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Case Report

A Case of Mixed Gonadal Dysgenesis with 46, XY Karyotype, A Rare Anomaly

Shenbagam J.M., Plot No. 117,118, P.U.Chinnapa Nagar, Pudukottai. Pincode-622001, Tamilnadu, India. , Shenbagam J.M.* , K. Rama**

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Indian Journal of Pathology: Research and Practice 6(3(part-2)):p 820-823, Jul-Sep 2017. | DOI: http://dx.doi.org/10.21088/ijprp.2278.148X.6317.55

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Abstract

Mixed gonadal dysgenesis represents a genetically, phenotypically and clinically heterogenous entity. It is defined by the presence of dysgenetic testis or streak gonads on one side and differentiated testis on the other side. The exact incidence of MGD is unknown. They can present in childhood with abnormal or ambiguous external genitalia or in an adult with history of primary amenorrhea in female and infertility in male. This discussion briefs about a case of mixed gonadal dysgenesis which is presented here for its rarity. A 22 year old female presented with history of primary amenorrhea. A complete clinical, hormonal, radiological and karyotypic analysis followed by exploratory laparatomy with histological examination of the gonadectomy specimens revealed a diagnosis of mixed gonadal dysgenesis. An important differential diagnosis for MGD includes true hermaphroditism. Histopathological examination of the gonads helps in confirming the diagnosis of MGD.

Keywords: Mixed Gonadal Dysgenesis; True Hermaphroditism; Persistent Mullerian Duct Syndrome.

 

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DOI: http://dx.doi.org/10.21088/ijprp.2278.148X.6317.55

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