Forma atípica da síndrome de Mayer-Rokitansky-Kuster-Hauser com malformação renal e displasia cervicotorácica (associação de MURCS)

Abstract

ResumoA forma atípica e mais severa da síndrome Mayer-Rokitansky-Kuster-Hauser (MRKH) ou MRKH tipo II é também conhecida como associação de MURCS, cujo mnemônico significa aplasia/hipoplasia mülleriana (MU), malformação renal (R) e displasia cervicotorácica (CS). Acomete pacientes do sexo feminino com cariótipo e função ovariana normais, acarretando amenorreia primária. Apresenta incidência de 1:50.000, subestimada pelo diagnóstico tardio e etiologia mal definida. Descrevemos um caso em criança e outro em adolescente, com o objetivo de predizer o diagnóstico ainda na infância, antes da instalação do quadro de amenorreia; as pacientes apresentavam em comum malformação renal, agenesia ou hipoplasia de derivados müllerianos e anomalias vertebrais, configurando o diagnóstico de MURCS. A relevância do estudo é mostrar a necessidade de prosseguir a investigação na presença de algum dos sinais da doença, pesquisando anormalidades correlatas, a fim de se estabelecer o diagnóstico precocemente e, consequentemente, orientar pacientes e seus familiares quanto à melhor forma de condução do caso, incluindo aconselhamento genético. AbstractThe atypical and more severe form of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or MRKH type II is also known as MURCS association, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal dysplasia (R) and cervico-thoracic dysplasia (CS). It affects female patients with normal karyotype and ovarian function, evolving to primary amenorrhea. It has an incidence of 1:50,000, but it is underestimated due to late diagnosis and undefined etiology. We describe the cases of a child and an adolescent in order to predict the diagnosis even in childhood, before the onset of amenorrhea. Patients had in common renal malformation, agenesis or hypoplasia of Müllerian derivatives and vertebral anomalies, establishing the diagnosis of MURCS. The relevance of this paper is to show the importance of further investigation when some of pathologic signs are present, researching correlated abnormalities in order to establish an early diagnosis and consequently to provide guidance to the patients and their families about the best way to conduct the case, including genetic counseling.

Case Report: Clinical and Diagnostic Aspects of Mayer-Rokitansky-Kuster-Hauser Syndrome

“…MRKH syndrome occurs due to the embryological alteration of the Mullerian ducts-formed between the eighth and twelfth weeks of gestation-which will lead to agenesis or hypoplasia of the uterus and upper third of the vaginal canal [4]. An association between Mullerian duct malformation with gestational diabetes and thalidomide use during pregnancy has been reported [1].…”

“…Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital Mullerian dysgenesis that develops with vagina atresia and uterine and tubal anomalies and may present with absence or hypoplasia of these structures [1] [2] [3] [4]. In these cases, the patients present 46, XX karyotype with preserved secondary sexual characters, as the ovaries are normally functioning [2].…”

“…In these cases, the patients present 46, XX karyotype with preserved secondary sexual characters, as the ovaries are normally functioning [2]. A rare disease, considered the second most frequent cause of primary amenorrhea, affects 1:5,000 live-born girls [1] [2] [3]. The etiology has not yet been fully clarified; however, it is believed to be related to a genetic cause due to the increase in the number of cases in family groups [2] [3]; thus, the existence of an autosomal dominant inheritance has been suggested [1] [5].…”

“…A rare disease, considered the second most frequent cause of primary amenorrhea, affects 1:5,000 live-born girls [1] [2] [3]. The etiology has not yet been fully clarified; however, it is believed to be related to a genetic cause due to the increase in the number of cases in family groups [2] [3]; thus, the existence of an autosomal dominant inheritance has been suggested [1] [5]. Although the exact genetic cause has not been discovered, genes such as HOXA7, HOXA 9-13, HOXD 9-13, and WNT4 are considered as possible causes of the syndrome [3] [4].…”

“…Although the exact genetic cause has not been discovered, genes such as HOXA7, HOXA 9-13, HOXD 9-13, and WNT4 are considered as possible causes of the syndrome [3] [4]. Errors in embryological development are likely to occur from the fourth week of gestation, which would culminate in the regression of the Muller ducts [1]. Additionally, although there are also suspicions of non-genetic causes, there is no relationship with the use of illicit drugs during pregnancy [3].…”