Endocrine Abstracts

Introduction: Primary amenorrhea is usually caused by either gonadal or anatomical abnormalities. Turner’s syndrome (TS) is the result of partial or complete absence of X chromosome in females with an incidence of 1 in 2500 live female births. Mullerian agenesis due to Mayer-Rokitansky-Hauser syndrome (M-R-K-H syndrome; embryonic underdevelopment of the vagina with variable uterine development) has an incidence of 1 in 5000 females and can be mistakenly diagnosed in patients with no prior exposure to oestrogen. We report a rare case of primary amenorrhea and absent Mullerian structures on index imaging.

Case Summary: A 17 year old girl presented to the endocrine team with primary amenorrhea. She was born without pregnancy complications and had a healthy childhood. She had short stature compared to her family members. Her mother and sister attained menarche at age of 16 and 14 respectively. Phenotypically, she was female, tanner stage 2 breast development, female genitalia, and sparse pubic hair. There were no typical features of TS. Body mass index was 30.3 kg/m². The rest of her physical examination was unremarkable. Biochemically, there was hypergonadotropic hypogonadism (Table¹). Radiologically, there was absence of uterus and Mullerian structures on transabdominal pelvic ultrasound. MRI abdomen and pelvic demonstrated normal kidneys, and absence of uterus, cervix, and ovaries with underdeveloped vagina. The cytogenetics analysis showed a mosaic karyotype with 45X 17%, normal female karyotype with 46XX 83%, consistent with mosaic Turner’s syndrome. Coeliac, Cardiology and audiological screening were unremarkable.

The patient was commenced on unopposed transdermal oestrogen supplementation for pubertal induction. The patient experienced withdrawal bleeding approximately 2 years after commencement of oestrogen and has since started progestin supplementation. A pelvic MRI will be repeated upon completion of pubertal induction to assess uterine development.

Conclusion: This is a rare case of TS presenting with radiological features of gonadal and Mullerian dysgenesis. M-R-K-H syndrome can be prematurely diagnosed in these patients. Uterine development can occur following exposure to oestrogen. Patient counselling is of importance the implication for fertility and possibility of conception at appropriate interval.