Ambiguous genitalia: diagnosis, evaluation, and treatment.

The pediatric radiologist plays a significant role in the evaluation and the treatment of infants with ambiguous genitalia. On the first day of life, an investigation should be initiated that includes studies, in particular a sonogram, to demonstrate the presence or absence of a uterus, and a genitogram to define the presence of a vagina. Once gender assignment has been made, information regarding the size of the vagina and its position in regard to the urogenital sinus becomes essential to the pediatric urologist when planning a course for reconstruction. Herein we break down intersex states into four major categories: female pseudohermaphroditism, male pseudohermaphroditism without müllerian structures, and male hermaphroditism with müllerian structures and true hermaphroditism. The role of the radiologist in each of these states is discussed.     

Septate versus bicornuate uteri: errors in imaging diagnosis

Since two müllerian defects, the septate and bicornuate uteri, are no longer repaired by means of the same operative approach, an accurate preoperative diagnosis of these anomalies is now critical. A septum can be removed by means of hysteroscopic metroplasty. However, repair of a bicornuate uterus still requires abdominal surgery. Hysterosalpingography (HSG) has been the primary diagnostic modality for müllerian defects. On the basis of 63 patients, HSG findings alone, as interpreted by the radiologist, had a diagnostic accuracy of 55%. When this was supplemented with a gynecologic evaluation, the diagnostic accuracy improved to only 62.5%. However, when a diagnostic protocol that include ultrasound (US) examination with HSG was used for evaluating müllerian defects, the diagnostic accuracy improved to 90%, with all errors being noncritical. Therefore, it is concluded that HSG alone is not adequate to make the distinction between a septate and a bicornuate uterus unless the angle of divergence of two straight uterine cavities is 75 degrees or less, indicating a septate uterus. Luteal-phase US is frequently necessary to distinguish between these anomalies or to diagnose them in combination.     

Müllerian duct cyst: diagnosis with MR imaging

The value of magnetic resonance (MR) imaging in diagnosing clinically suspected müllerian duct cysts was assessed in six patients. MR imaging correctly demonstrated the abnormality to be intraprostatic, consistent with the diagnosis of müllerian duct cysts in four patients, and allowed the diagnosis to be excluded in the other two. The demonstration of prostatic zonal anatomy, the ability to obtain direct images in all three orthogonal planes, and a large field of view make MR imaging valuable in the study of suspected müllerian duct cysts.     

Transverse testicular ectopia associated with persistent Mullerian duct syndrome - the role of imaging

Persistent Müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism, characterized by the presence of a uterus and fallopian tubes owing to failure of Müllerian duct regression in genotypically normal males. More than 150 cases have been recorded, most of them in adults. The association between a persistent Müllerian duct and transverse testicular ectopia is even more uncommon. We report a case of a male infant diagnosed transverse testicular ectopia with PMDS.     

Symptomatic perirenal serous cysts of müllerian origin mimicking renal cysts on CT

OBJECTIVE: Our aim was to describe the clinical presentation, CT appearance, and management of a series of symptomatic perirenal serous cysts of müllerian origin, confirmed by laparoscopic resection. CONCLUSION: Perirenal serous cysts of müllerian origin are uncommon lesions that may present as large symptomatic perirenal cystic masses mimicking exophytic renal cysts on CT. Serous cyst of müllerian origin should be considered in the differential diagnosis when CT reveals a large solitary perirenal cyst in a woman with flank or abdominal pain or both. Laparoscopic resection may be an effective treatment of such cysts.     

Müllerian duct anomalies: Embryological development,classification, and MRI assessment

Müllerian duct anomalies (MDA) occur due to abnormal development of the uterus, cervix, and vagina, many times affecting a woman's ability to conceive and carry a pregnancy to term. The spectrum of possible abnormalities are related to the development of two separate Müllerian systems, which then fuse and subsequently undergo degeneration of the fused segments. This multiphasic development explains the multiple variations within the scheme of MDA classification. The purpose of this article is to review the embryologic development of the Müllerian ducts, relate the development to the most commonly used classification system, and review the magnetic resonance imaging (MRI) assessment of Müllerian duct anomalies. A brief review of the treatment options, as they relate to the imaging diagnosis, will be provided as well. J. Magn. Reson. Imaging 2015;41:1–12. © 2014 Wiley Periodicals, Inc .     

Duplication of the müllerian ducts and genitourinary malformations. Part II: analysis of malformations

Forty-seven females with duplication of the uterus and cervix were retrospectively studied to obtain a better understanding of the reasons for failure of fusion of the müllerian ducts by analyzing the associated genitourinary malformations. Thirty-one of the 47 patients had major genitourinary malformations that corresponded to three main complexes of anomalies. Cloacal anomalies were present in 16 patients, exstrophy in two, and combined cloacal and exstrophic deformities in another two. Renal malformations ipsilateral to a unilateral occluded müllerian duct were seen in 11 patients, and in four of these an ectopic ureter opened into the occluded duct. From the analysis of these anomalies it is proposed that duplication of the female genital system, when not an isolated event, may be secondary to interference of the normal process of müllerian fusion by a persistent cloacal duct, an abnormal pelvic girdle, or an ectopic ureter.     

MRI in the evaluation of müllerian duct anomalies

OBJECTIVE: Müllerian duct anomalies (MDAs) result from nondevelopment or nonfusion of the müllerian ducts and occur in 1-5% of women. Accurate diagnosis of the various subtypes is of great importance as MDAs are frequently associated with a broad variety of clinical symptoms. Recently, evidence arose that MRI might play a major role in diagnosis of MDAs. We present four cases of diverse subtypes of MDAs and the corresponding MRI findings. MATERIALS AND METHODS: Patients (n = 4) with clinical suspicion of MDAs were examined with MRI. Coronal and transaxial T1- and T2-weighted images were acquired. Diagnosis was made and patients were grouped according to the American Fertility Society's classification. Patients underwent laparoscopy or laparotomy in order to confirm the diagnosis. RESULTS: MRI revealed MDAs in all patients. In detail, one patient was diagnosed with hypoplastic uterus, one with unicornuate uterus with a noncommunicating rudimentary horn, one with bicornuate uterus bicollis with a double vagina and one with septate uterus. MRI diagnosis was correct in all cases, as confirmed by subsequent surgical intervention. CONCLUSION: MRI is a valuable tool in diagnosis of MDA subtypes. Its use will help to spare patients mutilating surgery and to prevent pregnancy-associated complications.     

Mixed müllerian sarcoma of the uterus: MR imaging findings

MR images of seven patients with histologically documented mixed müllerian sarcoma were analyzed retrospectively to determine whether the scans showed findings that could suggest the diagnosis. Spin-echo T1- and T2-weighted sagittal and transverse images from either a 0.35- or a 1.5-T unit were available for each patient. MR image analysis included evaluation of tumor signal intensity on T1 and T2 images; tumor location, size, and extent; depth of myometrial invasion; and presence of pelvic metastases. In all seven patients, MR images showed a large endometrial mass deeply invading the myometrium or beyond. In addition, MR images showed intraperitoneal (two patients) and ovarian (one patient) metastases. Although the massiveness of the tumors on initial presentation may suggest the diagnosis of mixed müllerian sarcoma, the MR imaging findings are nonspecific and mimic invasive endometrial carcinoma.     

The Drash syndrome: male pseudohermaphroditism, nephritis, and Wilms tumor

We report the radiographic and clinical findings of five infants and children who had the combination of male pseudohermaphroditism, progressive nephritis, and Wilms tumor. The components of this syndrome are so striking that the radiologist can often suggest the diagnosis months to years before all three components are apparent, if proteinuria, hypertension, or an abdominal mass develop in any child with male pseudohermaphroditism. Since the progressive renal failure probably can be managed by dialysis or renal transplantation in some cases, prompt recognition and treatment of the Wilms tumor may permit the child to live a long and relatively normal life.     

US of the pediatric female pelvis: a clinical perspective.

When investigating pelvic pathologic conditions in female pediatric patients, one needs to be aware of the developmental changes that take place around puberty. The prepubertal uterus is thin, with a fundus equal in size to the cervix. Owing to the hormonal stimulation of puberty, the uterus enlarges and the fundus becomes prominent. The ovaries are demonstrated with ultrasonography (US) at all ages. Ovarian volume increases after 6 years of age. Microcystic follicles are normally seen throughout childhood. US is the modality of choice for imaging the pediatric female pelvis. The main indications for pelvic US in the pediatric age group are pubertal precocity or pubertal delay, pelvic pain or pelvic masses, and ambiguous genitalia. Vaginal bleeding in the prepubertal child can be due to a vaginal foreign body, vaginal rhabdomyosarcoma, or precocious puberty. Common causes of primary amenorrhea in teenagers include gonadal dysgenesis (Turner syndrome) and müllerian (uterovaginal) anomalies. Pelvic pain or pelvic masses in pediatric patients can be due to ovarian torsion, hemorrhagic ovarian cyst, pelvic inflammatory disease, or ectopic pregnancy.     

Female form of persistent müllerian duct syndrome: MDCT findings

Persistent müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism. Two anatomic forms are described in this syndrome, the male and the female one; the second one is usually associated with bilateral cryptorchidism. About 150 cases are reported in literature; most of them are focused on anatomical, genetic, and surgical aspects. Radiological imaging features, important for diagnosis and therapy planification, are rarely reported. We describe a case of a female type of PMDS studied with multidetector computed tomography.     

The spectrum of imaging appearances of müllerian duct anomalies: focus on MR imaging

Müllerian duct anomalies (MDAs) are the result of incomplete development, vertical or lateral fusion, or absorption of the müllerian ducts. The range of anomalies includes uterovaginal agenesis or hypoplasia, unicornuate uterus, uterus didelphys, bicornuate uterus, septate uterus, and arcuate uterus. Correct diagnosis and classification of these anomalies are essential because pregnancy outcomes and treatment options vary between the types of anomaly. Furthermore, early identification of MDAs helps to avoid prolonged symptomatic periods and the complications that may subsequently arise, such as infertility, endometriosis, and neoplasm. Although many of these abnormalities are initially diagnosed by ultrasound or hysterosalpingography, MR imaging is the most accurate noninvasive modality available for classification of the various anomalies because of its better anatomic assessment compared with other diagnostic modalities. Familiarity with the wide variety of MDA presentations can help in the planning of appropriate treatment.     

The demonstration of true hermaphroditism by computed tomography

Intersex states are rare but if unsuspected may cause diagnostic confusion. We describe one such patient with true hermaphroditism which was misdiagnosed on computed tomography (CT). Laparotomy revealed a female genital tract and histology confirmed the presence of ovatestes, despite a male phenotype.     

Complete androgen insensitivity syndrome with microtia: a rare presentation

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder characterized by a female body habitus and male genotype. The Müllerian duct derivatives are absent or rudimentary, and the testes are undescended. Microtia is characterized by a malformed auricle; and in some cases it is genetically transmitted with a non-sex-linked inheritance pattern. The presence of CAIS with microtia has not been documented previously, and this is the first case to describe the radiological findings of this rare presentation.     

女性假两性畸形影像表现

目的评价女性假两性畸形的影像学特点。方法回顾性分析9例女性假两性畸形的影像资料。结果7例未经激素治疗者，双侧肾上腺内外支一致性增粗、延长、扭曲，其中2例呈结节状、肿块状；2例长期补充激素者中，1例肾上腺延长但不增粗，另1例与未治疗者相仿，且有髓质瘤形成；4例有子宫、卵巢发育不良。结论女性假两性畸形为遗传性疾病，其肾上腺增生、内生殖器官发育不良为继发性，影像学检查可早期发现，如及早治疗，上述改变可望恢复正常。     

Ultrasound of female genital anomalies

Congenital anomalies of the female genital tract result from müllerian duct anomalies and/or abnormalities of the urogenital sinus or cloaca. Due to the close developmental relationship between the genital and the urinary tracts, association of anomalies in both systems are common. This article reviews the appearance of developmental anomalies of the female urinary and genital tracts and points out common associated malformations to allow an early and complete sonographic assessment of affected infant.     

MR imaging of müllerian mucinous borderline tumors arising from endometriotic cysts

This report describes MR findings of müllerian mucinous borderline tumors, pathologically proven to have arisen from endometriotic cysts, in three patients. They were unilocular or paucilocular masses with mural nodules. Cystic components showed hyperintensity on both T1- and T2-weighted images, simulating clear cell or endometrioid carcinomas arising from endometriotic cysts. Mural nodules showed prominent high signal intensity on T2-weighted images. Correlation with pathologic findings suggests that this hyperintensity reflects intraluminal mucinous material and stromal edema.     

A giant stone in the müllerian duct cyst

Cystic diseases in the male pelvis are uncommon, and stones found in male pelvic cysts are very rare. We report a case of a giant stone found in the male pelvis. Computed tomography was helpful in locating the stone, and surgery revealed it to be a Müllerian duct cyst.     

A giant stone in the Müllerian duct cyst

Cystic diseases in the male pelvis are uncommon, and stones found in male pelvic cysts are very rare. We report a case of a giant stone found in the male pelvis. Computed tomography was helpful in locating the stone, and surgery revealed it to be a Müllerian duct cyst.