Zinner and Mayer-Rokitansky-Küster-Hauser syndromes: when unilateral renal agenesis meets genital anomalies

Abstract

Congenital unilateral renal agenesis is a relatively frequent condition at birth diagnosed mostly incidentally. Despite the excellent prognosis, unilateral renal agenesis is associated with an increased risk of other structural abnormalities, including genital malformations. The authors present two cases of asymptomatic adolescents with known congenital unilateral renal agenesis and associated genital malformations solely diagnosed during puberty—a man with Zinner syndrome and a female with Mayer-Rokitansky-Küster-Hauser syndrome.

Unilateral scrotal discomfort in a patient with known renal agenesis: do not forget about Zinner syndrome

“…1 It is considered the male counterpart of Mayer-Rokitansky-Kuster-Hauser female syndrome. 2 Imaging allows the correct diagnosis, which is sometimes incidental, ensuring proper differentiation with other pelvic cystic masses. Seminal vesicle cysts should be differentiated from other cysts such as prostatic utricle cyst (an area of focal dilatation that occurs within the prostatic utricle), mullerian duct cyst (a cyst that arises from remnants of the Müllerian duct) and ejaculatory duct cyst (usually intraprostatic, due to obstruction of the ejaculatory duct which in turn can either be congenital or secondary).…”

“…Symptoms are often non-specific, mostly related to difficulties in voiding and ejaculation and perineal or scrotal pain; it can also cause infertility in up to 45% of patients 1. It is considered the male counterpart of Mayer-Rokitansky-Kuster-Hauser female syndrome 2…”

Screening for Zinner Syndrome in Patients With a Congenitally Solitary Kidney: Lessons Learned

“…The coexistence of a congenital solitary kidney (CSK) with anomalies of the müllerian and wolffian ducts is well recognized, with 30% of females having a concurrent uterine or vaginal anomaly and 10%-12% of males having Zinner syndrome, ie, unilateral absence of the kidney associated with ipsilateral seminal vesicle cysts (SVCs) and ejaculatory ductal obstruction. 1-3 Due to the high incidence of coexisting CSK and müllerian duct abnormalities, it is recommended that all females undergo intermittent screening with a pelvic ultrasound until they are through puberty. 2,3 These recommendations are based on the fact that most uterine or vaginal anomalies only become radiologically visible after post-pubertal hormonally stimulated secretory products accumulate proximal to the areas of ductal atresia.…”

“…2,3 These recommendations are based on the fact that most uterine or vaginal anomalies only become radiologically visible after post-pubertal hormonally stimulated secretory products accumulate proximal to the areas of ductal atresia. 1-3 The screening studies in women are used to diagnose and recommend surgical repair of uterine or vaginal anomalies before the onset of clinical symptoms; severe dysmenorrhea, endometriosis, pelvic inflammatory disease, and infertility. 1-3 Unlike females, no recommendations exist to routinely screen boys with a CSK for a coexisting Zinner abnormality, with 80% of men with Zinner syndrome diagnosed only after developing pharmacologically resistant lower urinary tract symptoms (LUTS) or infertility.…”

“…1-3 Unlike females, no recommendations exist to routinely screen boys with a CSK for a coexisting Zinner abnormality, with 80% of men with Zinner syndrome diagnosed only after developing pharmacologically resistant lower urinary tract symptoms (LUTS) or infertility. 1,4-7…”