What Impact on Phenotype for Patients with Karyotype 46, XX DSD SRY Positive at CHU Dantec in Senegal: About 5 Cases?

Background: In disorders of sexual differentiation, sexual development may not conform to the chromosomal structure, thus forming different types of abnormalities. Among these abnormalities is syndrome 46, XX DSD where most patients are female phenotype with clitoral hypertrophy that can go to complete masculinization especially in the presence of the SRY gene. Objective: The goal of this work is to demonstrate a relationship between the genotype and the phenotype in five patients karyotype 46, XX with the presence of the SRY gene. Methodology: The study involves five patients referred to the laboratory under suspicion of sexual development anomalies. The diagnosis took place through hormonal and echography examinations, a classic cytogenetic study (Barr chromatin and karyotype) and an amplification of the SRY gene located on the Y chromosome. The resulting PCR products were sent for sequencing. Results: Based on the results of clinical and paraclinical tests carried out it was found clitoral hypertrophy, the presence of clitoris penis for some, presence of normal penis for others. In addition, echography revealed a lack of female internal genitalia (P2, P3), and a presence of testicles (P3, P4, P5). Genetic analysis (chromosomal and molecular) showed a karyotype 46, XX SRY (+) for all patients. New mutations were found c.246 T > A, p.82 Asn82Lys and c.171 G > C, p.57 Gln57His. Conclusion: In our study, we were able to correlate each DSD with karyotype 46, XX to a pathology such as 46, XX DSD testicular, 46, XX DSD with clitoral hypertrophy and ovotestis 46, XX. The next step will undoubtedly be the integration of other molecular techniques (genotyping, FISH, CGH or even the CGH array) to further genetic exploration.

Varicocele and DNA Fragmentation in Senegalese Infertile Males—A Study of 95 Cases

Varicocele is the first etiology of infertility in men worldwide and affects almost half of the men dealing with infertility in Senegal. Varicocele is associated with a high rate of sperm DNA fragmentation so this test is being more and more recommended especially when patients have to benefit from an ART (Assisted Reproductive Technology) procedure. The aim of our study was to assess if our patients with varicocele are concerned by higher DNA fragmentation rate in spermatozoon. Sperm samples were collected (95 cases of varicocele and 30 controls) and analyzed between January 2013 and June 2016 in a prospective study. Sperm DNA damage, characterized by the rate of DNA fragmentation was evaluated by TUNEL assay using fluorescence microscopy. There was a significant higher percentage of DNA fragmentation in patients with varicocele (p < 0.001), compared to controls. We plan to study a bigger cohort to assess this tendency and study the benefits of surgery in varicocele by evaluating DNA fragmentation after the procedure.

Male Infertility as a Circumstance of Discovery of Adult Cryptorchidism: A Retrospective Analysis from the Region of Thies

Introduction: The aim of this work is to study the clinical aspects and the impact of cryptorchidism on male infertility in the region of Thies. Patients and methods: This is a retrospective study involving 28 patients followed up at the Saint Jean de Dieu, Barthimée and Tivaouane hospitals of the region of Thies between January 2007 and December 2016. Results: Among the 223 patients followed up for the undescended testicle, 13% (n = 28) were adults or at least 15 years old. 71% (n = 20) were married. Fourteen patients were followed up for primary infertility lasting for a period of time averaging 7 years. The mean age of the patients was 28 years (range: 17 years and 45 years). Cryptorchidism was unilateral in 82% (n = 23) and bilateral in 18% (n = 5). The mean delay of consultation varied from 1 to 13 years. The main reason for consultation was couple infertility (50%). The semen analysis was requested in all our patients. The levels of FSH, LH and testosterone were measured by immunoassay for the patients with azoospermia (n = 9). We noticed 2 cases of hypotestosteronemia and 3 cases of increased FSH serum level. Computed Tomography scans (CT) were performed in 28.5% of patients (n = 8) and ectopic testicles were found very high in the inguinal area in 5 cases. The open inguinal approach was used. In perioperative period, the testicle was found, high in the inguinal region in 5 patients (17.8% of the cases) and low in inguinal region in 19 patients (67.8%). In 4 cases the testicle was in abdominal position. The testicle was atrophied in 53.5% of the patients (n = 15) and 8 patients presented testicular hypotrophy. An orchidectomy was performed in 1 patient in whom it was impossible to lower the atrophied testicle. The postoperative period was uneventful and simple. The mean follow-up duration after the operation was 36 months (12 - 60 months).

Increased DNA Fragmentation in Patients with Infertility in Dakar (Senegal)

The presence of DNA fragmentation in semen is associated with poor results in ART (Assisted Re-productive Technology). This has led to the introduction of sperm DNA integrity testing in the clinical assessment of male infertility. The TUNEL assay is one of the most commonly used tests to measure DNA fragmentation in research studies, but it is now being optimized for routine clinical use. So, the objectives of our study were to install the TUNEL assay in our laboratory and to use it to assess the degree of DNA fragmentation in our patients dealing with couple infertility. Forty seven (47) and 25 samples from patients followed up for infertility and known fertile men were analyzed between August 2013 and July 2015 respectively. The sperm samples were evaluated according to the World Health Organization Guidelines. Sperm DNA damage was assessed by the TUNEL assay, with a standardized protocol that we adapted for reading using fluorescence microscopy instead of flow cytometry. The Sperm DNA Fragmentation Index was significantly higher in patients with infertility compared to the controls (22.2% ± 5.6% vs. 16.7% ± 0.7%) with a p < 0.05. This Index was also high in patients with varicocele compared to the control group (22.8% ± 9.2 vs. 16.7% ± 0.7%) (p < 0.01). After establishing the ROC curve (Receiver Operating Characteristics curve), we found a 15% threshold of DNA fragmentation, separating the patients with infertility from the control group. In our study, a 15% threshold positivity of DNA fragmentation using the TUNEL assay was highly associated with infertility. The results indicate that high level DNA fragmentation is associated with infertility.

Semen Abnormality Patterns and Parameters in Male Partners of Infertile Couples in Dakar (Senegal)

Introduction: Inter individual variation for semen on analysis is well known. Therefore, Semen profile is not the same in individuals from different geographic locations, environments, ways of life, and populations. It is important for a laboratory to have an idea of the semen profile of its population, especially for those who present with infertility. The aim of this study was to draw the pattern of semen abnormalities in male partner of infertile couple in Dakar, Senegal. Materials and Methods: A retrospective study of all the semen samples of male partners of infertile couples submitted for analysis in the laboratory of Cytogenetic and Reproductive Biology of Dakar at the University Teaching hospital from January 2013 to June 2014. Results: A total of 262 male semen analyses were reported. Analysis was performed according to WHO, 2010 manual for examination of human semen. Our study reveals that 80.9% of men in infertile couples present an abnormality in sperm pattern. The main one is oligo-astheno-terato-necrozoospermia (20.2%), followed by azoospermia, (14.1%), astheno-necrospermia (10.3%) and astheno-terato-necro-zoospermia (10.3%). Leucocytospermia was found in 57.8%. Teratozoospermia (80.9%) was the most associated abnormality, followed by necrozoospermia (76.2%). Low sperm count under 5 million per ml concerned 27.7% of the patients, and 11.2% patients had low ejaculate volume. Nearly 42.1% of the male partners are potential candidates for Assisted Reproductive Technology for male infertility. Conclusion: The high rate of semen abnormality in patients of infertile couples and consequently the high rate of potential candidates to Assisted Reproductive Technology for male infertility are important reasons for taking into account rigorously the male subject if we want to improve fertility rate in our context. The pattern of the specific abnormalities found is precious clues to guide management of these patients.

Clinical and Therapeutic Management of Male Infertility in Thies, Senegal

Objective: To evaluate the clinical and therapeutic aspects of male subfertility in the Region of Thies. Patients and methods: This is a retrospective and analytical study involving patients followed for subfertility over a period of 4 years from January 2013 to November 2017 at the level of 3 health structures in the region of Thies. Results: During the period, we collected 201 patients. The average age was 38 ± 8.4 years with a greater distribution in the age group 30-39 years. Primary subfertility was predominant with 81.1% of cases. The average duration was 5 years. We found a history of urethritis (4%) and orchiepididymitis (2.5%). Thirty-three percent of patients presented a varicocele (67 cases). Cryptorchidism was recorded in 2% of cases, testicular hypotrophy in 18.4% and testicular atrophy in 1.5%. The spermogram identified oligospermia-like abnormalities in 40.8% of cases, azoospermia 22.4%, and hypospermia 4%. For the qualitative abnormalities, we recorded cases of asthenospermia in 60.2% of the cases or 121 patients, a necrospermia 58.2% and a teratospermia 20.4%. A combination of these abnormalities was also reported as astheno-necrospermia in 19.4% of cases, oligo-astheno-necrospermia 14.4%, oligo-asthenotera-necrospermia 10% and oligo astero-teratospermia in 2.5%. An assessment of FSH, LH and testosterone was performed in 5.9% of the cases, or 12 patients. Varicocelectomy was performed in 68.4% of cases 19 patients, and (medically) assisted procreation in 2 patients. We recorded 13 cases of pregnancy. Conclusion: Male hypofertility is a real problem of management, and requires a particular approach.

Histopathological study of the kidney after administration of methanolic extract of roots of <i>Leptadenia hastata</i>in the Albino Wistar rat

Introduction: the roots of Leptadenia hastata, (L hastata) are remedies from the Senegalese pharmacopoeia and are as widely used as the leaves. However, few researchers have devoted themselves to their toxicity, unlike the leaves. However, in the traditional pharmacopoeia, the indications for use are very different. The aim of our study was to study the effect of the administration of methanolic extracts of roots of L hastata on renal tissue, using an animal model. Materials and Methods: a cohort of 18 rats was studied with a random distribution of the animals in 3 groups (n = 6). The first group was the control group. The treated groups (Group II and III) received the methanolic extract of L. hastata with an administration of 500 mg / kg / day and 1000 mg / kg / day respectively, for 28 days. Results: The dose of 1000 mg / kg / day was lethal in group III, from the first week in females. Serum creatinine was significantly higher in rats given the root extract. There was kidney damage with vacuolar degeneration starting at 500 mg / kg / day. The lesions were more severe in group III with glomerular involvement characterized by retraction in the renal corpuscles. Conclusion: If the leaves of L hastata seem to be safe for consumption according to the majority of authors in the literature, the roots of this same plant could be harmful. In addition to the lethality observed at the doses tested, the lesions in the renal parenchyma would be dose-dependent.

Histopathologic Profile of Miscarriages during First Trimester of Pregnancy in Teaching Hospital of Grand Yoff in Dakar (Senegal)

Background: Mainly for economic reasons, histopathologic analysis is not a systematic practice in medical structures in Senegal, and the utility of this exam is being questioned by many authors. The purpose of this paper is to report the results of this exam, in our medical practice and try to determine if this exam should be systematic of kept only for individualized cases. Material and Methods: It was a retrospective study from January 2010 to December 2018, carried out in the Laboratory of Pathology of the Teaching Hospital of Grand Yoff in Dakar. The data were collected from the register of pathologic examinations of the laboratory. Results: We registered 543 results of histopathologic examination of products of conception from the first trimester abortion. The women mean age was 22.4 years ± 6.2 with extremes of 17 and 46 years. The routine histopathologic assessment of products of first- trimester miscarriages highlighted in our study three pathologies: hydatidiform mole (24.7%), infection (4.6%) and ectopic pregnancy (0.09%). Only 11.7% of cases of Hydatidiform mole (HM) were suspected before the histopathologic assessment. In our sample, molar pregnancy seems to be higher in anembryonic conception with a prevalence of 45%. The prevalence of Complete Hydatidiform Mole (CHM) was higher than the one of Partial Hydatidiform Mole (PHM) (14.8% vs. 9.9% of miscarriages). Indeed, both require follow up to prevent or manage at time the occurrence of choriocarcinoma. Conclusion: The results of the histologic analysis after abortion in the first trimester of pregnancy show that this exam should be practiced systematically in routine in our context because of high prevalence of hydatidiform mole.

Fetal Ventriculomegaly and Outcomes: About 3 Cases

Introduction: Ventriculomegaly is one of the most common abnormalities detected by prenatal ultrasound. This entity can be associated with brain abnormalities and other malformations. In order to perform a good prenatal counseling, the diagnosis is essential. Objective: Our purpose was to report the management of 3 cases of ventriculomegaly in our practice and underline the benefits of the neuropathologic exam. Methods: We analyzed retrospectively 3 medical files concerning fetus that were diagnosed as having one or two ventricles of >10 mm and a follow up for prenatal diagnosis. Results: All cases were diagnosed between 22 and 27 weeks of gestation by an ultrasound. In a case, the ventriculomegaly evolved rapidly to a hydrocephalus. In two cases, the pregnancy was terminated with medical interruption by the parent’s request. Amniocentesis confirmed the diagnosis of congenital toxoplasmosis in case 2 there were no chromosomal abnormalities after karyotyping. Causes included holoprosencephaly, congenital toxoplasmosis and mesencephalosynapsis. Conclusion: Ultrasonography may detect ventriculomegaly nerverthless in the cases presented, pathology exam was essential to assess the diagnostic. Causes are numerous and prognosis variable. We recommand MRI that is more and more accessible in our regions in the follow up of this entity and neuropathology exam in case of termination of the pregnancy. The establishment of main causes of ventriculomegaly in our regions (infectious causes for example) could help to prevent this outcome in our practice.