[Mayer-Rokitansky-Küster-Hauser syndrome: A case report].
نویسندگان
چکیده
disorder. At clinical examination, the patient demonstrated a development of secondary sexual characteristics compatible with her chronological age. At gynecological examination a grooved urethra with elevated edges was observed. Speculum examination was not performed. Transabdominal ultrasonography did not demonstrate the presence of uterus and ovaries in their habitual site, but the study was inconclusive because of technical difficulties. At magnetic resonance imaging, the uterus could not be visualized and the ovaries presented volume, signal and location with no abnormality. Also, the vaginal canal could not be visualized by such imaging method (Figure 1). Genetic evaluation revealed karyotype 46,XX, thus determining the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. The patient was submitted to surgical correction of the vagina (neovaginoplasty).
منابع مشابه
Successful Surgical Treatment for Vaginal Agenesis: Report of Two Cases of Mayer–Rokitansky–Küster–Hauser (MRKH) Syndrome
Introduction: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare disorder in women which identified as agenesis of vagina and hypoplasia or agenesis of uterine. Case presentation: in this study, two female cases (17, and 19 years old) diagnosed with MRKH (first one type 2, and second one type 1) are described. Both patients were presented with amenorrhea, and absence of vagina orifice. On...
متن کاملThe Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant
Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still quite infrequent. To the extent that authors searched, just one study reported the association between Rokitansky sequence and Dandy-Walker malfor...
متن کاملCoffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report
INTRODUCTION We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. CASE PRESENTATION A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth finger...
متن کاملThyroid carcinoma and primary amenorrhea due to Mayer-Rokitansky-Küster-Hauser syndrome: a case report
UNLABELLED INTRODUCTION This case report describes an association between an exceptionally rare congenital anomaly and differentiated thyroid carcinoma. Mayer-Rokitansky-Küster-Hauser syndrome is characterized by vaginal aplasia associated with other Müllerian duct abnormalities. Its penetrance varies, as does the involvement of other organs. The association with thyroid carcinoma appears to...
متن کاملDiffuse pulmonary lymphangiomatosis with mediastinal affectation.
1. Morcel K, Camborieux L. Programmede recherches sur les aplasiesmüllériennes (PRAM)andGuerrierD.Mayer–Rokitansky–Küster–Hauser syndrome.Orphanet J Rare Dis. 2007;2:13. 2. Strübbe EH, Cremers CW, Wilemsen WN, Rolland R, Thijn CJ. The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphol. 1994;3:192–9. 3. Vasquez JC, De la Ro...
متن کاملPregnancy in a case of Mayer-Rokitansky-Küster-Hauser Syndrome Gravidez num caso de Síndrome Mayer-Rokitansky-Küster-Hauser
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome refers to the congenital absence of the upper part (2/3) of the vagina with variable uterine development. In this disorder, infertility may be the most difficult aspect for the patient to accept. This review will describe a rare case of pregnancy in a woman with MRKH syndrome through assisted reproductive
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Semergen
دوره 42 5 شماره
صفحات -
تاریخ انتشار 2016