 were investigated. Ten 46,XX testicular disorder of sex development cases were detected. Clinical, hormonal and chromosomal assessments were analized. Results Mean age at diagnosis was 30.4, mean body height was 166.9cm. Hormonal data indicated that the patients had a higher FSH, LH levels, lower TT level and normal E2, PRL levels. Karyotype analysis of all patients confirmed 46,XX karyotype, and FISH analysis showed that SRY gene was positive and translocated to Xp. The AZFa, AZFb and AZFc regions were absent in 8 cases. In one case AZFb and AZFc incomplete deletion and normal AZFa region was present. In the other one all AZF regions were present. Conclusion Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility work-up. Although these cases had no chance of bearing a child, they should be protected from negative effects of testosterone deficiency by replacement therapies.

Age and education influence the performance of elderly women on the dual-task Timed Up and Go test / Idade e educação influenciam o desempenho de mulheres idosas no teste Timed Up and Go com dupla tarefa

Gait variability is related to functional decline in the elderly. The dual-task Timed Up and Go Test (TUG-DT) reflects the performance in daily activities. Objective To evaluate the differences in time to perform the TUG with and without DT in elderly women with different ages and levels of education and physical activity. Method Ninety-two elderly women perfomed the TUG at usual and fast speeds, with and without motor and cognitive DT. Results Increases in the time to perform the TUG-DT were observed at older ages and lower educational levels, but not at different levels of physical activity. More educated women performed the test faster with and without DT at both speeds. When age was considered, significant differences were found only for the TUG-DT at both speeds. Conclusion Younger women with higher education levels demonstrated better performances on the TUG-DT. .

Alterações da marcha são indícios de declínio funcional em idosos. O TUG com dupla tarefa (TUG-DT) reflete o desempenho das atividades do cotidiano. Objetivo Avaliar as diferenças no tempo de execução do TUG com e sem DT em idosas com diferentes faixas etárias, e níveis de escolaridade e atividade física. Método Noventa e duas idosas foram avaliadas pelo TUG nas velocidades usual e máxima, sem e com DT cognitiva e motora. Resultados Houve aumento no tempo de execução do TUG-DT em idosas com maior faixa etária e menor escolaridade, mas não para diferentes níveis de atividade física. Aquelas com maior escolaridade realizaram o teste mais rápido com e sem DT nas duas velocidades. Com relação à faixa etária, foram obervadas diferenças apenas nos testes com DT nas duas velocidades. Conclusão Idosas mais jovens com maior escolaridade demonstraram um melhor desempenho no TUG com DT. .

Serum leptin levels in obese infertile men and women

The present study was designed to evaluate the relationship between serum leptin and infertility in obese young and old men and women. The groups of infertile obese men [n=66] and women [n=30] compared with control obese fertile men [n=60] and women [n=30] with same ages to find the contribution of serum leptin level in causation of fertility. The results revealed that serum leptin were significantly raised in infertile male and female with p<0.001. BMI was also found to be significantly higher [p<0.001] in infertile men and women. Moreover a strong positive correlation was found between BMI and leptin level, and serum leptin and age in both fertile and infertile men and women. The values of correlation coefficients between serum leptin and BMI, and serum leptin and age are statistically significant [r=0.3-0.6, p<0.01-p<0.05]. This study has concluded that obesity is associated with infertility in men and women. Sex hormonal imbalance may also be associated BMI and serum leptin in infertility. However further studies are required to determine the exact match by which enhanced BMI and serum leptin levels to female and male infertility

Evaluation of testosterone hormone and zinc Levels among infertile males in Kirkuk province/ Iraq

Male Infertility is often caused by problems with sperm production or motility. Zinc in human semen seems to play an important role in the physiology of spermatozoa This study was designed to demonstrate the relationships between concentrations of zinc and testosterone in serum and seminal plasma and sperm quality among infertile men. One hundred four infertile males, aged [19-44] years, were selected from Infertile Clinic-Azadi Teaching Hospital- Kirkuk Province. Forty known fertile males were selected as normospermic control group. Semen samples were analyzed according to WHO criteria. Serum and seminal plasma zinc concentrations were estimated by atomic absorption technique. Serum testosterone was measured by MiniVIDAS apparatus. The mean value of serum testosterone was significantly lower in infertile males [4.87 +/- 0.15 ng/ml] as compared to control group [6.41 +/- 0.16 ng/ml]; [P< 0.01], significant correlations were observed between serum testosterone with seminal plasma zinc level in oligospermic subjects [r=0.44] and with serum zinc level in azoospermic subjects [r=0.37], [P< 0.01]; [P< 0.05] respectively. Serum and seminal plasma zinc levels were lower in infertile men [7.75 +/- 0.18 micromol/L]; [0.83 +/- 0.02 mmol/L] when compared with normospermic control group [14.09 +/- 0.27 Mmol/L]; [1.41 +/- 0.01 mmol/L] respectively [p<0.01], Zinc may contribute to fertility through its positive effect on spermatogenesis. Also there was significant decrease in serum and seminal plasma zinc levels in oligospermic and azoospermic infertile males with significantly low androgen. It indicates that the zinc may have a role for steroidogenesis

Antioxidant levels in blood and seminal plasma and their impact on sperm parameters in infertile men.

Excess reactive oxygen species (ROS) beyond the scavenging capacity of antioxidants leads to DNA damage and oxidation of lipoprotein components at the cellular and subcellular level. The oxidative stress (OS) adversely affects sperm function by altering membrane fluidity, permeability and impairs sperm functional competence. In the present study, the OS status in seminal plasma and blood serum in infertile men and its relationship with spermatozoa parameters have been investigated. Four groups of infertile men viz., oligozoospermic (n = 15), asthenozoospermic (n = 17), teratozoospermic (n = 19), and oligoasthenoteratozoospermic (n = 9), and healthy fertile controls (n = 40) have been analyzed for superoxide dismutase (SOD), catalase (CAT), glutathione (GSH) and malondialdehyde (MDA) in seminal plasma and blood serum. Significant correlation between blood serum SOD and sperm count has been observed in patients (p = 0.018) and controls (p = 0.021). Similarly, significant correlation between blood serum GSH and sperm progressive motility in patients (p = 0.036) and controls (p = 0.029) is observed. The low seminal MDA is associated with increase in sperm progressive motility in patients (p = 0.039) and controls (p = 0.028). Positive correlation is found between increased seminal MDA levels and abnormal sperm morphology in both patients and controls (r = 0.523, p = 0.029; r = 0.612, p = 0.034 respectively). Correlations between blood SOD and sperm count and between blood GSH levels and progressive motility suggest that these can be important biochemical markers in assaying the sperm count and motility. A negative correlation of motility with seminal MDA indicates that sperm membrane lipid peroxidation affects the fluidity and thus mobility of sperm axoneme. This affects functional competence of the sperm and acts like a biological safeguard. The results of the present study suggest the prospects of using the blood serum and seminal plasma antioxidants as a valuable tool to evaluate the sperm reproductive capacity and functional competence.

Relationship between blood groups and male infertility

Blood is man's complete and unchangeable identity. The ABO and Rh groups are recognised as major and clinically significant blood groups. Blood group antigens are not only important in relation to blood transfusion and organ transplantation, but also have been utilised in genetic research, anthropology and tracing ancestral relation of humans. The objective the present study is to examine the blood group antigens in infertile men for assessing the relationship to male infertility and to know the frequency of various blood groups among infertile males in our population. A total of 1,521 patients along with 460 proven fathers as controls were recruited for the present study from both rural and urban areas of Pakistan and referred to Department of Reproductive Physiology/Health, Public Health Divisions, NIH, Islamabad, during 2002 to 2006. Blood grouping [ABO] and Rhesus factors [Rh] was done by the antigen antibody agglutination test. Overall distribution of blood groups in the studied population of 1,521 subjects was 35.50%, 28.27%, 26.89% and 9.34% for blood groups O, B, A and AB respectively. The ratio of control to patient was 1:3.3. The present preliminary study revealed that in our population the prevalence of male infertility in blood group O is invariably higher than in all other ABO blood groups, showing a strong relationship between blood group O and male infertility

Variation in serum testosterone levels in male infertility cases

A study was carried out in which male subjects [n=105], with a complaint of infertility, were assessed for their testosterone levels. Serum testosterone levels were determined using Roche Diagnostic Enzymun System. Findings revealed that 22.69% of the population had their testosterone below normal levels, while 10.25% exhibited levels beyond the upper permissible levels. All these patients were absolutely normal in terms of secondary sexual characteristics development, and, could not be phenotypically categorized as either being androgen deficient, or, hyperactive. Upon the bases of these findings, it is concluded that the testosterone levels need to be assessed in all male infertility cases, irrespective of the phenotypic picture of the individual

Fructosa seminal como índice de fertilidad y de estímulo androgénico / Seminal fructose as an index of fertility and of andrgenic stimulus

Se llevó a cabo un análisis en forma prospectiva de 97 varones a quienes se les realizó un espermograma y mediciones de testosterona plasmática y fructosa seminal. El 82% de pacientes se encontraban entre la segunda y tercera década de la vida. La abstinecia sexual fue de tres a cinco en 80.4% de la muestra. Al analizar el coeficiente de Pearson entre fructosa seminal y la motilidad espermática, y entre el azúcar y la testosterona plasmática, no se encontró correlación. Los niveles de fructosa en el semen tampoco se vieron afectados por la cuenta espermática. De lo anterior se concluye que la medición de fructosa en el líquido seminal, no representa un índice de fertilidad y tampoco de estímulo androgénico