The perineal midsagittal view in male fetuses - pivotal for assessing genitourinary disorders.

A wide range of genitourinary pathologies can be diagnosed in utero, from a simple vesicoureteral reflux to a more complex disorder of sexual differentiation. The prognosis and neonatal management of these conditions differ significantly. Evaluation of the fetal perineal anatomy is paramount to making the right diagnosis. The aim of this pictorial essay is to show sonographers how to acquire a perineal midsagittal view in a male fetus, and to demonstrate how this specific view allows assessment of the urethra and penis, to differentiate various genitourinary pathologies.

SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens.

BACKGROUND: The pathophysiology of Taiwanese congenital bilateral absence of the vas deferens (CBAVD) is different from that in Caucasians. In particular, major cystic fibrosis transmembrane conductance regulator (CFTR) mutations and cystic fibrosis are absent in the former. Instead, deficiency in solute carrier family 9 sodium/hydrogen exchanger isoform 3 (SLC9A3) may play a role by generating obstructive azoospermia and degraded epithelial structure in the reproductive tract. OBJECTIVES: The objective of the study was to test whether SLC9A3 variants cause Taiwanese CBAVD. MATERIALS AND METHODS: Six-month-old Slc9a3 -/-male mice were used to evaluate the effect of long-term SLC9A3 loss on the reproductive system. A case-control cohort of 29 men with CBAVD and 32 fertile men were genotyped for SLC9A3 variants. RESULTS: SLC9A3 was expressed and localized in the apical border of the epithelium of human vas deferens and glandular epithelium of the seminal vesicle. SLC9A3 deficiency specifically induces atrophy of vas deferens and unfolding of seminal vesicle mucosa in mice. Loss of SLC9A3 increased the incidence of CBAVD in humans from 3.1% to 37.9% (p < 0.001). Up to 75.9% of CBAVD patients carry at least one variant in either SLC9A3 or CFTR. DISCUSSION: Our findings build upon previous data associated with CBAVD pathogenesis. Here, we now report for the first time an association between CBAVD and loss of SLC9A3 and propose that specific defects in the reproductive duct due to SLC9A3 variants drive CBAVD development. CONCLUSION: The data implicate loss of SLC9A3 as a basis of Taiwanese CBAVD and highlight SLC9A3 function in reproduction.

Cysts of the lower male genitourinary tract: embryologic and anatomic considerations and differential diagnosis.

Cysts of the lower male genitourinary tract are uncommon and usually benign. These cysts have different anatomic origins and may be associated with a variety of genitourinary abnormalities and symptoms. Various complications may be associated with these cysts, such as urinary tract infection, pain, postvoiding incontinence, recurrent epididymitis, prostatitis, and hematospermia, and they may cause infertility. Understanding the embryologic development and normal anatomy of the lower male genitourinary tract can be helpful in evaluating these cysts and in tailoring an approach for developing a differential diagnosis. There are two main groups of cysts of the lower male genitourinary tract: intraprostatic cysts and extraprostatic cysts. Intraprostatic cysts can be further classified into median cysts (prostatic utricle cysts, müllerian duct cysts), paramedian cysts (ejaculatory duct cysts), and lateral cysts (prostatic retention cysts, cystic degeneration of benign prostatic hypertrophy, cysts associated with tumors, prostatic abscess). Extraprostatic cysts include cysts of the seminal vesicle, vas deferens, and Cowper duct. A variety of pathologic conditions can mimic these types of cysts, including ureterocele, defect resulting from transurethral resection of the prostate gland, bladder diverticulum, and hydroureter and ectopic insertion of ureter. Accurate diagnosis depends mainly on the anatomic location of the cyst. Magnetic resonance imaging and transrectal ultrasonography (US) are excellent for detecting and characterizing the nature and exact anatomic origin of these cysts. In addition, transrectal US can play an important therapeutic role in the management of cyst drainage and aspiration, as in cases of prostatic abscess.