A rare case report of 46XY mixed gonadal dysgenesis
A 16-year-old person, reared as female, born out of nonconsanguineous marriage, presented to our clinic with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters. She underwent reduction clitoroplasty and vaginoplasty on 22/03/2000. There was no h/s/o crisis or cyclical abdominal pain in the past. However, the patient was taking 5 mg of prednisolone after being labeled as a case of congenital adrenal hyperplasia (CAH). No history of recent onset change in sexual identity. Other past history, family history, antenatal history, perinatal history, and developmental history were noncontributory. On earlier evaluations, a small uterus was found on ultrasonogrphy (USG) studies but no gonads were visualized.\nOn examination, anthropometric measurements were appropriate for her age. She was normotensive for her age group. General and systemic examinations were unremarkable. No Turner's stigmata were visualized. Genital examination revealed a single perineal opening, phallic length of 5 cm, with a well-formed glans and a well-formed scrotal sac. Prader staging was 3/5. Sexual maturity rating was A0P1B2. The mucosa above the perineal opening was pink in color.\nRoutine biochemical and hematological investigations were normal. A 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). Basal testosterone level was 588 ng/dl with basal androstenedione level of 1.83 ng/ml (male: 0.7-3.6, female: 0.3-3.5). 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).\nMRI pelvis [] revealed uterus didelphys with obstructed right moiety and bilateral ovarian-like structures.\nThe patient was managed in collaboration with Department of Gynecology and Obstetrics and discussions with patient party and a decision was taken to remove the gonads and Mullerian structures laparoscopically. However at the time of surgery, only right sided gonads and adjacent tubal structures were visualized and removed. However, left sided Mullerian remnants could not be removed due to adhesion to sigmoid colon.\nHistopathological examination [] revealed presence of testicular tissue showing atrophic seminiferous tubules with hyperplasia of Leydig cells. Epididymal tissue and an epididymal cyst are also present. However, no ovarian tissue was seen.\nThe patient is still admitted with us as on the day of writing this manuscript and is being managed with oral estrogens.