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

Bousfiha, Najoua; Errarhay, Sanaa; Saadi, Hanane; Ouldim, Karim; Bouchikhi, C.; Banani, Abdelaziz

doi:10.1155/2010/847370

Cited by 18 publications

(23 citation statements)

References 7 publications

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“…The issue of uterine hypoplasia in patients with severe estrogen deficiency was reported in 2010 (5), but this potential pitfall in diagnosis has only recently been highlighted in the recent article (6). The dual diagnosis of MRKH syndrome and 46, XX gonadal dysgenesis (absence of uterus and both ovaries) in previous case reports were questioned because most reports did not have follow-up imaging of uterus again after adequate estrogen replacement (7,8,9). Subsequent identification of the uterus needs to be re-evaluated after at least 6-12 months of estrogen replacement.…”

Section: Discussionmentioning

confidence: 99%

Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis

Thewjitcharoen

Veerasomboonsin

Nakasatien

et al. 2019

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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Primary amenorrhea could be caused by disorders of four parts: disorders of the outflow tract, disorders of the ovary, disorders of the anterior pituitary, and disorders of hypothalamus. Delay in diagnosis and hormone substitution therapy causes secondary osteoporosis. Herein, we report a case of a 23-year-old phenotypical female who presented with primary amenorrhea from 46, XX gonadal dysgenesis but had been misdiagnosed as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome or Mullerian agenesis. The coexistence of gonadal dysgenesis and MRKH was suspected after laboratory and imaging investigations. However, the vanishing uterus reappeared after 18 months of hormone replacement therapy. Therefore, hormone profiles and karyotype should be thoroughly investigated to distinguish MRKH syndrome from other disorders of sex development (DSD). Double diagnosis of DSD is extremely rare and periodic evaluation should be reassessed. This case highlights the presence of estrogen deficiency state, the uterus may remain invisible until adequate exposure to exogenous estrogen.Correspondence should be addressed to Y Thewjitcharoen

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Section: Discussionmentioning

confidence: 99%

Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis

Thewjitcharoen

Veerasomboonsin

Nakasatien

et al. 2019

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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“…Gonadal dysgenesis in female is defined as absent or insufficient development of ovaries. [ 1 ] The patient with gonadal dysgenesis presents with primary amenorrhea and lack of development of secondary sexual characteristics due to inability of ovaries to produce sex steroids. The karyotype in patients with gonadal dysgenesis can be 46XX, 45XO, mosaicism or deletion of a certain part of X chromosome.…”

Section: Introductionmentioning

confidence: 99%

“…The karyotype in patients with gonadal dysgenesis can be 46XX, 45XO, mosaicism or deletion of a certain part of X chromosome. [ 1 ]…”

Section: Introductionmentioning

confidence: 99%

Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature

Shah

Ganatra

Parikh

et al. 2013

Indian J Endocr Metab

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The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare. We report a 21-year-old phenotypical female who presented with primary amenorrhea and underdeveloped secondary sexual characteristics. Hormonal evaluation revealed hypergonadotropic hypogonadism. Her karyotype was 46XX. Laparoscopy of pelvis revealed absent uterus, normal fallopian tubes and bilateral streak ovaries, which were biopsied and histopathology was consistent with the findings of gonadal dysgenesis. We searched PubMed for similar reports in the literature and details of all the cases were analyzed and reported here.

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“…Gonadal dysgenesis is the most common cause of primary amenorrhoea and absent secondary sexual characteristics 3. This may arise from an early defect in primordial follicle formation or a defect in differentiation of the ovaries.…”

Section: Discussionmentioning

confidence: 99%

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

Cited by 18 publications

References 7 publications

Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis

Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis

Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature

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

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