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      Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report

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          Abstract

          Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies. Case Report. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. No chromosome Y was detected at the FISH analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. Laparoscopy was undertaken and revealed concomitant ovarian dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. There were no other morphological malformations. Conclusion. The pathogenesis of the association of gonadal dysgenesis and Mayer Rokitansky kuster hauser syndrome is still mysterious. The treatment is based essentially on hormone substitution therapy. The fertility prognosis is unfortunately compromised.

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          [The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: clinical description and genetics].

          J. Levêque, T Watrin, I Pellerin … (2008)
          The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (two-third) of the vagina. It may be isolated (type I) or associated with other malformations (type II or MURCS association). These latter involve the upper urinary tract, the skeleton and, to a lesser extent, the otologic sphere or the heart. The incidence of MRKH syndrome has been estimated as 1 in 4500 women. The prime feature is a primary amenorrhea in women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia. However, the vagina is reduced to a vaginal dimple with variable depth. The ovaries are normal and functional as well as the endocrine status. Karyotype is 46,XX, with no visible chromosome modification. The phenotypic manifestations of MRKH syndrome overlap with various other syndromes or malformations and thus require accurate delineation as well as differential diagnosis. For a long time, the syndrome has been considered as a sporadic anomaly, but increasing familial cases now support the hypothesis of a genetic cause currently under investigation. The syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity.
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            Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome.

            Sergio Donnay, Elena Lopez Acedo, Juan-Jose Gorgojo … (2001)
            To describe a patient with bilateral ovarian agenesis associated with the atypical form of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Case report. Unit of Endocrinology, Fundación Hospital Alcorcón. Madrid (Spain). A 17-year-old woman who presented with primary amenorrhea and lack of mammary development. An endocrine study including pituitary, ovarian, adrenal, and thyroid evaluation was performed. Genetic study was done by karyotype and fluorescence in situ hybridization (FISH) analysis to detect the presence of Y chromosome material. Bone study, intravenous urography, pelvic ultrasound, and laparoscopic study were ordered to evaluate the associated genitourinary and skeletal anomalies. Anatomic, endocrine, and genetic description of the patient. The gynecologic examination showed a normal vagina ending in a blind pouch. The endocrine evaluation disclosed gonadotropin levels in the menopausal range and nonautoimmune subclinical primary hypothyroidism. The laparoscopic study revealed a single pelvic kidney and an absence of gonads, fallopian tubes, and uterus. The karyotype was 46,XX; no Y chromosome was found in FISH analysis. To our knowledge, this is the first report of gonadal agenesis 46,XX associated with the atypical form of MRKH syndrome. The primary hypothyroidism may be coincidental.
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              Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with 46,X,del(X)(pter-->q22:).

              S Aydos, I Bökesoy, A Tükün (2002)
              The association of mullerien duct with gonadal dysgenesis is extremely rare. We report such a case in a 19 year-old white woman with a 46,X,del(X)(pter-->q22:) karyotype.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Obstet Gynecol Int
                Journal ID (publisher-id): OGI
                Title: Obstetrics and Gynecology International
                Publisher: Hindawi Publishing Corporation
                ISSN (Print): 1687-9589
                ISSN (Electronic): 1687-9597
                Publication date (Print): 2010
                Publication date (Electronic): 29 December 2010
                Volume: 2010
                Electronic Location Identifier: 847370
                Affiliations
                1Department of Gynecology Obstetric I, Teaching Hospital Hassan II, Fez 30000, Morocco
                2Department of Medical Genetic and Oncogenetic, Teaching Hospital Hassan II, Fez 30000, Morocco
                Author notes

                Academic Editor: J. L. Simpson

                Article
                DOI: 10.1155/2010/847370
                PMC ID: 3021861
                PubMed ID: 21253547
                SO-VID: d00e96af-913b-4f9d-802c-e008ee01b99c
                Copyright © Copyright © 2010 N. Bousfiha et al.
                License:

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 26 September 2010
                Date accepted : 19 December 2010
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Obstetrics & Gynecology
                Data availability:
                ScienceOpen disciplines: Obstetrics & Gynecology

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