Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with a 46, XX karyotype: a case report

Bhandari, Bharti; Chaudhary, Bhawesh Kant

doi:10.18203/2349-3291.ijcp20150537

Cited by 2 publications

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“…[ 7 ] Bhandari and Chaudhary reported a case from Dehradun, and the clinical findings of this case were short stature, impuberism, rudimentary vagina, and absent uterus and ovaries. [ 8 ] Kebaili et al . and Shah et al .…”

Section: Discussionmentioning

confidence: 99%

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome

et al. 2016

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46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. The coexistence of both these disorders is extremely rare. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome with anatomically dispersed congenital anomalies unique among reported cases.

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Section: Discussionmentioning

confidence: 99%

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome

et al. 2016

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Unusual association of Turner syndrome and Mayer-Rokitansky-Küster-Hauser syndrome

2016

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Gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) are the most common causes of primary amenorrhoea. Patients with gonadal dysgenesis present with primary amenorrhoea and lack of secondary sexual characteristics, which, in contrast, are present in patients with MRKHS. The coexistence of the 2 syndromes has been reported in only a few studies so far. We describe a case of a 15-year-old girl who presented with short stature and primary amenorrhoea. Investigations revealed hypergonadotropic hypogonadism, and absence of the uterus, and upper two-thirds of the vagina, with presence of the rudimentary lower third of the vagina and non-visualised bilateral ovaries on imaging. Karyotyping obtained by lymphocyte culture GTG banding revealed 45X/46XX. The patient was diagnosed as having a rare case of gonadal dysgenesis with MRKH. She was started on growth hormone therapy. The association of these syndromes is uncommon, and has further implications on fertility and pregnancy, affecting the quality of life.

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Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with a 46, XX karyotype: a case report

Cited by 2 publications

References 5 publications

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome

Unusual association of Turner syndrome and Mayer-Rokitansky-Küster-Hauser syndrome

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