LBODP067 Primary Amenorrhea - A Common Referral With An Uncommon Cause

INTRODUCTION: Primary amenorrhea is a commonly encountered referral in the endocrine setting. Thorough history and clinical examination are integral in assessment to identify the cause. Although rare, congenital absence of the uterus and vagina constitutes the second most common cause after primary ovarian insufficiency. Once endocrine causes are excluded, anatomical causes must be explored. CASE: We present the case of a 17-year-old who was referred to our Endocrine unit by primary care with primary amenorrhea. Medical history was significant for acute myeloid leukaemia which was treated with chemotherapy and cranial radiotherapy at the age of 2 years. There was no family history of endocrinopathy. Physical examination revealed no significant abnormalities with a height of 154cm and Tanner staging of 5 in all areas. The patient and her parents were concerned about delayed puberty or hypogonadotropic hypogonadism due to previous oncology treatments. Biochemistry showed normal oestradiol 262 pmol/L, Prolactin 258 mU/L, LH 11.8IU/L, FSH 6.6IU/L, Testosterone 1.1 nmol/L, IGF-1 211 ug/L, TSH 1.7mu/L, T4 12.7 pmol/L, AMH 23.5 pmol/L. Bone age was 17 years 5 months, in keeping with chronological age. Considering normal endocrine investigations and development, anatomical causes of primary amenorrhoea were investigated with ultrasound and then subsequently MRI imaging. This demonstrated the absence of the uterus and upper two thirds of the vagina. Both ovaries were present, and she also had a single pelvic kidney. Results are in keeping with Mullerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome type 2). The patient was counselled on the impact this would have on fertility and sexual functioning and offered psychological support with this diagnosis. CONCLUSION: Mayer-Rokitansky-Küster-Hauser (MRKH) is a rare disorder with prevalence of 1 in 4500 and is usually diagnosed in adolescents with primary amenorrhea as first presentation. Genetic origins have been suggested and further research is required as this could impact fertility choices for patient moving forward. This case highlights many of the differential diagnoses at presentation and the need for cross sectional imaging to fully appreciate anatomical and therefore clinical consequences. Presentation: No date and time listed