Renal Abnormalities in Mayer-Rokitansky-Kuster-Hauser Syndrome

Introduction:

People affected by various syndromes have different clinical presentations involving several systems within the body, thus creating a significant barrier to leading a normal life. In addition to causing physical dysfunctions, the incidence of syndromes also hinders the diagnosis and treatment process, especially if the syndrome is rare. One such rare syndrome causing manifestations across different systems in the body is Mayer-Rokitansky-Kuster-Hauser syndrome, and the renal manifestations of this syndrome are crucial.

What Is Mayer-Rokitansky-Kuster-Hauser Syndrome?

The Mayer-Rokitansky-Kuster-Hauser syndrome is otherwise known as the Mullerian agenesis. In this syndrome, there is the absence of formation of portions of the uterus and vagina in females by birth (congenital). There can be an incomplete or complete absence of the uterus and the upper portion of the vagina formation. This results in amenorrhea (lack of menstruation or periods) and infertility.

Mayer in 1829, Rokitansky in 1838, and Kuster in 1910 independently described the syndrome, and the name Hauser was later included to signify his contributions to explaining and understanding it.

This syndrome is caused by genetic aberrations in the embryonic development of Mullerian ducts, which form the female reproductive parts during embryogenesis.

What Are the Clinical Features of Mayer-Rokitansky-Kuster-Hauser Syndrome?

Mayer-Rokitansky-Kuster-Hauser syndrome is classified as type I because the reproductive system is primarily affected. Type II Mayer-Rokitansky-Kuster-Hauser syndrome is a condition in which other systems are also affected.

Clinical Features Noted Are:

• Lack of initiation of menstruation even till the age of 16. This happens to be the first noticeable sign of Mayer-Rokitansky-Kuster-Hauser syndrome.

• The external genitalia appears normal, but thorough investigative procedures reveal the absence of formation of vaginal and uterus portions.

• Patients have normally developed secondary sexual characteristics like breast development and pubic hair growth despite absent periods.

What Are the Renal Manifestations of Mayer-Rokitansky-Kuster-Hauser Syndrome?

Manifestations of the renal system are seen in individuals with Mayer-Rokitansky-Kuster-Hauser syndrome type 2. The common abnormalities noted are:

• Failure of the kidneys to develop (renal agenesis). Dysplastic kidney formation can also occur when the kidneys are underdeveloped and structurally abnormal. These anomalies are reported to arise due to dysregulated or disrupted early embryonic development of the urinary system. Renal agenesis or dysplasia may lead to complications such as renal insufficiency or hypertension if both kidneys are affected.

• Mayer-Rokitansky-Kuster-Hauser syndrome causes a change in the shape of the formed kidney. Horseshoe-shaped kidneys are commonly seen in this syndrome. Horseshoe kidney is a congenital anomaly where the poles on the lower side of the kidneys are joined together or joined along the midline, forming a horseshoe-shaped structure. While the horseshoe kidney itself may not always cause symptoms, it can be associated with an increased risk of incidence of side effects like infection of the urinary tract or obstruction due to its abnormal positioning.

• In rare cases, people with Mayer-Rokitansky-Kuster-Hauser syndrome have ectopic kidney formation, where the kidneys are located anywhere other than the renal fossa. Urinary tract obstruction and other abnormalities occur secondary to the presence of ectopic kidneys.

• Anomalies are seen in the urinary tract as well. This includes ureteral duplications, vesicoureteral reflux (VUR), or ureteropelvic junction obstruction (UPJ obstruction). These anomalies can predispose individuals to recurrent urinary tract infections, kidney stones, or renal dysfunction.

All these abnormalities can cause severe disturbances in renal function. This is seen as reduced glomerular filtration rate and abnormal kidney function tests.

Along with such renal abnormalities, people with Mayer-Rokitansky-Kuster-Hauser syndrome have defects in hearing (hearing loss), skeletal abnormalities in the spine, and cardiac anomalies (heart defects).

How to Diagnose Renal Abnormalities in Mayer-Rokitansky-Kuster-Hauser Syndrome?

Laboratory and radiological investigations are done to diagnose and monitor the renal manifestations of Mayer-Rokitansky-Kuster-Hauser syndrome.

• The diagnosis and evaluation of Mayer-Rokitansky-Kuster-Hauser syndrome is done initially through a physical pelvic examination. This helps in evaluating the external genitalia, the vagina, and cervix.

• The incidence of amenorrhoea will be noted. Laboratory investigations like hormone tests will be done to diagnose amenorrhoea.

• Evaluation of renal manifestations requires performing tests like urinalysis and renal function tests. These tests show changes in serum creatinine and blood urea nitrogen levels, which signal impaired renal functions. Urinalysis also helps to identify associated kidney dysfunctions like proteinuria or hematuria.

• Ultrasonography will be performed through the transvaginal or trans pelvic route to identify the absence or hypoplasia of the uterus and vagina. This confirms the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. Renal abnormalities like renal agenesis or hypoplasia, ectopically located kidneys, or altered kidney shape can be elicited through ultrasonography procedures.

• MRI may be recommended for further characterization of pelvic anatomy, particularly in cases where ultrasound findings are inconclusive, or to assess the presence of pelvic structures such as the cervix or rudimentary uterus. This may also provide details about the renal anatomy and associated anomalies.

Other investigations done to assess renal abnormalities associated with Mayer-Rokitansky-Kuster-Hauser syndrome are:

• Voiding cystourethrogram assesses vesicoureteral reflux and other urinary tract abnormalities or infections.

• Renal scintigraphy helps to identify the renal cortical integrity and blood flow.

• Optional testing that can be done for this syndrome is genetic counseling, especially if there is someone in the family with Mayer-Rokitansky-Kuster-Hauser syndrome.

How to Manage Renal Manifestations of Mayer-Rokitansky-Kuster-Hauser Syndrome?

For treating Mayer-Rokitansky-Kuster-Hauser syndrome as such, there is a need to create a new vagina called neovagina. This is achieved by surgically dilating the existing vaginal tissue or by a laparoscopic method called the Vecchietti procedure.

Managing renal manifestations of Mayer-Rokitansky-Kuster-Hauser syndrome involves the following.

• For mild forms or people with fewer symptoms, managing this syndrome conservatively is sufficient. However, people with Mayer-Rokitansky-Kuster-Hauser syndrome should be frequently monitored for their blood pressure and other renal parameters.

• Surgical interventions like reconstruction of hypoplastic kidneys or removal of non-functional kidneys may be necessary in advanced cases of Mayer-Rokitansky-Kuster-Hauser syndrome type 2.

In addition, people with Mayer-Rokitansky-Kuster-Hauser syndrome certainly require fertility options like assisted reproduction and hormone replacement therapy for optimal functioning.

Conclusion:

Mayer-Rokitansky-Kuster-Hauser syndrome is a debilitating condition for females, and the presence of renal abnormalities can worsen the nature of the disease and its prognosis. Adept and timely diagnosis is essential for this syndrome to prevent any complications of the renal and reproductive system.