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Case Report

Online Publishing Date:
05 / 09 / 2019

 


Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review

Arnab Nandy, Tiswampati Naskar, Debadyuti Datta, Prasanta Sardar.


Cited By:2

Abstract
Introduction: Phenotypically normal pre-pubertal girl presenting with only a little delay in onset of puberty and emotional lability is seldom thought to be suffering from a serious underlying congenital defect at the outset. Amongst different congenital causes for such presentation, Mayer-Rokitansky-Küster-Hauser syndrome is scarcely reported so far. This condition usually manifests with primary amenorrhoea and infertility in phenotypically and karyotypically normal 46, XX females. In the atypical form of this syndrome additional congenital malformations involving mostly renal and skeletal systems are noticed along with Mullerian dust dysgenesis.
Case description: A 12-year-old girl attended the adolescent clinic with complaints of generalised weakness, inadequate height gains and emotional lability. Initial clinical examination recorded genu valgus and absence of pubertal growth spurt. Subsequently, blood hormonal assay depicted hypergonadotropic hypogonadism state. Bilateral absence of gonads and Mullerian duct anomalies were detected further in an otherwise normal female karyotype (46, XX). No additional structural anomaly noticed. Developmental quotient assessment suggested intellectual disability.
Conclusions: A stepwise approach incidentally revealed a rare condition like atypical form of MRKH syndrome where bilateral gonadal agenesis and Mullerian duct dysgenesis were present but without any additional congenital malformations. Assessment of cognitive function in such cases should be sought for. Early detection of such rare case helps in building the emotional support of the family members in advance, long before the time when the patient might eventually present with primary amenorrhoea or infertility.

Key words: 46, XX karyotype, Anomalies, Congenital defect, Gonadal agenesis, Intellectual disability, Mentally retarded, Paramesonephric derivatives


 
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How to Cite this Article
Pubmed Style

Nandy A, Naskar T, Datta D, Sardar P. Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. Int J Med Rev Case Rep. 2019; 3(8): 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition

Web Style

Nandy A, Naskar T, Datta D, Sardar P. Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. https://www.mdpub.net/?mno=44315 [Access: April 04, 2024]. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition

AMA (American Medical Association) Style

Nandy A, Naskar T, Datta D, Sardar P. Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. Int J Med Rev Case Rep. 2019; 3(8): 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


Vancouver/ICMJE Style

Nandy A, Naskar T, Datta D, Sardar P. Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. Int J Med Rev Case Rep. (2019), [cited April 04, 2024]; 3(8): 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


Harvard Style

Nandy, A., Naskar, . T., Datta, . D. & Sardar, . P. (2019) Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. Int J Med Rev Case Rep, 3 (8), 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


Turabian Style

Nandy, Arnab, Tiswampati Naskar, Debadyuti Datta, and Prasanta Sardar. 2019. Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. International Journal of Medical Reviews and Case Reports, 3 (8), 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


Chicago Style

Nandy, Arnab, Tiswampati Naskar, Debadyuti Datta, and Prasanta Sardar. "Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review." International Journal of Medical Reviews and Case Reports 3 (2019), 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


MLA (The Modern Language Association) Style

Nandy, Arnab, Tiswampati Naskar, Debadyuti Datta, and Prasanta Sardar. "Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review." International Journal of Medical Reviews and Case Reports 3.8 (2019), 535-541. Print. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


APA (American Psychological Association) Style

Nandy, A., Naskar, . T., Datta, . D. & Sardar, . P. (2019) Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. International Journal of Medical Reviews and Case Reports, 3 (8), 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


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