[Delayed puberty with extreme uterine hypotrophy: do not conclude too early to the absence of the uterus].
OBJECTIVE
To emphasize the difficulties to distinguish between uterine agenesis and extreme uterine hypotrophy in the context of primary amenorrhoea with delayed puberty.


METHODS
Among adolescents who consulted with our center because of primary amenorrhoea, from 1997 to 2005, three patients were referred for a suspicion of Mayer-Rokitansky-Kuster-Hauser Syndrome, after ultrasonography had failed to visualize the uterus. The 3 patients underwent endocrine and genetic evaluations. Transabdominal ultrasonography and MRI performed pelvic examination. 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 visualizing 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.


CONCLUSIONS
Pelvic ultrasonography can be misleading in the evaluation of primary amenorrhoea. 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.
Yollin
E
E
Service de gynécologie endocrinienne et médecine de la reproduction, clinique gynécologique, hôpital Jeanne-de-Flandre, CHRU de Lille, avenue Eugène-Avinée, 59037 Lille cedex, France.
Jonard
S
S
Reyss
A-C
AC
Cortet-Rudelli
C
C
Dewailly
D
D
D000293:Adolescent; D000568:Amenorrhea / Q000175:diagnosis / Q000209:etiology; D002869:Chromosome Aberrations; D005260:Female; D006059:Gonadal Dysgenesis / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D011628:Puberty, Delayed / Q000175:diagnosis / Q000209:etiology*; D013577:Syndrome; D014463:Ultrasonography; D014599:Uterus / Q000002:abnormalities* / Q000000981:diagnostic imaging