A 18 year old girl with primary amenorrhea

 

Images

Doctor's Information

Name : Maryam
Family : Noori
Affiliation :Teb Azma Imaging Center,Ghom,Iran
Academic Degree : Radiologist
Email : This email address is being protected from spambots. You need JavaScript enabled to view it.
Resident : ------------------

 

Case Section

Genital Female Imaging

 

Patient's Information

Gender : Female
Age : 18

 

Clinical Summary

The girl complained of amenorrhea.

 

Imaging Findings

On axial, sagital T2& contrast enhanced images, a small soft tissue uterine remnant in the expected location of the uterus is identified & the upper 2/3 of the vagina is hypoplastic and atretic without normal zonal anatomy. Ovaries are well visualized on coronal T2 fat sat images & normally appeared also left ovary contains dominant follicle (depicted on T2 & contrast enhanced images).

 

Differential Diagnosis

Gonadal Dysgenesis: Hypoplastic uterus with atrophic vagina, streak gonads Androgen Insensitivity Syndrome: Absent uterus, upper 2/3 vagina& ovaries+ Testes (usually undescended) & Male karyotype (46 XY) Pseudohermaphrodite (Male): Variable development of uterus, upper 2/3 vagina, partial masculinization of external genitalia &Male karyotype (46 XY). DES-exposure: Hypoplastic uterus with T-shaped endometrial cavity, myometrial constriction bands +vagina present Total Hysterectomy: Absent uterus+ vagina present with normal zonal anatomy.

 

Final Diagnosis

uterine hypoplasia, Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.

 

Discussion (Related Text)

The lower part of the vagina develops from the urogenital sinus, while the uterine tubes, uterus, cervix, and upper part of the vagina derive from the paired Mullerian ducts of the embryo. Mullerian duct anomalies result from agenesis, absent or incomplete fusion of the two ducts, or failure of septal resorption. Such anomalies are present in 2- 3 % of all women and are diagnosed in 9-25 % of women presenting with infertility or a history of miscarriage. MRI allows good evaluation for agenesis of the different parts of the urogenital tract, except for the ovarian tubes. The most common form of urogenital agenesis is Mayer-Rokitansky-Kuster-Hauser syndrome, which is characterized by the absence of the uterus, cervix, and upper part of the vagina, while the tubes and ovaries are normal in most cases. It is the second most common cause of primary amenorrhea after gonadal dysgenesis. Isolated agenesis or hypoplasia of the uterus is very rare. Absence of the uterus is best seen on sagittal T2w images, while absence of the cervix and proximal vagina is easier to identify on axial images. In Mayer-Rokitansky- Kuster-Hauser syndrome, there is prominent absence of the uterus and cervix with a blind-ending lower vagina. A hypoplastic uterus with absence of the upper vagina is rare.

 

References

Diagnostic Imaging Gynecology, Hricak et al.

 

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