Mayer-Rokitansky-Küster-Hauser syndrome presenting with short stature and gonadal Dysgenesis
نویسندگان
چکیده
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly of female genital tract where there hypoplasia uterus and upper two- thirds vagina. Patients with MRHK present normal development secondary sexual characteristics due to ovarian function. We report 2 cases who presented absent ovaries confirmed on imaging. Both our MRKH had short stature underdeveloped characteristics. It extremely rare for gonadal dysgenesis Mullerian abnormalities coexist.
منابع مشابه
The 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 کاملMayer-Rokitansky-Küster-Hauser (MRKH) syndrome
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. It affects at least 1 out of 4500 women. MRKH may be isolated (type I) but it is more frequently associated with renal, vertebral, and, to a lesser ext...
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Objective. To report a case of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) in which there were two nonfunctional rudimentary uteruses with the presence of ovarian endometrioma, corroborating that there are valid alternative theories to the existence of endometriosis, rather than Sampson's theory alone, such as the coelomic metaplasia theory. Design. A case report. Setting. A tertiary referra...
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The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [MIM 277000] is characterised by the absence of a uterus and vagina in otherwise phenotypically normal women with karyotype 46,XX. Clinically, the MRKH can be subdivided into two subtypes: an isolated or type I form can be delineated from a type II form, which is characterised by extragenital malformations. The so-called Müllerian hypoplasia, r...
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To date, no literature has focused on the counseling of patients with Mayer-Rokitansky-Küster-Hauser syndrome as relates to their unique fertility challenges. This article is presented as a guide to practitioners in the counseling of patients with varying Mayer-Rokitansky-Küster-Hauser phenotypes regarding individual reproductive potential.
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ژورنال
عنوان ژورنال: International journal of radiology and diagnostic imaging
سال: 2023
ISSN: ['2664-4436', '2664-4444']
DOI: https://doi.org/10.33545/26644436.2023.v6.i3a.341