[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: Congenital absence of vagina is known from ancient times of Greek. According to the literature data, incidence is 1/4 000 to 1/20 000. Treatment of this anomaly includes non-operative and operative procedures. McIndoe procedure uses split skin graft by Thiersch. The aim of this study was to establish anatomic and histological characteristics of vagina reconstructed by McIndoe method in Mayer Küster-Rockitansky Hauser (MKRH) syndrome and compare them with normal vagina. The study included 21 patients of 18 and more years with congenital anomaly known as aplasio vaginae within the Mayer Küster-Rockitansky Hauser syndrome. The patients were operated on by the plastic surgeon using the McIndoe method. The study was a retrospective review of the data from the history of the disease, objective and gynecological examination and cytological analysis of native preparations of vaginal stain (Papanicolau). Comparatively, 21 females of 18 and more years with normal vaginas were also studed. All the subjects were divided into the groups R (reconstructed) and C (control) and the subgroups according to age up to 30 years (1 R, 1C), from 30 to 50 (2R, 2C), and over 50 (3R, 3C). Statistical data processing was performed by using the Student's t-test and Mann-Writney U-test. A value of p < 0.05 was considered statistically significant. The results show that there are differences in the depth and the wideness of reconstructed vagina, but the obtained values are still in the range of normal ones. Cytological differences between a reconstructed and the normal vagina were found. A reconstructed vagina is smaller than the normal one regarding depth and width, but within the range of normal values. A split skin graft used in the reconstruction, keeps its own cytological, i.e. histological and, so, biological characteristics.
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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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