Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature
A 21-year-old female was evaluated in our clinic because of primary amenorrhea and poor breast development. She is a child of non-consanguineous parents. Her birth event, perinatal and neonatal period were uneventful. Her growth and development were normal with normal intelligence. At the time of presentation, her height was 160 cm and weight 47 kg. On examination, there was no facial dysmorphism, no features suggestive of Turner syndrome like webbing of the neck or wide carrying angle. No skeletal deformity was found. Her blood pressure was 110/70 mmHg in both arms. Her pubic hair and breast development were in tanner 3 stage and there was scanty axillary hair. Genital examination revealed blind vaginal pouch. She had history of seizure at the age of 19 years and she is on antiepileptic medications. Her hemoglobin was 11.2 g/dl with normal differentials. Her renal function tests and liver function tests were normal. Hormonal evaluation showed elevated follicle-stimulating hormone (100 IU/L) and luteinizing hormone (32 IU/L) with undetectable estradiol (<5 pg/ml) and testosterone (<0.1 ng/ml). Her serum thyroid stimulating hormone (2.3 mIU/ml) and cortisone (10 μg/dl) levels were normal. Ultrasound of pelvis did not show uterus or ovaries. Laparoscopy revealed absent of uterus, normal fallopian tubes and streak ovaries. Her computed tomography scan of the brain revealed bilateral periventricular and corona radiata hypointensity with undulation of both lateral ventricles suggestive of ischemic insult, rest of brain parenchyma and pituitary were normal. Her karyotype, obtained from peripheral blood lymphocytes by G-staining, was 46XX (20 cell lines). We obtained ovarian samples during laparoscopy and histopathology of ovarian tissues revealed streak ovaries. We confirmed coexistence of two disorder namely, gonadal dysgenesis and MRKHS in this patient. She was put on ethinyl estradiol 10 μg/day, daily for development of secondary sexual characteristics and bone health.