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Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not exclude the diagnosis of MRKHS. Familial cases of Müllerian anomalies and associated malformations of the urinary and skeletal systems strongly suggest a complex genetic etiology, but so far, the molecular mechanism in the vast majority of cases remains unknown. Primary amenorrhea may also be the first presentation of complete androgen insensitivity syndrome, steroid 5α-reductase type 2 deficiency, 17β-hydroxysteroid dehydrogenase type 3 deficiency, and Leydig cells hypoplasia type 1; therefore, these disorders should be considered in the differential diagnosis of the congenital absence of the uterus and vagina. The molecular diagnosis in the majority of these cases can be established.

Introduction: One of the transitional zones of the human body is situated in the cervix uteri. The developmental differentiation of epithelial and stromal characteristics in such a region is of high clinical interest. However, few studies have focused on the development of this region, and information in anatomical and clinical textbooks is limited. We therefore examined the development of the human vaginal fornix and the cervix uteri during prenatal development., Materials and Methods: We examined 29 female embryos and fetuses between 20 and 34 weeks and two newborns using histology and immunohistochemistry., Results: The characteristic shape of the portiocervicis and the vaginal fornix first became visible in mid-term fetuses because of the different muscular coats and of an uncategorized Müllerian-derived epithelium, which was rapidly replaced by a multilayered squamous epithelium. Only thereafter, in older fetuses, were there organogenetic differentiation of the epithelia and the underlying stroma of the cervical canal. UGS-derived p63/CK17-positive cells could be identified as precursor cells for the squamous epithelium, and Müllerian-derived CK7-positive cells for the columnar-type epithelium. Both cell types and different stromal zones were already present in a prenatal transformation zone. Initial functional differentiation could be observed in perinatal stages., Conclusions: Our results on prenatal human development strongly support the view that two different cell lineages meet at the transitional zone of the cervix uteri and that these lineages depend on alternative signals from the underlying stromal compartment., (© 2021 The Authors. Clinical Anatomy published by Wiley Periodicals LLC on behalf of American Association of Clinical Anatomists.)

Objective: Studies on the development of the embryological and fetal development of the cervix and the vagina are rare and mostly go back to the first decades of the last century. The aims of this review were to present the latest knowledge concerning the developmental origin of cervical and vaginal epithelium and to point out new results in the context of different clinical findings., Materials and Methods: Relevant studies published between 1910 and 2013 were identified via PubMed, MEDLINE, OVID, Web of Science, and EMBASE. The reference lists of retrieved articles were reviewed to locate additional articles. Each abstract was reviewed, and the appropriate publications were obtained and reviewed as well. A total of 33 articles and 8 book chapters were selected for citation in this review., Results: New objective findings clearly show that human prenatal epithelialization of the cervix and vagina results in 3 morphogenetically determined units: (i) the Müllerian columnar epithelium of the endocervix, (ii) the Müllerian squamous epithelium of the ectocervix and the upper vagina, and (iii) the vaginal squamous epithelium of the lower vagina., Conclusions: These results are of high clinical relevance and may provide new insight into the histogenesis of ectopy, vaginal adenosis, and the congenital transformation zone. They should be added to the explanations in gynecological, colposcopical, and gynecopathological textbooks.

Background: The existence of a longitudinal vaginal septum with double cervix communicating bilaterally with a nonseptate uterine body and normal adnexa is an unusual müllerian anomaly., Case: A 43-year-old woman presented with menorrhagia and duplication of the cervix and vagina. Afibromatous uterus was suggested by clinical examination and confirmed by ultrasonography. The patient underwent total abdominal hysterectomy with bilateral salpingooophorectomy. The surgical specimen revealed a fibromatous uterus with double cervix communicating bilaterally with a nonseptate uterine body; both adnexa were normal., Conclusion: This rare müllerian anomaly is inconsistent with the classical embryologic theory of caudal to cranial müllerian development but supports the alternative embryologic hypothesis suggested by Müller et al, according to which fusion and absorption begin at the isthmus and proceed simultaneously in both the cranial and caudal directions.

The first case of a rare mullerian anomaly characterized by the presence of a complete uterine septum with duplication of the cervix and a longitudinal vaginal septum has been reported very recently. We present here three new cases of such an anomaly in an attempt to alert gynaecologists to the possible occurrence of such a malformation. The cases challenge the classical views of unidirectional (caudad to cranial) mullerian development and support the alternative embryologic hypothesis of Muller et al. according to which fusion and resorption begins at the isthmus and proceeds simultaneously in both the cranial and caudal directions.

A case of aplasia of the uterine cervix and partial atresia of the vagina in a 17 year old woman is reported. A hysterectomy was done and a new vagina created. The literature on the origin of the different parts of the female genital tract is reviewed and discussed. Interpretation of the embryologic origin of the different parts is difficult. The indication for the hysterectomy was prevention of further endometriosis by retrograde menstruation, high probability of infertility because of the lack of the cervix and high probability of ascending infection should a new vagina be connected directly to the endometrial cavity. The case is presented to generate discussion on the management of cervical aplasia.

A woman with a septate vagina and two cervices was observed. One of the cervices ended blindly. The other cervix communicated with a normal corpus and two normally positioned patent fallopian tubes. Two explanations for the origin of this accessory cervix are offered: (1) that it originated from a fusion failure of the lower portions of the müllerian ducts, and (2) that it arose from the urogenital sinus.