Rokitansky syndrome

Rokitansky Syndrome Rokitansky Syndrome, also known as Mayer-Rokitansky-K ster-Hauser (MRKH) syndrome, is a rare congenital disorder that primarily affects the female reproductive system. It is characterized by the underdevelopment or absence of the uterus and the upper part of the vagina, while external genitalia are normal. This condition is named after the physicians who first described it.

Presentation

Individuals with Rokitansky Syndrome typically present with primary amenorrhea, meaning they do not begin menstruating at the expected age. Despite the absence of menstruation, affected individuals usually have normal secondary sexual characteristics, such as breast development and pubic hair, due to normal ovarian function.

Classification

Rokitansky Syndrome is classified into two types:

• Type I (Isolated MRKH): This form involves only the reproductive system, with no other organ systems affected.
• Type II (MRKH with associated anomalies): This form includes additional malformations, which may affect the renal, skeletal, auditory, or cardiac systems.

Etiology

The exact cause of Rokitansky Syndrome is not well understood, but it is believed to result from a disruption in the development of the M llerian ducts during fetal development. Genetic factors may play a role, although no specific gene has been definitively linked to the condition.

Diagnosis

Diagnosis of Rokitansky Syndrome is typically made during adolescence when a young woman presents with primary amenorrhea. Diagnostic procedures may include:

• Pelvic examination: To assess the presence of vaginal and uterine structures.
• Ultrasound or MRI: To visualize the internal reproductive organs.
• Karyotyping: To confirm a normal 46,XX chromosomal pattern.

Management

Management of Rokitansky Syndrome focuses on addressing the anatomical and psychological aspects of the condition:

• Vaginal reconstruction: Surgical or non-surgical techniques may be used to create a functional vagina.
• Psychological support: Counseling and support groups can help individuals cope with the emotional impact of the diagnosis.
• Fertility options: While natural conception is not possible, assisted reproductive technologies such as surrogacy or adoption may be considered.

Prognosis

With appropriate management, individuals with Rokitansky Syndrome can lead normal, healthy lives. Psychological support and counseling are important to address the emotional and social challenges associated with the condition.

See Also

• Congenital disorders
• Amenorrhea
• Reproductive health

External Links

• [National Organization for Rare Disorders (NORD) - MRKH Syndrome](https://rarediseases.org/rare-diseases/mayer-rokitansky-kuster-hauser-syndrome/)
• [MRKH Organization](https://www.mrkh.org/)

NIH genetic and rare disease info

• NIH info on Rokitansky syndrome

Rokitansky syndrome is a rare disease.