[Delayed puberty with extreme uterine hypotrophy: do not conclude too early to the absence of the uterus].

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.
Gynécologie Obstétrique & Fertilité (Impact Factor: 0.52). 12/2006; 34(11):1029-35.
Source: PubMed


To emphasize the difficulties to distinguish between uterine agenesis and extreme uterine hypotrophy in the context of primary amenorrhoea with delayed puberty.
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.
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.
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.

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    ABSTRACT: Congenital hypogonadotropic hypogonadism is one of the causes of pubertal failure and primary amenorrhea, it is related to uterine hypotrophy. If the uterus is extremely hypotrophied, it is difficult to identify in imaging studies and can be misdiagnosed as a structural anomaly of internal genitalia. We report a case of extreme uterine hypotrophy in 18-year-old girl with primary amenorrhea that was finally diagnosed as hypogonadotrophic hypogonadism. The patient was initially suspected of Müllerian agenesis owing to the invisible uterus. After 4 months of treatment with estrogen, she showed significant growth of the uterus.
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    ABSTRACT: Primary amenorrhea can be a sign of either delayed puberty or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A virgin 27-year-old woman with pubertal failure, primary amenorrhea, and uterine hypotrophy due to hypogonadotropic hypogonadism sought treatment at our institution. She was diagnosed as having MRKH syndrome 10 years ago at another institution after pelvic ultrasonography revealed no uterus or ovaries. Unfortunately, no further investigations had been made or treatments implemented during the ensuing decade. In female patients in whom the uterus cannot be visualized with ultrasonography, magnetic resonance imaging and/or laparoscopy should be considered to ensure that the diagnosis is correct. Besides further imaging, hormonal assessment and breast development should always be initially considered for the diagnosis of delayed puberty and MRKH syndrome.
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