Rokitansky syndrome
What is it?
Rokitansky syndrome is a rare congenital condition that affects 1:4000/5000 girls. It is characterized by the complete absence of the vagina and uterus (often in the presence of uterine rudiments). The diagnosis is generally made in adolescence when the lack of the appearance of the first menstruation leads girls and their families to consult numerous specialists, before reaching a diagnosis.
Which are the symptoms?
- Primary amenorrhea.
- Sometimes pelvic pain.
- Inability to penetrate vaginally.
How is it diagnosed?
The primary examination is a cognitive interview in which there is ample time to listen and answer questions posed by the family and the girls. Clarifying doubts, perplexities and fears of patients and family members allows us to establish a relationship of trust and collaboration that we believe to be fundamental both in the diagnostic and therapeutic phases. Our goal is to achieve the well-being and psychological and sexual health of our patients, so the psychological aspect is of primary importance.
At the first visit we perform an accurate anamnesis, that is, the examination and collection of the clinical documentation presented by the patient; at the end of the cognitive phase we perform an objective examination and abdominal ultrasound using state-of-the-art instrumentation and three-dimensional imaging.
At the end of the diagnostic phase we propose a personalized therapeutic path, medical or surgical, which is identified on the basis of the characteristics of the patient and the elements emerged during the diagnostic phase. The most effective therapeutic strategy is the one that best suits the patient's needs and expectations.
How is it treated?
The therapies proposed for Rokitansky Syndrome mainly involve two different paths. On the one hand the possibility of a functional medical approach (also known as Frank's functional method), on the other hand a minimally invasive surgical approach. The surgical intervention (modified Davydov's neovaginoplasty) aims at creating the vaginal canal to allow patients a normal relationship life and is performed with a minimally invasive laparoscopic and perineal procedure, lasting about 50-60 minutes.
Fertility preservation: oocyte cryopreservation
The dedicated team also includes a gynecologist who is a specialist in reproductive medicine and can provide patients with Rokitansky Syndrome with information about their future fertility options. Consultation takes place at the time of the visit and patients are offered the option of performing oocyte cryopreservation at the same time as any laparoscopy to which the patient is a candidate. In fact, oocyte retrieval in patients affected by Rokitansky Syndrome is ideally performed at the beginning of the laparoscopy to which they are candidates, so as not to have to undergo an additional anesthesiological and surgical procedure for oocyte retrieval in the future. For the purpose of cryopreservation, the patient is then shown the necessary therapies for controlled ovarian stimulation, the methods of oocyte retrieval according to the individual case and the state of the art of current and future prospects of motherhood in Rokitansky Syndrome. In this regard, the European and American literature is constantly updated regarding the surgical intervention of uterine transplantation in affected patients, still to be considered an experimental technique but in a promising way of development
Where do we treat it?
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