1. Funda Gungor Ugurlucan, Omer Demir, Cenk Yasa, Suleyman Akhan
Concomitant Mullerian Agenesis and Hypogonadotropic Hypogonadism in a Girl Presenting with Primary Amenorrhea
Funda Gungor Ugurlucan, Omer Demir, Cenk Yasa, Suleyman Akhan
Istanbul University Istanbul Faculty of Medicine Department of Obstetrics and Gynecology

2. Introduction and Objective
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare disorder characterized by aplasia or hypoplasia of the uterus and vagina due to arrest in the development of the Müllerian ducts.
Women with this syndrome have the normal 46 XX karyotype, normal female secondary sexual characteristics, and present with primary amenorrhea.

3. Introduction and Objective
Hypogonadotropic hypogonadism (central hypogonadism) is associated with a decrease in gonadotropin releasing hormone (GnRH) or a hypophysis unresponsive to GnRH stimulation and leads to anovulation.
Idiopathic hypogonadotropic hypogonadism is presumptive, however, and can only be confirmed by normal radiologic studies of the hypothalamic-pituitary region.
Testing of other anterior pituitary endocrine function should also be undertaken to assure that the defect in gonadotropin secretion is isolated.

4. Here we present a rare case of concomitant Mayer Rokitansky Küstner Hauser syndrome and hypogonadotropic hypogonadism.

5. Case
A 17 year-old girl applied to our clinic with the complaint of primary amenorrhea.
Her medical history was unremarkable.
Physical examination revealed Tanner Stage 2 breast development and a short vagina of 3 cm in length on the vaginal examination.
Uterus could not be visualized by transabdominal and transrectal ultrasonography and the ovaries were not clearly distinguishable, either.

6. Case
Laboratory results revealed FSH: 3.62 mIU/ml LH: 2.79 mIU/ml, E2: 5 pg/ml.
Magnetic resonance imaging of the pelvis showed a narrow fibrotic vagina.
Uterus could not be visualized and Müllerian agenesis was confirmed.
The right ovary was measured as 2.1x7.5 mm and the left ovary was measured as 2.7x7.7 mm.

7. Case
The patient was diagnosed as Müllerian agenesis coexisting with hypogonadotropic hypogonadism.
Cranial Magnetic Resonance Imaging was obtained and was normal.
Bone mineral density was measured by DEXA method and vertebra T score was -3.6 and Z score was -3.4.
Estrogen and calcium+ vitamin D treatment was ordered and the patient was referred to physical therapy and rehabilitation specialists for osteoporosis management.

8. Cranial MRI

9. Cranial MRI

10. Cranial MRI

11. Conclusion
Rarely, multiple causes of primary amenorrhea may coexist in the same patient.
It is prudent to follow algorithms in the diagnosis of these complicated cases as well as using advanced imaging techniques when needed.