Numan Baydilli

Association between Body Mass Index, Lipid Profiles, and Types of Urinary Stones

Objective: The purpose of this study was to determine the differences in body mass index (BMI), levels of cholesterol, and levels of triglycerides (TGs) among urolithiasis patients with different stone compositions. Materials and methods: Forty-nine patients who had a diagnosis of nephrolithiasis and had undergone open surgery or percutaneous surgery were included, and patients without urolithiasis were randomly selected as controls. Urinary stones were collected and analyzed using infrared spectroscopy. Data relating to patient’s age, BMI at diagnosis, serum total cholesterol (TC), high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol (LDL-C) were collected. The stone groups including calcium oxalate monohydrate-calcium oxalate dihydrate (COM-COD), COM, and uric acid were compared with one another and with the control group. In addition, the stone formers group (COM-COD, COM, uric acid, calcium phosphate, and mixed-type stones) was compared to the control group. Results: BMI, TC, and TG levels were significantly higher in stone formers compared with the control group; this association of BMI and TC with stone formation was more prominent in uric acid and COM-COD stone formers, but there was no such prominence for COM stones. LDL-C levels in COM-COD stone formers were significantly higher when compared with COM stone formers. Conclusion: Elevated BMI, hypercholesterolemia, and hyperlipidemia, which are leading components of metabolic syndrome, may be associated with different types of urinary stone formation.

Klinefelter's syndrome with unilateral absence of vas deferens

OBJECTIVE To report a case of Klinefelters syndrome with unilateral absence of vas deferens. DESIGN Case report. SETTING Tertiary-care infertility clinic. PATIENT(S) A 28-year-old man with the complaint of infertility. INTERVENTION(S) None. MAIN OUTCOME MEASURE(S) Physical examination, genetic and hormonal evaluation. RESULT(S) Both testicles were approximately 2 mm, and unilateral vas deferens was not palpable. Hormonal evaluation revealed hypergonadotropism, and genetic studies revealed a 47,XXY karyotype and delta F508 mutation of the cystic fibrosis gene. CONCLUSION(S) To our knowledge there are no previous reports of both conditions (Klinefelters syndrome and unilateral absence of vas deferens) existing simultaneously. A detailed physical examination seems mandatory for patients seeking treatment for infertility, to determine any possible deleterious health-related condition(s) for both themselves and offspring.

Three cases of Klinefelter's syndrome with unilateral absence of vas deferens

Genital abnormalities such as congenital uni/bilateral absence of the vas deferens are very rare in Klinefelters syndrome. Here, we report three cases of Klinefelters syndrome with unilateral absence of the vas deferens. All cases had small testicles, and unilateral vas deferentia were not palpable. Hormonal evaluations revealed hypergonadotropism. One case had elevated prolactin level, and pituitary adenoma was detected by magnetic resonance imaging. All cases were diagnosed as Klinefelters syndrome (one of them had mosaicism) cytogenetically, and some CFTR gene mutations were detected. To our knowledge, this is the first case series of both conditions existing simultaneously.

Assessment of the Effects of Access Count in Percutaneous Nephrolithotomy on Renal Functions by Technetium-99m-Dimercaptosuccinic Acid Scintigraphy

Objective. To determine the effects of percutaneous nephrolithotomy on renal functions by using DMSA scintigraphy while considering access counts. Material and Methods. A total of 37 patients who had undergone percutaneous nephrolithotomy were included. Preoperative DMSA scans were performed a day before the surgery, whereas postoperative scans were randomized by evaluating them before (n = 25) and after (n = 12) the 6th postoperative month. Twenty-six of 37 cases underwent percutaneous nephrolithotomy with a single access site and 11 with multiple access sites. Results. There were no significant changes of total renal functions in the whole study group (P = 0.054). In the single access group, total functions were significantly elevated (P = 0.03) In the multiple access group, while treated site functions were significantly decreased (P = 0.01), total functions did not change significantly (P = 0.42). There was an insignificant decrease in those evaluated before the 6th postoperative month (P = 0.27) and an insignificant increase in the others (P = 0.11). Conclusion. We could not find a superiority of single access over multiple accesses. There is a temporary functional loss in the treated site.

Increased Femoral Cartilage Thickness in Patients With Klinefelter Syndrome

The objective of this study was to determine femoral cartilage thickness (FCT) in patients with Klinefelter syndrome (KS), which is the most common sex chromosome disorder in men with varying degrees of androgen deficiency. This cross-sectional controlled study was conducted in a tertiary care center. Participants were 33 male patients (mean age = 36.2 years) with KS and 35 aged-matched healthy male controls (mean age = 32.9 years). Femoral condyle cartilage was measured by ultrasonography at three locations in each knee. Total testosterone, estradiol, sex hormone binding globulin, free androgen index, bioavailable testosterone, and albumin levels were measured. Femoral cartilage of patients at right and left knee lateral (3.03 and 2.99 mm), mid (3.81 and 3.74 mm), and medial (3.01 and 3.20 mm) were statistically thicker than in controls (right and left knee lateral 2.29 and 2.36 mm, mid 2.64 and 2.53 mm, medial 2.39 and 2.32 mm, respectively, p < .001). There was no significant correlation between FCT and sex hormones. In conclusion, patients with KS had thicker femoral cartilage. Relatively low testosterone levels in these patients and altered estrogen metabolism may hypothetically explain increased cartilage thickness in these patients.

Artificial Neural Network for the Prediction of Chromosomal Abnormalities in Azoospermic Males

PURPOSE To evaluate whether an artifical neural network helps to diagnose any chromosomal abnormalities in azoospermic males. MATERIALS AND METHODS The data of azoospermic males attending to a tertiary academic referral center were evaluated retrospectively. Height, total testicular volume, follicle stimulating hormone, luteinising hormone, total testosterone and ejaculate volume of the patients were used for the analyses. In artificial neural network, the data of 310 azoospermics were used as the education and 115 as the test set. Logistic regression analyses and discriminant analyses were performed for statistical analyses. The tests were re-analysed with a neural network. RESULTS Both logistic regression analyses and artificial neural network predicted the presence or absence of chromosomal abnormalities with more than 95% accuracy. CONCLUSION The use of artificial neural network model has yielded satisfactory results in terms of distinguishing patients whether they have any chromosomal abnormality or not.

Do positional variations of epididymis affect infertility

OBJECTIVE To determine the ratio of epididymal position variations and whether this had any effect on seminal parameters. MATERIAL AND METHODS Scrotal examination results and epididymal positions were retrospectively assessed in subjects presenting to our clinic for infertility, varicocele, and sexual developmental delay. Scrotal examination consisted of epididymal position, testicular volumes, and vas deferens and varicocele presence. The subjects were categorized according to sperm counts per mL. Data were assessed whether there was a significant difference in terms of epididymal positions among the groups. RESULTS A total of 5812 epididymides were examined. There was no significant difference with respect to one or two epididymides being in an anterior position between the groups allocated with respect to a sperm count above 15 million per mL, between 5 and 15 million per mL, and below 5 million per mL (p=0.542). Sperm counts and motility did not differ according to the position of the epididymis in analyzes performed separately within each group. CONCLUSION Positional variations of epididymis can be seen at a considerable rate. Nevertheless, there was no clear relationship between these variations and infertility. In terms of avoiding possible misdiagnoses and treatment complications possible epididymal position variations should be kept in mind during clinical practice.

The frequencies of Y chromosome microdeletions in infertile males

OBJECTIVE To determine the frequencies and the characteristics of Y chromosome microdeletions in infertile males. MATERIAL AND METHODS The records of 1616 infertile males were included in the study. The cases were divided into groups according to the infertility etiology and semen analysis. The frequencies and the characteristics of Y chromosome microdeletions were investigated in groups. RESULTS Y chromosome microdeletion was detected in 54 (3.3%) of 1616 cases. Microdeletions in the azoospermia factor (AZF) region were the most common (48.1%). When the cases were grouped according to causes of infertility that could be detected, no Y chromosome microdeletions were detected in some groups (cases with Klinefelter Syndrome, hypogonadotropic hypogonadism, congenital absence of vas deferens, and 47, XYY karyotype). CONCLUSION Y chromosome microdeletions were detected quite frequently in certain infertility subgroups. Therefore, detailed evaluation of an infertile man by physical examination, semen analysis, hormonal evaluations and when required, karyotype analysis may predict the patients for whom Y chromosome microdeletion analysis is necessary and also prevent cost increases.

Comorbidity of the congenital absence of the vas deferens

Congenital absence of the vas deferens (CAVD) is a relatively rare anomaly that may contribute to male infertility. The aim of this study was to evaluate the clinical features of patients with CAVD and to emphasise some pathological conditions that may be detected during the infertility work‐up or follow‐up of these patients. The charts of 150 males with the diagnosis of CAVD were evaluated retrospectively. The demographic characteristics, reasons for attendance, the way of diagnosis, interventions for infertility before and after attendance, physical examination findings, reproductive hormone levels, semen analysis results, genetical analysis results and resultant live birth events were all included in the study. There were 101 bilateral and 43 unilateral CAVD cases. Thirty‐two males (30.2%) had some renal abnormalities. Two cases, one with bilateral and one with unilateral agenesis, died because of colon cancer at a young age. One case with CUAVD had acute lymphoblastic leukaemia. Congenital absence of the vas deferens should not be seen only as a fertility problem because of the many genotypic or phenotypic disorders that may be present with it. These disorders can cause serious general health problems either presently or in future and can also be transmitted to future generations.

A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism

Objective: To present the clinical, chromosomal, and endocrinological features of 8 infertile male cases with the 45,X/46,XY karyotype who were admitted to our infertility clinic. Materials and Methods: The records of cases who were admitted to our infertility clinic between 1999 and 2015 were investigated. Eight cases with 45,X/46,XY were detected. The clinical, endocrinological, and chromosomal assessments were analyzed. Each patient’s height, weight, body mass index, testicular volume, endocrine hormone levels, follow-up period semen analysis, testicular biopsy reports, and karyotype analysis were evaluated retrospectively. Results: Some cases had a short stature, but often their phenotypes were normal. Seven of the cases had normal testosterone levels and all cases, except one, had elevated gonadotropin levels. All cases were azoospermic and testicular biopsy showed Sertoli cell-only syndrome. Peripheral blood karyotype revealed 45,X/46,XY mosaicism in all cases. Metaphase counts and percentages were different. Conclusions: Individuals with 45,X/46,XY mosaicism that have a normal male phenotype form make up a rare subgroup of the 45,X/46,XY karyotype. These individuals usually present with infertility and were diagnosed based on the results of the karyotype analysis during azoo or severe oligospermia evaluation.