Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with 46,X,del(X)(pter→q22:)

Aydos, Sena; Tükün, Ajlan; Bökesoy, Işık

doi:10.1007/s00404-001-0274-3

Cited by 29 publications

(18 citation statements)

References 7 publications

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“…In this case, patients showed abnormal karyotypes, always involving the X chromosome, such as mosaicisms 45, X/46, X, dic(X) [27], 46, XX/45, X0 [102], 46, XX/47, XXX [103] or rearrangements/deletions such as 46, X, del(X)(pter-q22) [104], 46, X, i(Xq) [105] or more complex karyotypes [12]. However, MRKH syndrome does not seem to be an X-linked trait and it therefore appears that the X chromosome carries one or several genes involved in very early differentiation of at least both gonads and Müllerian ducts.…”

Section: Differential Diagnosismentioning

confidence: 99%

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Morcel

Camborieux

Müllériennes

et al. 2007

Orphanet J Rare Dis

335

192

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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 extent, auditory and cardiac defects (MRKH type II or MURCS association). The first sign of MRKH syndrome is a primary amenorrhea in young women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia, with normal and functional ovaries, and karyotype 46, XX without visible chromosomal anomaly. The phenotypic manifestations of MRKH syndrome overlap with various other syndromes or associations and thus require accurate delineation. For a long time the syndrome has been considered as a sporadic anomaly, but increasing number of familial cases now support the hypothesis of a genetic cause. In familial cases, the syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. This suggests the involvement of either mutations in a major developmental gene or a limited chromosomal imbalance. However, the etiology of MRKH syndrome still remains unclear. Treatment of vaginal aplasia, which consists in creation of a neovagina, can be offered to allow sexual intercourse. As psychological distress is very important in young women with MRKH, it is essential for the patients and their families to attend counseling before and throughout treatment.

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Section: Differential Diagnosismentioning

confidence: 99%

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Morcel

Camborieux

Müllériennes

et al. 2007

Orphanet J Rare Dis

335

192

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“…[111121314151617] This finding suggests that the occurrence of neither this association nor Mullerian tract anomalies alone is not related with a specific chromosomal abnormality. [17]…”

Section: Discussionmentioning

confidence: 99%

Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature

Kebaïli

Chaabane

Mnif

et al. 2013

Indian J Endocr Metab

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Mayer-Rokitansky-Kuster-Hauser (MRKH) is a characteristic syndrome in which the Mullerian structures are absent or rudimentary. It is also associated with anomalies of the genitourinary and skeletal systems. Its association with gonadal dysgenesis is extremely rare and appears to be fortuitous, independent of chromosomal anomalies. We report such a case in a 21-year-old girl who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46, XX. No chromosome Y was detected at the fluorescence in situ hybridization (FISH) analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic magnetic resonance imaging. Laparoscopy disclosed concomitant ovarian dysgenesis and MRKH syndrome. There were no other associated malformations. Hormonal substitution therapy with oral conjugated estrogens was begun. The patient has been under regular follow-up for the last two years and is doing well.

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“…Few cases of association of ovarian dysgenesis and MRKH syndrome are reported in the literature indeed [1, 2, 6–10]. …”

Section: Discussionmentioning

confidence: 99%

“…It causes primary amenorrhea with variable hypogonadism or impuberism, depending on the degree of gonadal development. The karyotype can be 46,XX; 45,X0; 46,XY or mosaïcism 45,X/46,XX; 45,X/46,X,del(X)(p22.2); 46,X,i(Xq) [1–3]. The Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) is a specific type of mullerian duct malformation characterized by congenital absence or hypoplasia of uterus and upper two thirds of the vagina in both phenotypically and karyotypically normal females with functional ovaries [4].…”

Section: Introductionmentioning

confidence: 99%

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

Bousfiha

Errarhay

Saadi

et al. 2010

Obstetrics and Gynecology International

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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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Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with 46,X,del(X)(pter→q22:)

Abstract: 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.

Cited by 29 publications

References 7 publications

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature

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

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