Résumé
@#The psychological impact of the diagnosis of congenital anomalies is an area with limited research; and more limited still when such congenital anomalies are not very obvious. MayerRokitansky-Kuster-Hauser (MRKH) syndrome can be one of those less apparent congenital anomalies. Owing to their inability to bear children, women confronted with the diagnosis of MRKH can be left stressed, or worse, traumatized by the fact that they can no longer function in their traditional gender roles. This may leave any individual wanting to deny the diagnosis or even withhold such information. And the experience is a fertile ground for the development of any mental illness. MRKH occurs in every 1 out of 4000-5000 females. Although the psychological impact of stress is a well –established fact, there are fewer literature on the possible genetic link of MRKH and mental illness, the psychodynamic underpinnings and the similarities to trauma of the diagnosis of MRKH, in particular. We present here a case of MRKH syndrome with an initial presentation of major depression and psychosis; with the diagnosis of MRKH initially withheld from the resident psychiatrist. We would also want to highlight a trauma perspective of the case presented as well as to emphasize the need for more research congenital anomalies are accompanied by co-morbid psychiatric illnesses.
Sujets)
Dépression , Troubles psychotiques , Détresse psychologiqueRésumé
@#Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome is a rare disease found in 1 :4,000-5,000 live female births. It presents with vaginal and uterine agenesis in females. Ultrasound of the pelvis is the initial imaging of choice. Pelvic Magnetic Resonance Imaging (MRI) is the gold standard to confirm the presence of a rudimentary uterus. Surgical and nonsurgical options to create a neovagina may be offered to the patient. Counselling of patients is necessary. This report presents a case of a 1 5-year old phenotypic female with cyclic abdominal pain subsequently noted with absent vaginal canal. Ultrasound and MRI of the pelvis showed the absence of a uterus and upper vagina with intact ovaries. Karyotyping showed 46, XX, confirming that the patient is a female. Analgesics were prescribed for the abdominal pain. Regular counselling was provided by Adolescent Medicine.
Résumé
Este trabalho de revisão foi idealizado para analisar as malformações dos ductos de Müller, que, devido à sua frequência de 3 a 7,3% na população em geral, justificam uma análise mais profunda do tema. O objetivo foi avaliar, de acordo com a literatura por meio de metodologia adequada? Os aspectos mais relevantes dessas anomalias, com destaque para a etiopatogenia, classificação, diagnóstico e tratamento. Os resultados obtidos nesta revisão apontaram as melhores evidências, até o momento, de como conduzir as mulheres portadoras dessas malformações.
This review paper was organized in order to analyse Müllerian anomalies, because their frequency from 3 to 7,3% in people in general justify a better evaluation about these malformations. The objective of the study was to evaluate, according to literature - by a proper methodology - the main aspects of these malformations, with special attention to etiology, classification, diagnostic and treatment. The results of this review showed the best evidences up till now of how to manage women with these genital malformations.