Multiorgan system structural malformations associated with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) type 2: avoiding pitfalls in diagnosis, counseling and treatment

Abstract

An 18-year-old virginal woman was referred to the reproductive endocrinology clinic with primary amenorrhoea and secondary sexual development in the absence of pelvic pain. Additionally, she had significant congenital sensorineural hearing loss, autism, bipolar disorder and class III obesity. On physical examination, secondary sexual development was confirmed (Tanner 5 breasts and Tanner 4 pubic hair). She refused further pelvic examination following prior attempts by the referring physicians. Serum leutinizing hormone (LH), follicle sitmulating hormone (FSH). prolactin, estradiol and total testosterone values were within normal limits. Karyotype was 46,XX. MRI demonstrated complete uterine agenesis, short vagina, sacral dysgenesis with complete absence of the coccyx and a horseshoe kidney. Diagnosis of Mayer-Rokitansky-Küster-Hauser Syndrome type 2 was established based on clinical, laboratory and MRI findings. The patient and family were counselled regarding the disease process, techniques for vaginal elongation, sexual activity and future reproductive options.

Chronic kidney disease in a child—an unusual crossroad: Answers

“…Kidney anomalies are most common, present in 40% of the patients, with URA being most frequent. Skeletal abnormalities include scoliosis, kyphosis, and isolated vertebral anomalies like spina bifida and Klippel-Feil association [10,11]. There have been case reports on thumb abnormalities and loss of thenar eminence which were also seen in our patient [12,13].…”

“…The common vertebral anomalies in MRKH involve the cervical and lumbar vertebrae, but we found sacral dysgenesis resembling a caudal regression syndrome, in our patient. This association has been reported in few cases of MRKH [11,13]. On thorough literature search, we could find very few case reports on CKD and bladder dysfunction being the mode of presentation in MRKH, as seen in this girl [13].…”

Reporte de serie de casos: neovagina en pacientes con Síndrome Mayer-Rokitansky-Kuster-Hauser

“…En nuestras pacientes, se presenciaron anormalidades renales como ectasia pielocalicial, hidronefrosis, riñón único pélvico, anormalidades óseas como escoliosis congénita, síndrome de Klippel Feil y cardiacas como insuficiencia leve de válvula mitral. Otros estudios reportan válvula aórtica bicúspide, displasia radial, disgenesia sacra con ausencia total de cóccix y riñón en herradura [16][17][18] . Durante el periodo de tiempo, consultó a la institución otra paciente con el diagnóstico de síndrome de Mayer-Rokitansky-Kuster-Hauser, a quien se le ofrecieron las diferentes opciones de manejo, entre estas el manejo conservador con dilatadores y las técnicas quirúrgicas; la paciente no deseaba el manejo quirúrgico, por lo que se inició tratamiento con dilatadores y se tiene actualmente en seguimiento.…”