Hydrometrocolpos: a Contemporary Review of the Last 5 Years.

PURPOSE OF REVIEW: The goal of this review is to provide a comprehensive overview of hydrometrocolpos, covering disease etiology, pathophysiology, clinical presentation, and diagnostic and management techniques, and known outcomes. RECENT FINDINGS: This narrative review presents the literature on hydrometrocolpos in the pediatric population from the past 5 years. We highlight the 69 reported cases of hydrometrocolpos and classify them based on type of obstruction or associated anomaly, discuss new diagnostic algorithms based on imaging, and present novel and underutilized surgical techniques for definitive management. Hydrometrocolpos, a condition characterized by retained fluid causing a distended vagina and uterus in the setting of a distal vaginal outflow obstruction, has a wide range of presentation severity based on the type of obstruction. Whether hydrometrocolpos is due to an isolated condition like imperforate hymen, a complex abnormality like cloacal malformation, or a part of a large congenital syndrome, the mainstay of treatment is decompression of the dilated vagina and surgical correction of the outflow obstruction. Imaging-based diagnostic algorithms and new treatment techniques reported in the literature, as well as longitudinal and patient-reported outcome research, can improve the lives of children affected by this condition.

Characteristics of fetal physiological and pathological uterine effusion observed on prenatal ultrasonography: a case report.

BACKGROUND: The prenatal detection rate of fetal uterine effusion is very low, and current case reports mainly focus on pathological hydrometrocolpos. We presented two cases of fetal physiological uterine effusion with different ultrasonic characteristics and compared them with one case of hydrometrocolpos with the hope of identifying strategies to reduce misdiagnosis of fetal uterine effusion. CASE PRESENTATION: This paper reports the cases of two female fetuses with abnormal pelvic echoes in the third trimester, referred to a tertiary center to be screened for suspected pelvic teratoma and cystic mass, respectively. Ultrasound consultation revealed fetal uterine effusion. The two fetuses were delivered at our hospital after a full term. Re-examining the uterus and adnexa of the neonates revealed that the uterine effusion had subsided naturally. Another female fetus had a large cystic mass in the pelvic cavity in the third trimester, and prenatal examination indicated fetal hydrometrocolpos. The fetus was delivered at our hospital after a full term. The hydrometrocolpos existed even after birth. After consultation with a neonatal surgeon and gynecologist, the newborn was diagnosed with congenital imperforate hymen with hydrometrocolpos. Hymen puncture and open drainage led to a good prognosis. CONCLUSIONS: Prenatal ultrasonography plays an important role in diagnosing and differentiating between physiological and pathological fetal uterine effusion. It can help reduce misdiagnoses that can lead to incorrect clinical decisions.

Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome.

This report describes a variant of McKusick-Kaufman syndrome presenting with a large fetal abdominal cyst of hydrometrocolpos at 37 weeks of gestation. The diagnosis was based on the ultrasound findings of a large homogeneous hypoechoic cyst (diameter of >10 cm) with incomplete septum, thickened wall, superiorly connecting to the dilated uterus, consistent with hydrometrocolpos. Additionally, pre-axial mirror polydactyly of the left foot was suspected. Postnatal examination/work-up confirmed the prenatal findings. This is the first report of prenatal diagnosis of hydrometrocolpos with complex polydactyly of mirror image pre-axial duplications containing nine toes instead of six-toe postaxial polydactyly.

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature.

BACKGROUND: Paediatric cutaneous granuloma with primary immunodeficiency (PID) is a rare condition. The physiopathology is unclear, and treatment is challenging. We report on 17 paediatric cases and review the literature. OBJECTIVES: To make dermatologists and dermatopathologists aware of the diagnostic value of skin granulomas in paediatric PID. METHODS: We collected data on 17 patients with cutaneous granulomas and PID registered with us and also reviewed 33 cases from the literature. RESULTS: Cutaneous granuloma was the presenting feature of the PID in 15 of the 50 collated cases. The lesions presented as red-brownish nodules and infiltrated ulcerative plaques, predominantly on the face and limbs. Scleroderma-like infiltration on a single limb was observed in 10% of the cases. The associated PID was ataxia-telangiectasia (52%), combined immunodeficiency (24%), cartilage-hair hypoplasia (6%) and other subtypes (18%). The granulomas were mostly sarcoidal, tuberculoid, palisaded or undefined subtypes. In some patients, several different histopathologic granulomatous patterns were found in the same biopsy. Some granulomas were associated with the presence of a vaccine strain of rubella virus. CONCLUSION: Cutaneous granulomas associated with a PID have a variable clinical presentation. A PID can be suspected when crusty, brownish lesions are found on the face or limbs. The concomitant presence of several histological subtypes in a single patient is suggestive of a PID.

Vaginal reconstruction for distal vaginal atresia without anorectal malformation: is the approach different?

INTRODUCTION: Distal vaginal atresia is a rare condition and treatment approaches are varied, usually driven by symptoms. METHODS: A retrospective review was performed to identify patients with distal vaginal atresia without anorectal malformation. Data collected included age and symptoms at presentation, type and number of operations, and associated anomalies. RESULTS: Eight patients were identified. Four presented at birth with a hydrocolpos and four presented with hematometrocolpos after 12 years of age. Number of operations per patient ranged from one to seven with an average of three. The vaginal reconstruction was achieved by perineal vaginal mobilization in four patients and abdomino-perineal approach in four patients. One patient, with a proximal vagina approximately 7 cm from the perineum, required partial vaginal replacement with colon. In addition, she had hematometrocolpos with an acute inflammation at the time of reconstruction despite menstrual suppression and drainage which may have contributed to the difficulty in mobilizing the vagina. In five patients, distal vaginal atresia was an isolated anomaly. In the other three cases, associated anomalies included: mild hydronephrosis that improved after hydrocolpos decompression (2), cardiac anomaly (2), and vertebral anomaly (1). CONCLUSION: In this series, a distended upper vagina/uterus was a common presentation and the time of reconstruction was driven by the presence of symptoms. Drainage of the hydrocolpos/hydrometrocolpos with menstrual suppression in post-pubertal patients, followed by further work-up, and planned reconstruction is a good surgical strategy.

Hydrometrocolpos etiology and management: past beckons the present.

Hydrometrocolpos is a rare condition in which the uterus and the vagina are grossly distended with a retained fluid other than pus or blood. It may present during the neonatal period or later at puberty. Most cases reported earlier were stillbirths and were diagnosed only on autopsy. Antenatal diagnosis is now possible with the advent of ultrasound. An early diagnosis and speedy management is the key to survival. Many previous case reports have focused on the varied clinical presentations, multiple causes, associated syndromes and/or the radiological diagnosis of this condition. However, management options for different types of hydrometrocolpos have not yet been concisely discussed. We have reviewed the literature and tried to summarize the management options applicable to most case scenarios of hydrometrocolpos.

[McKrittick-Wheelock syndrome. Report of one case]. / Síndrome de McKittrick-Wheelock. Una causa infrecuente de hipokalemia e injuria renal aguda. Caso clínico.

McKittrick-Wheelock syndrome is caused by chronic water and electrolyte hypersecretion from an intestinal tumor, usually a villous adenoma, located in the rectum or sigmoid. Patients often have dehydration, hypovolemic shock and kidney failure associated with hypokalemia, hyponatremia, hypochloremia and metabolic acidosis. We report a 62-year-old male, suffering chronic diarrhea for eight years who was admitted after a syncope. He had severe hypokalemia, hyponatremia, metabolic acidosis, hypovolemia and acute renal failure. After his metabolic disorders were corrected, a colonoscopy showed a large rectosigmoid tumor with the characteristics of a villous adenoma. During the follow up after the complete tumor resection, the patient has remained asymptomatic.

[A rare cause of hyponatraemia: McKittrick-Wheelock syndrome. Case report]. / A hyponatraemia ritka oka: McKittrick­Wheelock-szindróma.

Authors present a case of acute renal failure and hyponatraemia caused by a secretory tubulovillous adenoma of the colon, the rare so called McKittrick-Wheelock syndrome. A 75 year old woman was in need of treatment many times on medical wards because of watery diarrhoea, severe dehydration, hydroelectrolyte disturbance. The authors keep their case to be worthy to present, owing to the syndrome's rarity and difficulties of differential diagnosis. Orv Hetil. 2017; 158(18): 711-714.

A case report of a giant rectal adenoma causing secretory diarrhea and acute renal failure: McKittrick-Wheelock syndrome.

BACKGROUND: The McKittrick-Wheelock syndrome is a rare depletion syndrome caused by a secretory villous adenoma or a carcinoma of the rectosigmoid tract. An aggressive hydroelectrolyte rebalancing is often needed, and curative treatment is obtained only with complete removal of the lesion, by endoscopy or surgery. Low clinical suspicion often delays the diagnosis, resulting in detrimental complications. CASE PRESENTATION: We report the case of a 75-year-old woman, presenting to the emergency department with acute renal failure and electrolyte imbalance, reporting an history of recurrent episodes of dehydration and chronic diarrhea. After being admitted to the nephrology department she underwent diagnostic investigation that revealed the presence of a giant adenoma of the rectum. The patients received supportive therapy and was subsequently treated with surgery, with a favorable outcome. CONCLUSIONS: A prompt diagnosis plays an important role in the treatment of McKittrick-Wheelock syndrome. We describe a case of this condition in detail and review the related literature, underlining the typical diagnostic features and exploring the possible therapeutic options.

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management.

MAIN FINDINGS: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinar team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.

A gynaecologic perspective on cloacal malformations.

PURPOSE OF REVIEW: Advances in surgical reconstruction of cloacal malformations have led to better functional outcomes and quality of life. As a result, adolescents and women born with these complex malformations will have the same aspirations as their peers including sexual relationships and fertility. RECENT FINDINGS: Currently, there is a paucity of data on gynaecologic outcomes and sexual function, and obstetric data are limited primarily to case reports. Making evidence-based clinical recommendations is difficult for gynaecologic providers. Unique gynaecologic issues can arise in infancy, adolescence or adulthood. Recognition and appropriate management of these complications is imperative to maximize sexual esteem and preserve future fertility. Pregnancy requires adequate prenatal preparation and specialized multidisciplinary care under an experienced obstetrician and urologist. SUMMARY: This review highlights the issues that may be encountered in providing gynaecologic care to patients with cloacal malformations, presents the available literature to provide informative evidence and identifies gaps in knowledge in order to suggest potential future research opportunities.

Herlyn-Werner-Wunderlich syndrome: a very rare urogenital anomaly in a teenage girl.

BACKGROUND: Herlyn-Werner-Wunderlich (HWW) syndrome is an uncommon variant of Müllerian duct anomalies, consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents in a post-pubertal adolescent or adult woman in whom hematometrocolpos produces a pronounced mass effect and pain on the side of the obstructed hemivagina. CASE REPORT: We report the case of a 13-year-old girl who presented to the emergency radiology department with sudden onset of severe pain at the right lower quadrant of the abdomen; imaging confirmed the diagnosis of HWW syndrome. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: When unilateral renal agenesis and uterus didelphys coexist, the first thing that the physician should remember is to confirm or refute the presence of a blind vagina for diagnosis of HWW syndrome.

Fetal hydrometrocolpos, uterus didelphys with low vaginal and anal atresia: difficulties in differentiation from a complex cloacal malformation: a case report.

Hydrometrocolpos, occurring in approximately 1/6000 newborn girls, can be caused by a stenotic urogenital sinus, a severe cloacal malformation, but also by other conditions such as an imperforate hymen, a midline vaginal septum and vaginal atresia. The prenatal differential diagnosis of this wide spectrum of conditions is not easy and requires a multidisciplinary approach with follow-up scans and MRI to access the severity of the condition. A non-consanguineous couple was referred in the first pregnancy at 30 weeks. The father, 30 years of age, of Kaukasian origin, and the mother of Asian origin, 26 years of age. Ultrasound at 30 weeks revealed ambiguous genitalia (with suspicion of clitoral hypertrophy), a septated structure located behind the bladder compatible with hydrometrocolpos with a uterine malformation (uterus didelphys), a single umbilical artery, mild ascites and growth on the tenth centile. The differential diagnosis included a vaginal atresia, a urogenital sinus and a more severe cloacal malformation. After serial scans, MRI and counselling by an experienced surgeon the preferential diagnosis of a cloacal malformation was made and a late pregnancy termination was performed. Pathological examination revealed: low vaginal atresia with uterus didelphys, anal atresia with rectovaginal fistula and a normal urinary tractus. The differential diagnosis between hydrometrocolpos due to vaginal atresia or due to a more severe cloacal malformation is not straightforward. Care should be taken in decision making and counselling patients with these complex prenatal malformations.

Prenatal counseling for cloaca and cloacal exstrophy-challenges faced by pediatric surgeons.

INTRODUCTION: With the advance of prenatal imaging, more often pediatric surgeons are called for prenatal counseling in suspected cases of cloaca or cloacal exstrophy. This presents new challenges for pediatric surgeons since no specific guidelines have been established so far. The purpose of this review is to analyze our experience in prenatally diagnosed cloaca or cloacal exstrophy and to provide some guidelines for prenatal counseling of these complex congenital anomalies. METHODS: A retrospective review of the medical charts of patients with prenatally diagnosed cloaca and cloacal exstrophy who received postnatal care in our institution between July 2005 and March 2012 was performed. Representative images of prenatal studies were selected from 13 cases to illustrate different scenarios and the recommendations given. In addition, a review of the literature was performed to support our advice to parents. RESULTS: Eleven patients were female and two patients were male. The postnatal diagnoses were cloacal exstrophy (6), cloaca (5), posterior cloaca variant (1), and covered cloacal exstrophy (1). The selected abnormal prenatal imaging findings in these 13 patients included hydronephrosis (12), neural tube defect (8), omphalocele (7), lack of meconium at expected rectal location (7), vertebral anomaly (7), non-visualize bladder (5), distended bladder (5), hydrocolpos (4), dilated or echogenic bowel (3), umbilical cord cyst (3), separated pubic bones (2), and the "elephant trunk" sign (2). The prenatal diagnosis was correct in 10 cases, partially correct in two cases, and it was missed in one case. All parents received prenatal counseling depending on the specific diagnosis. CONCLUSION: The continuous technologic innovations in prenatal imaging make it possible to prenatally diagnose more complex anomalies including cloaca and cloacal exstrophy with increased levels of confidence and enhance the benefit of prenatal counseling. Together, these allow the parents to be better prepared for the condition and the care team to provide the best possible initial management in order to improve the outcomes of these challenging patients.

McKusik Kaufman syndrome.

A 12-years-old male child presented with polydactyly and syndactyly of hands, hypospadias, AND undescended testes. He was a known case of Tetrology of Fallot. One important differential in our case was Bardet-Biedl syndrome, but it was ruled out due to lack of evidence of central obesity, mental retardation and retinitis pigmentosa. At this time, there is no molecular testing available to distinguish these two syndromes.

[Transversal vaginal septum in two months old patient--case report].

The current publication describes a case of a two months old girl with a transverse vaginal septum presented. The clinical debut is with a large hydromucocolpos. It is concomitantly presented with a bilateral postaxial polydactyly of the upper limbs, typical for McKusick-Kaufmann syndrome.

Neonatal hydrocolpos presenting as a rapidly progressive abdominal mass with inferior caval vein syndrome.

A 7-week-old infant was presented at the emergency department with an abdominal mass, unilateral swelling of the groin and suspicion of an inferior caval vein syndrome with bluish discolouration and oedema of the lower extremities. Abdominal imaging showed two large cysts and profound bilateral hydronephrosis. Following laparotomy, an extreme hydrocolpos and an overdistended urinary bladder were found. These findings turned out to be secondary to a transverse vaginal septum. She was treated surgically and was hospitalised for 2 weeks. Long-term follow-up showed normalisation of previously present hypercalciuria and hydronephrosis.A hydro(metro)colpos should be considered in the differential diagnosis of a female infant presenting with an abdominal mass, to apply the appropriate investigations and therapy.

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational analysis of our multiethnic cohort of 83 families (105 cases); 75.9% of them have their mutations identified including 26 novel changes. Comprehensive phenotyping of these patients demonstrate that the spectrum of clinical features is greater than expected and overlapped with the features of other ciliopathies; specifically Alström and McKusick-Kauffman syndromes.