Volume : IV, Issue : I, January - 2015

Disorder of Sexual Development with 46XY Karyotype

Dr. Rima Rakeshkumar Sahay, Dr. Seema S Bansode Ndash Gokhe, Dr. R. R Shinde

Abstract :

A 16-year-old, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner\\\'s stigmata. Karyotype analysis revealed 46XY karyotype.Basal cortisol 15.64μg/dl, Luteinizing Hormone was 4.81mIU/ml and Follicle Stimulating Hormone was 11.23mIU/ ml. BasalDi-hydroxy testosterone- 1032 ng/dl ,testosterone of 5.73 ng/dl and Androstenedione of 2.13 ng/ml. Ultrasonography revealed Bilateral testis which appear normal in size, echo texture and vascularity. Epididymis poorly formed. No Mullerian structures seen. No uterus found. Cystogenitoscopy revealed short urethra with normal bilateral ureteric orifices and normal bladder size and echo-texture. Pseudo vagina with separate opening for urethra was seen. Based on these results a diagnosis of 46XY Disorder of Sexual Development (DSD) with partial androgen insensitivity syndrome was made. The patient was managed with a multidisciplinary approach and fertility issues discussed with theparents.

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Article: Download PDF   DOI : 10.36106/ijsr  

Cite This Article:

Dr. Rima Rakeshkumar Sahay,Dr. Seema S Bansode–Gokhe,Dr. R.R Shinde Disorder of Sexual Development with 46XY Karyotype International Journal of Scientific Research, Vol : 4, Issue : 1 January 2015

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