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.

Ovotestis in Adolescence: 2 Case Reports

“…1, 6–9 Clinical features often depend on the underlying karyotype. The most common karyotype in otDSD is 46,XX, 1, 2, 4, 5 as in our first patient.…”

“…In a case report from India, a 16-year-old phenotypic male presented with cyclic hematuria. 6 He had bilateral gynecomastia, which is common in patients with KS and other DSDs. Karyotype was 46,XX/47,XXY.…”

Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

“…Unilateral and bilateral cryptorchidism were common at 65%. [5][6][7][8][9][10][11]14,15,18 Uterus was found in 79% (11/14) of the cases with male or ambiguous external genitalia (5 and 4). These uteri were bi or unicornuated and always possessed a fallopian tube on at least one side.…”

“…On day 2 of life, serum levels of total testosterone were measured at 257 ng/dL (normal range for male newborns 75-400), follicle stimulating hormone (FSH) at 0.09 mIU/mL (normal range 0.16-4.1 at 4 weeks-11 months), and luteinizing hormone (LH) at < 0.09 mIU/mL (normal range 0.02-7.0). Peripheral blood karyotype showed mosaicism 46,XX [36]/47, XXY [15]. Cystoscope and cystogram performed at 1 year showed a normal bladder, complete separation of the vaginal and urethral openings, and no vesicoureteral reflux.…”

“…Clinical phenotypes and related findings of the present case and 18 additional patients identified from the literature during 1969 to 2019 were analyzed, as shown in ►Table 1. [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] The age of presentation ranged from prenatal stage to 62 years. All but two patients were raised as male.…”