#382 : Congenital Adrenal Hyperplasia with Concomitant Mullerian Agenesis: A Rare Occurance in 46 XX Disorders of Sexual Development (DSD)

Abstract

Background and Aims: The most common cause of 46 XX DSD is due to congenital adrenal hyperplasia with varying degree of virilization. Females with CAH do not produce anti mullerian hormone (AMH), therefore the internal genitalia, which are mullerian derivatives, are develop normally. We report a unique case of CAH with absent uterus, cervix, and fallopian tube. Method: The clinical, laboratory, and imaging findings of the patient are presented with literature review. Results: We report an ongoing case of a 20-year-old patient with ambiguous genitalia and primary amenorrhea. She was born from a healthy mother and raised as a female. There was no family history of the same disorder. On physical examination we found that she had normal height, normal blood pressure, palatoschizis, undeveloped breast (Tanner stage 1), and clitoral virilization with single urovaginal opening (Prader stage 3). We performed a G-Banded chromosome analysis, with 46 XX results. Laboratory test showed her 17-hidroxyprogesterone level was 176,93 ng/ml, FSH level was 3,06 mIU/ml, LH level was 2,21 mIU/ml, and estradiol level was 18,0 pg/mL. Ultrasound imaging revealed the absence of uterus, cervix, and vagina, as well as abnormal appearance of ovarium. We have planned to perform a complete MRI study for other anomalies as we suspected this patient had Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type II. Conclusion: In the presence of external genitalia and urinary tract malformations in patients with CAH, it is important to investigate for possible associated mullerian anomalies. A comprehensive approach in diagnosis could lead to a better outcome in a patient’s treatment and wellbeing.