Mayer-Rokitansky-Küster-Hauser syndrome presenting with primary amenorrhea and chronic kidney disease: a case report

¹Department of Internal Medicine, Walter Sisulu University, Mthatha, South Africa

^&Corresponding author
Khaled Elmezughi, Department of Internal Medicine, Walter Sisulu University, Mthatha, South Africa

Introduction    

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as müllerian agenesis or aplasia is caused by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. It is characterized by congenital aplasia of the uterus and the upper two thirds of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype [1,2]. The normal development of the female reproductive tract depends on the interaction between genetic, hormonal, and environmental factors. The incidence of MRKH syndrome, on the other hand, is not clearly established, but studies indicate an incidence of 1:4,000 to 1:5,000 live births of the female sex. It is one of the most common causes of primary amenorrhea in patients with typical thelarche and adrenarche [1,2].

Patient and observation     

A 20-year-old female patient was referred to Nelson Mandela Academic Hospital (NMAH) with a history of severe fatigue and myalgia of a month duration. She was previously well with unremarkable past medical, surgical, and social history. There was no family history of congenital anomalies or similar problems. Her mother's obstetrics history was also unremarkable. She was noted to have primary amenorrhea that was not previously investigated. She was pale, afebrile with mild peripheral oedema. There was a regular tachycardia of 110 beats per minute with an ejection systolic murmur over the left sternal border. Her breasts were well developed at Tanner Stage V. Gynecological examination revealed normal external genitalia, but a blind-ending vagina. Her hormonal profile (FSH, LH, oestradiol, progesterone, and testosterone) was within normal limits. Serum prolactin was elevated to 57.6 ug/L (normal is 4.8-23.3 ug/L). The serum urea and creatinine were elevated and in keeping with a chronic kidney disease. Abdominal ultrasound examination showed echogenic right pelvic kidney with poor corticomedullary differentiation, absent left kidney, and absent uterus. Subsequently, she underwent abdominal and pelvic magnetic resonance imaging (MRI), which showed a normally visualized ovaries centered in the iliac fossa bilaterally and also confirmed a solitary right kidney measuring 60 mm ectopically positioned in the right iliac fossa, left renal agenesis, blind-ending vagina with absent proximal vagina and uterus. These findings are in keeping with MRKH syndrome. Echocardiography was normal. She had a trephine biopsy of the bone marrow for thrombocytopenia and anemia, twice weekly hemodialysis was also started, and two units of red blood cells were transfused. Her platelet count returned to normal on haemodialysis with no other intervention. She was seen by a social worker and a psychologist and counselled on MRKH syndrome and its implications on fertility and was advised to follow up with our haemodialysis and outpatient clinics.

Discussion     

Our patient presented with clinical features of renal failure and the radiologic features of MRKH syndrome. The diagnosis of MRKH syndrome was further buttressed by the finding of primary amenorrhea. The occurrence of renal failure in our patient may be related to morphologically abnormal kidneys. Potential mechanisms for renal failure in our patient include abnormal kidneys, possible chronic pyelonephritis induced by recurrent renal infections and scarring of the kidneys resulting in progression to chronic kidney disease as patients with major anatomic abnormalities are at risk of pyelonephritis and chronic kidney disease [3]. Elevated serum prolactin levels are likely related to reduced elimination because of renal failure. MRKH syndrome is characterized by aplasia of the Müllerian duct (uterus and upper two-thirds of the vagina) in a phenotypic female with 46XX Karyotype. Approximately 40-60% of patients have renal disorders such as unilateral agenesis, horseshoe kidney, ectopic or bilateral uteropelvic obstruction while 20% have skeletal abnormalities such as thoraco-cervical asymmetry, spinal fusion, scoliosis and Klippel-Feil syndrome [1,4]. Cardiac abnormalities and hearing defects may also be encountered, occurring less frequently, but also reported in the literature is bilateral femoral hypoplasia [1,4].

Rudimentary müllerian structures are found in 90% of patients with müllerian agenesis by magnetic resonance imaging (MRI) [1]. Multiple studies have confirmed the prevalence of renal anomalies in patients with müllerian agenesis to be 27-29%; therefore, ultrasound evaluation of the kidneys is warranted for all patients [1]. Skeletal anomalies (eg, scoliosis, vertebral arch disturbances, hypoplasia of the wrist) have been reported in approximately 8-32% of patients; therefore, spine radiography (X-ray) may reveal a skeletal anomaly even in asymptomatic patients, however this was not found in our patient on x-ray. For a long time, the syndrome has been considered as a sporadic anomaly, but increasing number of familial cases now support the hypothesis of a genetic cause, the mode of inheritance seems to be autosomal dominant with an incomplete degree of penetrance [5]. Treatment is usually delayed until the patient is ready to begin sexual activity. This is a serious physiological problem, in fact, they are often associated with somatic and psychosocial disorders such as depression. Restorative treatment, whether surgical or nonsurgical (vaginal dilators) can allow the patient to have normal sexual function. Although most MRKH patients have a rudimentary nonfunctioning uterus, a small percentage (2-7%) do have a uterus with a functioning endometrium. A case has been reported of a woman with MRKH syndrome and a functioning uterus in whom pregnancy was achieved with In Vitro Fertilization (IVF) and subsequent delivery of a healthy baby by cesarean section [6]. Live birth following uterus transplantation has been reported and this may be an option for patients with MRKH syndrome who intend to be pregnant [5].

Treatment of vaginal aplasia, which consists in creation of a neovagina, can be offered to allow sexual intercourse. As psychological distress is particularly important in young women with MRKH, it is essential for the patients and their families to attend counselling before and throughout treatment [2], psychological adjustment as well as medical attitude will be of great consequence for future decisions of creation of a neovagina and management of sterility [2]. Treatment consisting of creating a neovagina must be offered to patients only when they are ready to start sexual activity and when they are emotionally mature.

Conclusion     

This case extends the reports of MRKH to the available literature. All women with primary amenorrhea should undergo a complete investigation of both the genital and endocrine systems with treatment requiring a multidisciplinary team. All women with müllerian agenesis should be counselled and advised to connect with peer support groups of young women with the same diagnosis and referred to special centres with expertise in this area whenever is possible. Assisted reproduction with surrogate mothers can also be attempted.

Competing interests     

The authors declare no competing interests.

Authors' contributions     

All the authors contributed to conception, design, drafting and revising of the manuscript. All authors read and approved the final manuscript.

Acknowledgment     

The authors are grateful to the staff of the Department of Internal Medicine at Nelson Mandela Academic Hospital for their kind assistance and collaboration.

References