Background Male factor is the major contributor in roughly half of infertility cases. Genetic factors account for 10–15% of male infertility. Microdeletions of azoospermia factors (AZF) on the Yq region are the second most frequent spermatogenesis disorder among infertile men after Klinefelter syndrome. We detected in our previous study a frequency of 37.5% AZF microdeletions which investigated mainly the AZFb and AZFc. We attempted in this study for the first time to evaluate the frequencies of all AZF sub-regions microdeletions and to analyze reproductive hormonal profiles in idiopathic cases of azoospermic and oligozoospermic men from Sudan. Methods A group of 51 medically fit infertile men were subjected to semen analysis. Four couples have participated in this study as a control group. Semen analysis was performed according to WHO criteria by professionals at Elsir Abu-Elhassan Fertility Centre where samples have been collected. We detected 12 STSs markers of Y chromosome AZF microdeletions using a multiplex polymerase chain reaction. Analysis of reproductive hormone levels including Follicle Stimulating, Luteinizing, and Prolactin hormones was performed using ELISA. Comparisons between outcome groups were performed using Student’s t-test Chi-square test or Fisher’s exact test. Results AZF microdeletion was identified in 16 out of 25 Azoospermic and 14 out of 26 of the Oligozoospermic. Microdeletion in the AZFa region was the most frequent among the 30 patients (N = 11) followed by AZFc, AZFd (N = 4 for each) and AZFb (N = 3). Among the Oligozoospermic participants, the most frequent deletions detected were in the AZFa region (N = 10 out of 14) and was significantly associated with Oligozoospermic phenotype, Fisher's Exact Test (2-sided) p = 0.009. Among the Azoospermic patients, the deletion of the AZFc region was the most frequent (N = 9 out of 16) and was significantly associated with Azoospermia phenotype Fisher's Exact Test p = 0.026. There was a significant difference in Y chromosome microdeletion frequency between the two groups. The hormonal analysis showed that the mean levels of PRL, LH, and FSH in Azoospermic patients were slightly higher than those in oligozoospermic. A weak negative correlation between prolactin higher level and Azoospermic patients was detected. (AZFa r = 0.665 and 0.602, p = 0.000 and 0.0004, AZFb r = 0.636 and 0.409, p = 0.000 and 0.025, and AZFd r = 0.398 and 0.442, p = 0.029 and 0.015). The correlation was positive for AZFa and negative for AZFb and AZFd. Conclusions We concluded in this study that the incidences of microdeletions of the Y chromosome confined to AZF a, b, c and d regions is 58.8% in infertile subjects with 31.4% were Azoospermic and 27.5% were Oligozoospermic. This might provide a piece of evidence that these specified regions of the Y chromosome are essential for controlling spermatogenesis. These findings will be useful for genetic counseling within infertility clinics in Sudan and to adopt appropriate methods for assisted reproduction.
BACKGROUND:The diagnosis of polycystic ovary syndrome (PCOS) is not an easy procedure, as the signs and symptoms are heterogeneous and of undefined aetiology.AIM:This study is aimed to evaluate serum anti-Mullerian hormone (AMH) level and luteinizing hormone (LH)/folic stimulating hormone (FSH) ratio in women with PCOS in Sudan and to assess the diagnostic efficiency for the diagnosis of PCOS.METHODS:In a case-control study, Serum AMH, LH, FSH was measured in the early follicular phase from Sudanese patients (N = 230) with PCOS and100 controls. The LH/FSH ratio was calculated, and its diagnostic power was evaluated by receiver operating characteristic curves.RESULTS:The means of serum AMH, serum LH level and LH/FSH ratio of the test, were significantly increased in the test group compared to the control group (P-value < 0.000). The AMH sensitivity, specificity, Positive Predictive Value (PPV) and Negative Predictive Value (NPV) were found to be 83%, 99%, 99%, and 72% respectively. Serum AMH was considered adequate measures for the diagnosis of PCOS; its level showed an area under the ROC curve of 0.98 (95% confidence, P-value < 0.000). The best compromise between 98% specificity and 90% sensitivity was obtained with a cut-off value of 3.3 ng/mL for PCOS diagnosis. There was no correlation between age, body mass index (BMI) and AMH level in the test group.CONCLUSIONS:The Serum AMH level and LH/FSH ratio were higher in patients than in control. However AMH level has better discriminative power and good diagnostic potency for the diagnosis of the PCOS among Sudanese women.
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