Ventral-Onlay Buccal Mucosal Graft Urethroplasty of a Perineal Fistula in a 26-Year-Old Patient With 46 XX Male Syndrome: A Case Report.

Substitution urethroplasty with either a flap or graft is the gold standard for treating long segment urethral strictures. In 1992, Burger and colleagues rediscovered and popularized buccal mucosal graft (BMG). After that El-Kassaby and colleagues, in 1993, used BMG to repair anterior urethral stricture. De la Chapelle syndrome or 46 XX male syndrome is a rare genetic disorder found in 1 in 20,000-25,000 men. This condition described as a presentation of male phenotype along a 46 xx karyotype. In this case report, we report a reconstructive surgery of a 46 XX male syndrome with ambiguous genitalia who presented with the chief complaint of bulbar urethral fistula opened in the perineal space. In this case, we used a buccal mucous graft with the ventral-onlay urethroplasty technique for reconstructing the failed bulbar urethra and closure of the fistula.

A missense mutation in NR5A1 causing female to male sex reversal: A case report.

Testicular disorder of sex development (TDSD) is a rare condition, characterised by a female karyotype, male phenotype, small testes and cryptorchidism. Only a few studies have investigated the genetic causes of male sex reversal. This is the clinical report of an Iranian 46,XX patient presented with TDSD and associated with hypospadias. Whole-exome sequencing (WES) of the patient ascertained the heterozygous missense variant (c.274C>T) in the NR5A1 gene, resulting in a substitution of arginine with tryptophan. The arginine 92 residue was located in a highly conserved region of steroidogenic factor 1 (SF1), which is crucial for its interaction with DNA. Our finding is in line with previous reports, which highlighted the role of p.(Arg92Trp) variant in TDSD individuals. As far as we are aware, this is the first report of TDSD with p.(Arg92Trp) variant in the Iranian population.

46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review.

Background and objectives: XX male syndrome is part of the disorders of sex development (DSD). The patients generally have normal external genitalia and discover their pathology in adulthood because of infertility. There are no guidelines regarding XX male syndrome, so the aim of our study was to evaluate the literature evidence in order to guide the physicians in the management of these type of patients. Materials and Methods: We performed a systematic review of the available literature in September 2018, using MEDLINE, Web of Science, Embase and Google Scholar database to search for all published studies regarding XX male syndrome according to PRISMA guidelines. The following search terms were used: "46 XX male", "DSD", "infertility", "hypogonadism". Results: After appropriate screening we selected 37 papers. Mean (SD) age was 33.14 (11.4) years. Hair distribution was normal in 29/39 patients (74.3%), gynecomastia was absent in 22/39 cases (56.4%), normal testes volume was reported in 0/14, penis size was normal in 26/32 cases (81.2%), pubic hair had a normal development in 6/7 patients (85.7%), normal erectile function was present in 27/30 cases (90%) and libido was preserved in 20/20 patients (100%). The data revealed the common presence of hypergonadotropic hypogonadism. All patients had a 46,XX karyotype. The sex-determining region Y (SRY) gene was detected in 51/57 cases. The position of the SRY was on the Xp in the 97% of the cases. Conclusions: An appropriate physical examination should include the evaluation of genitalia to detect cryptorchidism, hypospadias, penis size, and gynecomastia; it is important to use a validated questionnaire to evaluate erectile dysfunction, such as the International Index of Erectile Function (IIEF). Semen analysis is mandatory and so is the karyotype test. Abdominal ultrasound is useful in order to exclude residual Müllerian structures. Genetic and endocrine consultations are necessary to assess a possible hypergonadotropic hypogonadism. Testicular sperm extraction is not recommended, and adoption or in vitro fertilization with a sperm donor are fertility options.

Cytogenetic analysis of patients with primary amenorrhea in Eastern India.

Amenorrhea is the absence of menstruation in women of reproductive age. Previous reports suggest that chromosomal abnormality is the second most common cause of amenorrhoea. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in amenorrhoea patients. This was an observational study which was conducted in Vivekananda Institute of Medical sciences, Kolkata, during January 2013-December 2015. This study aims to estimate the frequency and types of chromosomal abnormalities in primary amenorrhoea (PA) patients in Eastern India and correlate their hormonal profile with chromosomal reports. Clinical features of 150 patients were recorded with clinical expertise. Peripheral venous blood was taken following informed consent, followed by karyotyping for chromosomal analysis. Results revealed 76.1% of PA with normal female karyotype (46, XX) and 23.9% with different abnormal karyotypes. Among the abnormal karyotype constituents, 50% numerical abnormalities, most frequent being Turner syndrome, pure (n = 12, 8%) and mosaic (n = 5, 3.3%). Three cases (2%) showed male (XY) karyotype. The other cases showed X structural abnormalities. This study emphasises the need for cytogenetic analysis as integral part of the diagnostic protocol in case of PA for precise identification of chromosomal abnormalities and for appropriate management and counselling of these patients.

Splenogonadal fusion and sex reversal.

Splenogonadal fusion is a rare congenital malformation where an abnormal union occurs between the spleen and gonad or mesonephric derivatives. Although it occurs in females it is much less prevalent than in males (male:female ratio, 16:1), but this may partly be because of the inaccessibility of the female gonads leading to under-diagnosis. To our knowledge this is the first case of splenogonadal fusion associated with sex reversal reported in the literature.