A Case of Congenital Urethrovaginal Fistula in a Female Child with Suspected Imperforate Hymen: A Case Report

Urethrovaginal fistula is an abnormal communication between the urethra and vagina. Urethrovaginal fistula results in urinary incontinence with urine continually leaking from the vagina. In children congenital anomaly may also be the cause. Congenital Urethrovaginal fistula is an extremely rare genitourinary anomaly. The reported five cases in the literature are all associated with urogenital abnormalities like vaginal septum, vaginal agenesis and imperforate hymen. We present a case of a 7-year-old female that was referred from a peripheral hospital for micturating cystourethrography (MCUG) on account of urinary incontinence and passage of urine from vaginal orifice. Following MCUG the urethra, proximal fistula between the urethra and vagina, distended urinary bladder, contrast opacified uterus and a fallopian tube were all demonstrated. We report this case because of its rarity in the literature.

Overlap of vitamin A and vitamin D target genes with CAKUT-related processes

Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are a group of abnormalities affecting the kidneys and their outflow tracts, which include the ureters, the bladder, and the urethra. CAKUT patients display a large clinical variability as well as a complex aetiology, as only 5% to 20% of the cases have a monogenic origin. It is thereby suspected that interactions of both genetic and environmental factors contribute to the disease. Vitamins are among the environmental factors that are considered for CAKUT aetiology. In this study, we collected vitamin A and vitamin D target genes and computed their overlap with CAKUT-related gene sets. We observed significant overlaps between vitamin A target genes and CAKUT causal genes, or with genes involved in renal system development, which indicates that an excess or deficiency of vitamin A might be relevant to a broad range of urogenital abnormalities.

Recurrent formation of haematocolpos in a young girl with multiple congenital anomalies of the urogenital tract

An 11-year-old girl, a known case of left crossed fused renal ectopia and sacral hypoplasia presented to the gynaecological OPD in Karachi, Pakistan, in February 2019 with complaints of abdominal pain. On examination, she was found to have a septum covering her vaginal orifice. She was subsequently diagnosed with haematocolpos secondary to imperforate hymen. Incision and drainage was done. However, despite surgical management, she continued to have recurrent formation of haematocolpos for the next two months secondary to multiple complete and partial transverse vaginal septa and post-operative formation of adhesions. Definitive management was done with ultrasound guided needle puncture and drainage, followed by post-operative tampon use to maintain patency. Keywords: Haematocolpos, urogenital abnormalities, Continuous...

A RNF12-USP26 amplification loop promotes germ cell specification and is disrupted in urogenital disorders

SummaryUbiquitylation regulates all aspects of development, and components are frequently mutated in developmental disorders. Tonne-Kalscheuer Syndrome (TOKAS) is a X-linked multiple congenital anomaly disorder caused by mutations in the E3 ubiquitin ligase RNF12/RLIM and characterized by intellectual disability and urogenital abnormalities. However, the molecular underpinnings of TOKAS remain largely unknown. Here, we show that RNF12 catalytic activity relieves gene repression to drive a transcriptional program required for germ cell development and priming of pluripotent cells towards the germline. A major feature of the RNF12-dependent gametogenesis gene program is a transcriptional feed-forward loop featuring the deubiquitylase Usp26/USP26. Usp26/USP26 induction stabilises RNF12 to amplify transcriptional responses, which is disrupted by RNF12 TOKAS mutations and USP26 variants identified in patients with fertility defects. In summary, we uncover remarkable synergy within a ubiquitylation cycle that controls expression of key genes required for germ cell development and is disrupted in patients with urogenital abnormalities.

Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency

ObjectivesSevere congenital neutropenia (SCN) is a primary immunodeficiency (PID) characterized by persistent severe neutropenia, recurrent infections, and oral aphthous lesions. Severe congenital neutropenia is caused by various genetic defects such as ELANE, GFI, HAX-1, JAGN1, SRP54, and glucose-6 phosphatase catalytic subunit 3 (G6PC3) deficiency. Clinical features of the patients with G6PC3 deficiency vary from neutropenia to several systemic features in addition to developmental delay.Case presentationIn this report, we presented three unrelated patients diagnosed with G6PC3 deficiency. All these patients had short stature, prominent and superficial vascular tissue, cardiac abnormalities (Atrial septal defect (secondary), mitral valve prolapse with mitral insufficiency, pulmonary hypertension) and lymphopenia. Patient 1 (P1) and 2 (P2) had urogenital abnormalities, P2 and P3 had thrombocytopenia.ConclusionsWe have shown that lymphopenia and CD4 lymphopenia do not rarely accompany to G6PC3 deficiency. Characteristic facial appearance, systemic manifestions, neutropenia could be the clues for the diagnosis of G6PC3 deficiency.

Ectopic Ureter in Single System Kidney in Association with Anorectal Malformation in Male Patient

Anorectal Malformations (ARM) are known to be associated with urogenital abnormalities. However, the incidence of ectopic ureter in these patients is rare. This report is about a two-year-old male child with ARM. The patient presented after a failed Posterior Sagittal Anorectoplasty (PSARP). The presenting complaint was urinary leak from rectum. Subsequently, the patient was taken up for redo-PSARP. During surgery, bilateral ectopic ureters were identified, incidentally. Surgeons operating on the patients of ARM should be vigilant about this rare association of ectopic ureter with ARM, so as to avoid its injury during perineal dissection.

Unusual variant of inverted Y ureteral duplication with an ipsilateral seminal vesicle cyst and renal dysgenesis

Inverted Y malformation is a rare variant of ureteral duplication with a marked female predominance. We describe a case of inverted Y ureteral duplication with concurrent ectopic ureteral insertion into a seminal vesicle cyst, a ureterocoele and renal dysgenesis, which occurred in a 29-year-old man with lower urinary tract symptoms, haematospermia and postcoital discomfort. To our knowledge, this is the first reported case with this constellation of urogenital abnormalities.