Síndrome de Mayer-Rokitansky-Kuster-Hauser: relato de caso e revisão da literatura

Abstract

The authors describe the case of a young female patient with primary amenorrhea and normal secondary sexual characteristics. The diagnostic investigation demonstrated the occurrence of Mayer-Rokitansky-Kuster-Hauser's syndrome. Keywords: Paramesonephric (Müllerian) ducts; Abnormalities.Os autores descrevem o caso de uma paciente jovem com amenorreia primária e caracteres sexuais secundários normais. A investigação diagnóstica constatou a ocorrência da síndrome de Mayer-Rokitansky-Kuster-Hauser. Unitermos: Ductos paramesonéfricos; Anormalidades. AbstractResumo

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

“…MRKH syndrome has numerous variables regarding the presence of certain abnormalities such as: 1) renal-agenesis or hypoplasia, hydronephrosis, and ectopic kidney; 2) bone-fusion of cervical vertebrae and scoliosis; 3) cardiac; and 4) digitalis-polydactyly and syndactyly [2] [4] [13]. When present, renal and bone changes are the most frequent, with 30% -40% and 10%, respectively, and should always be investigated at diagnosis [4].…”

“…Physical examination is the first solid evidence of alterations in the Mullerian duct, since gynecological evaluation can detect absence or shortening of the vagina canal [2] [13] [14]. In the investigative sequence, abdominal and pelvic ultrasounds are requested, which confirms the absence of uterus between the bladder and rectum [2] [14].…”

“…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]. A rare disease, considered the second most frequent cause of primary amenorrhea, affects 1:5,000 live-born girls [1] [2] [3].…”

“…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].…”

Development of personalized molds for neovagina creation by 3D printer

“…Thyeres Teixeira Bueno Chrispin 1 Marina Silva Fernandez 2 Claudia Cristina Takano Novoa 3 Marair Gracio Ferreira Sartori 4…”