Endocrine Abstracts

Objective: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a very rare congenital anomaly characterised by vaginal agenesis and a spectrum of different genitourinary tract anomalies. Typical form of this syndrome is characterised by congenital absence of the uterus and upper 2/3 vagina with normal ovaries and fallopian tubes and atypical form of the syndrome is associated with anomalies of the ovaries and fallopian tubes and renal anomalies.

Case report: 18 years old patient with symptom of primary amenorrhea was admitted to our hospital. She developed clinical signs of puberty at 13 years old. Physical examination showed an average height and weight (160 cm/54 kilos) and normal breast examination (Tanner 5) and normal axillary and pubic hair. Normal clitoris, labia major and minor were also noted. The USG showed an ectopic right kidney with rotation anomaly and ectopic left kidney which are located in the pelvis, and uterus and ovaries were not found. Biochemical analyses were in normal limit ranges. Hormone profile included Follicular stimulating hormone (4.2 mUI/ml), Estradiol (98 pg/ml) and testosterone (0.2 ng/ml), which were all normal, indicating normal function of the hypothalamic-pituitary-ovarian axis. The karyotype was normal (46, XX). Because of the discrepancy between the clinical and laboratory findings and ultrasound examination, MRI was performed, and confirmed that right and left ectopic kidney and the absence of uterus, nevertheless could not show ovaries.

Conclusion: MRKH atypical form is should be in mind if there are features of its history, physical examination, US and MRI evaluations in a patient with primary amenorrhea.