Delayed puberty with extreme uterine hypotrophy: do not conclude too early to the absence of the uterus
Edwige Yollin, Sophie Catteau-Jonard, Anne-Céline Reyss, Christine Cortet & Didier Dewailly
Objective: To emphasize the difficulties to distinguish between uterine agenesis and extreme uterine hypotrophy in the context of primary amenorrhea with delayed puberty.
Patients and methods: Among adolescents who consulted our center because of primary amenorrhea, from 1997 to 2005, three patients were referred for a suspicion of Mayer-Rokitansky-Kuster-Hauser Syndrome, after ultrasonography had failed visualizing the uterus. The 3 patients underwent endocrine and genetic evaluations. Pelvic examination was performed by transabdominal ultrasonography and MRI. Patients were placed under estrogen treatment.
Results: Endocrine evaluation indicated Primary Ovarian Failure for patient 1, and Hypogonadotrophic Hypogonadism for patients 2 and 3. Karyotype was 46,XX in all patients. Initial pelvic ultrasonography revealed the absence of uterus. MRI allowed vizualizing prepubertal uterus for patient 1, a hypotrophic uterus for patient 3 and concluded to uterine agenesis for patient 2. In all cases estradiol substitutive therapy induced uterine growth and confirmed retrospectively the diagnosis of extreme uterine hypotrophy.
Conclusion: Pelvic ultrasonography can be misleading in the evaluation of primary amenorrhea. No visualization of uterus on ultrasonography can occur in the context of delayed puberty and should not induce a premature diagnosis of Mayer-Rokitansky-Kuster-Hauser Syndrome. Indeed, such a diagnosis has therapeutic, reproductive and psychological consequences.