Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser Syndrome in a girl with a 46, XX karyotype: A case report and review of literature
We report the case of a 21-year-old girl who presented primary amenorrhea and impuberism. There was no family history of consanguinity, miscarriages, neonatal deaths, or other members with primary amenorrhea. The woman was born from a normal pregnancy and eutocia. Her medical history was unremarkable. Her height was 168 cm, weight was 54 Kg, and blood pressure was 120/70 mmHg. Breast development was at Tanner stage I, and pubic and axillary hair were at Tanner stage II. The patient had no evidence of facial dysmorphism, webbing of the neck, or skeletal abnormalities.\nGynecologic examination revealed a 1-cm vaginal blind pouch. Female external genitalia were normal. No uterus was palpable on rectal examination.\nThe blood count, standard biochemical parameters, and urinalysis were within the normal range. An endocrine study including pituitary, ovarian, and thyroid evaluation was performed and revealed hypergonadotrophic hypogonadism (Luteinizing Hormone: 23 UI/l, Follicle-stimulating Hormone: 55 UI/l, Oestradiol: 10 pg/ml) with normal level of prolactin and Thyroid-stimulating Hormone. The karyotype was 46, XX, and no Y chromosome material was detected in fluorescence in situ hybridization (FISH).\nInternal genitalia could not be identified on the pelvic ultrasound on the magnetic resonance imaging [Figures and ]. Internal genitalia could not be identified on the pelvic ultrasound and pelvic magnetic resonance imaging (Q1).\nLaparoscopy was undertaken and disclosed absence of gonads, fallopian tubes, and uterus []. The diagnosis of ovarian dysgenesis associated with MRKH syndrome was made. Hormonal substitution therapy with oral conjugated estrogens was begun.\nBone study, pelvic ultrasound, and laparoscopic study were ordered to evaluate the associated genitourinary and skeletal anomalies. There were no other morphological malformations.\nHormonal substitution therapy with oral conjugated estrogens was begun. Two years afterward, the patient showed a Tanner 3 breast stage.