A 16-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. She was taking
steroids after being misdiagnosed as
congenital adrenal hyperplasia (CAH). Karyotype analysis revealed 46XY karyotype. There was no evidence of hypocortisolemia (
cortisol 9.08 μg/dl,
adrenocorticotropic hormone [
ACTH] 82.5 pg/ml) or elevated level of 17-OH-progesterone (0.16 ng/ml). Pooled
luteinizing hormone (LH) was 11.79 mIU/ml and
follicle-stimulating hormone (FSH) was 66.37 mIU/ml. Serum
estradiol level was 25 pg/ml (21-251). Basal and 72 h post beta-
human chorionic gonadotropin (hCG) levels of
androstenedione and
testosterone levels were done (basal
testosterone of 652 ng/dl and basal
androstenedione of 1.17 ng/ml; 72 h post hCG
testosterone of 896 ng/dl and
androstenedione of 1.34 ng/ml). Magnetic resonance imaging (MRI) pelvis (with ultrasonogrphy [USG] correlation) revealed uterus didelphys with obstructed right moiety and bilateral ovarian-like structures. Right sided gonads and adjacent tubal structures were visualized laparoscopically and removed. Left sided gonads were not visualized and Mullerian remnants were adhered to sigmoid colon. Histopathological examination revealed presence of testicular tissue showing atrophic seminiferous tubules with
hyperplasia of Leydig cells. No ovarian tissue was seen. Based on these results a diagnosis of 46XY
mixed gonadal dysgenesis (MGD) was made, which is rare and is difficult to distinguish from 46XY ovotesticular disorder of sexual differentiation (OT-DSD). The patient was managed with a multidisciplinary approach and fertility issues discussed with the patient's caregivers.