A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation

Abstract

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

Keywords: 46XX/47XXY Klinefelter syndrome mosaicism; cyclic hematuria; ovotesticular disorder.

Figure 1

(a) Bilateral gynecomastia. (b) A penis with the normally located urethral meatus. (c) Right testes in right hemiscrotum, (d and e) Magnetic resonance imaging pelvis T1- and T2-weighted images, respectively, showing cystic swelling behind the urinary bladder. (f) Intraoperative image showing female internal genitalia

Figure 2

(a and b) Chromosomal analysis (GTG banding) revealed mosaicism 46,XX/47,XXY. (c) Gross specimen consisting of rudimentary uterus and cervix with attached Fallopian tube and ovary. (d) Endometrial glands in proliferative phase, H and E, ×100. (e) Micrograph showing the structure of the fallopian tube. Note the plica, H and E, ×100. (f) Ovarian stroma and cystic follicle, H and E, ×100. (g) Inset showing ovarian stroma and congested and dilated blood vessels, H, and E, ×100