LES MALFORMATIONS DE LAPPAREIL GENITAL FEMININ SYNDROME OHVIRA : A PROPOS DUN CAS(CONGENITAL MALFORMATIONS OF THE FEMALE GENITAL TRACTOHVIRA SYNDROME : A CASE REPORT)

Congenital malformations of the female genital tract are defined as deviations from the normal anatomy resulting from poor embryonic development of the Mulllerian or para-mesonephricducts. The importance of these malformations varies greatly depending on the stage embryological condition, which can range from a simple vaginal septum to the total absence of a utero-vaginal axis. They are relatively common and affect around 3-4% of women and represent around 10% of the causes of subfertility. Fortunately, many of them are asymptomatic.In thiswork, we report a case of urogenital malformation OHVIRA Syndrome Obstructed HemiVaginawithIpsilateralRenalAgenesis secondary to Müllerian anomalies induced by the mesonephricduct.

Association of neural tube defects with congenital abnormalities of the urogenital system in a Chinese cohort

Background This study aimed to retrospectively analyze the correlation between congenital abnormality of the urogenital system and various factors in children with neural tube defects (NTDs). Methods A total of 190 children with congenital NTDs, who were admitted to a hospital from May 2013 to May 2018, were included into the present study. All admitted children with congenital NTDs were carried out routine abdominal B-ultrasound examinations to determine the malformations of the abdominal organs, including the urinary system. Children with a B-ultrasound result of suspected and unsure malformation underwent intravenous pyelography (IVP) and voiding cysto-urethrography (VCU), and this was further confirmed by the CT results. Results The incidence of urogenital malformation was 12.1% (23/190) in children with congenital NTDs. For the 23 children with urogenital malformations, most of these children had no definite urinary system symptoms, while some of these children had multiple incidences of urinary system infections. Conclusions Congenital NTDs are often combined with urogenital malformations, if not specifically searched these may be overlooked. The early detection of these malformations is beneficial to reduce the risk of operation and improve the prognosis.

Prenatal diagnosis of congenital megalourethra: a rare anomaly

Congenital megalourethra is a rare urogenital malformation characterised by pathological elongation and dilatation of penile urethra. It is a form of functional obstructive uropathy which is associated with significant urological and sexual dysfunction secondary to hypoplasia or absence of corpora cavernosa and spongiosa. We report a case of megalourethra in one of the dichorionic diamniotic twin diagnosed prenatally in a young primigravida. Initial ultrasound report suggested two different diagnoses i.e. omphalocoele and gastroschisis. Later, diagnosis of congenital megalourethra was made on detailed ultrasound examination by our fetal medicine consultant. Postnatal gross and ultrasonographic examination confirmed the prenatal diagnosis. In the present case report, we have emphasized proper perineal anatomical ultrasound examination which revealed a megalourethra. Although this anomaly is not lethal in isolation, but it has worse prognosis in presence of other associated structural anomalies. This anomaly also raises the controversy regarding disclosure of sex of foetus in countries like India where sex disclosure is prohibited by law. As this condition typically affects male foetuses and significantly affects sexual function, it may be necessary to reveal fetal sex for appropriate counselling and prognostication to prospective parents. Ethical dilemma arises for practising clinicians while dealing with isolated forms of megalourethra whether to offer termination of pregnancy on the grounds of having significant impact on sexual life due to erectile dysfunction. Anorectal malformation is often associated with megalourethra, although suspected in the present case, can be difficult to identify antenatally prior to 20 weeks (the time limit up to which legal termination can be performed in India). These issues have been highlighted in the present report.

Alexithymia, Depressive Traits, Patients Suffering from Bladder Exstrophy Complex - Epispadias Sex-Life Versus Individuals not Suffering from Uro-Genital Malformations

Objective: The EEC exstrophy-epispadias complex represents a spectrum of malformations with an incidence of 1/35,000 live births occurring at varying degrees of bladder exstrophy and anatomical-functional alterations of the external genitalia. The appearance of the psycho sexual development has a significant role on the growth of an independent adult self. To compare the presence of alexithymia or depressive traits, difficulties in sexual assertiveness and / or in sex-lives and the life quality in people with EEC with a cohort consisting of unaffected peers. Design and Method: The retrospective case-control observational study included a cohort of EEC cases and a cohort of control groups of subjects not suffering from any urogenital malformation. The criteria for inclusion of cases: confirmed diagnosis of EEC, age>16 years; sex M-F; completion of informed consent and privacy forms. The inclusion criteria of the controls: the absence of any urogenital malformation, age>16; sex M-F; completion of informed consent and privacy forms. The following questionnaires were administered to 35 cases and 35 controls: BDI-II, TAS-20, SF-36, SHF, SAQ. Results: A significant presence of alexitmia and depressive traits has been highlighted in the case cohort. The life quality in the cases score lower in both physical health and mental health compared to the control cohort; while the sex life experiences of the EEC cases significantly differ from the controls also in terms of sexual assertiveness in all four sub-cases Conclusions: The findings raise awareness on the implementation of interventions aimed at improving the verbalization of emotions, the support of depressive discomfort, and sexual assertiveness.

Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands

The morphological and biochemical phenotype ofSome 48 children (37 girls and 11 boys) with CH associated with thyroid ectopy (n=22), agenesis (n=10), hypoplasia (n=6), or thyroid dysgenesis of unknown cause (n=10) were enrolled. The study participants were born in south-eastern Poland in the years 1993–2012 and were selected for neonatal mass screening for CH. DNA was extracted from peripheral blood samples using Master Pure DNA Purification Kit (Epicentre Biotechnologies, Madison, WI, USA). The 12 exons of theNovel heterozygous transition in exon 3 (c.68G>A) was detected in a 3-year-old girl with a thyroid hypoplasia. This substitution was not identified in the patient’s parents (de novo event). Additionally, a novel genetic variant in 3′UTR region of exon 12 (c.*416C>T) occurred in a 3-year-old boy with ectopic thyroid tissue and concomitant congenital urogenital malformation. This heterozygous variant was also detected in other healthy family members. Thirteen well-described single nucleotide polymorphisms were revealed in theThe study reports on the occurrence of two novel heterozygous substitutions in the

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding

Chromosome aberrations or genetic syndromes associated with cloacal-bladder exstrophy complex have rarely been reported. The aim of this report is to describe a 14 year-old female Brazilian patient with a complex urogenital malformation, short stature, lack of secondary sexual characteristics and Y chromosome aberration. A girl with cloacal bladder exstrophy complex was referred for evaluation of short stature and absence of secondary sexual characteristics. Pre-pubertal levels of gonadotropins and sex steroids were observed at the beginning of monitoring, but follow-up showed a progressive increase in testosterone levels. The patient underwent gonadectomy and testicular tissue was identified without dysgenetic characteristics. She had a 46,X,inv(Y)(p11.1q11.2) karyotype, normal SRY sequence, and no Y deletions. The pericentric inversion of Y chromosome apparently did not contribute to the development of the complex urogenital malformation in this patient. Currently, no teratogenic agent, environmental factor, or defective genes have been recognized as etiologic factors for this type of urogenital malformation.