#332 : A Rare Case Report of Mixed Gonadal Dysgenesis with MOS 46, XY, 47,XY+21, 45,X Karyotype

Abstract

Background and Aims: Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45, X/46, XY. We herein report an interesting case of mixed gonadal dysgenesis. Method: We present a rare patient case with mixed gonadal dysgenesis as a disorder of sex development (DSD) and a new pattern of chromosome in the karyotype, undergoing laparoscopic procedure for sex correction. Results: A 20-year-old person, 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 Mos 46, XY, 47,XY+21, 45,X karyotypeLuteinizing hormone (LH) was 18.3 mIU/ml and follicle-stimulating hormone (FSH) was 70,07 mIU/ml. Serum estradiol level was 35,9 pg/ml and prolactin was 25,8 ng/ml). Magnetic resonance imaging (MRI) pelvis with contrass (with ultrasonogrphy correlation) revealed uterus hypoplasia with right ovarian-like structures. View of corpus uteri measuring 1× 1.5× 0.8 cm with cervix building length 1 × 0.5 cm were visualized laparoscopically. The right tube and left tube (include bilateral fimbare) appear to be normal in shape and size. Right gonad with base in corpus uteri, white color, elongated ligament-like shape 0.5 × 0.3 × 0.8 cm, no follicle visible. The left gonad was seen with its base at the corpus uteri, white in color and elongated like a ligament uk 0.5 × 0.4 × 0.8cm, no follicles visible. Both gonads biopsied. Conclusion: Histopathology is still awaiting results. The patient was managed with a multidisciplinary approach and fertility issues discussed with the patient’s family.