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.

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.

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.

An approach to giant neonatal hydrocolpos with normally sited anus - Diagnosis and management including a novel one stage operation.

INTRODUCTION: Giant non cloacal neonatal hydrocolpos is a rare entity where early recognition of the underlying cause and drainage of the distended vagina is paramount. Conventionally, immediate management has been by abdominal tube vaginostomy or, in urogenital sinus by vaginal clean intermittent catheterisation (CIC). Though effective in providing temporary relief, the abdominal tube vaginostomy is replete with complications, making it imperative to search for alternatives. Here we describe our method of emergent and definitive management of these children, where definitive repair, depending on the aetiology, has been made possible in a single stage. MATERIAL AND METHODS: Seven girls who presented primarily or with history of giant non cloacal neonatal hydrocolpos at two tertiary care centres from January 2013 to March 2021 were studied retrospectively. None had imperforate anus or a bulging hymenal membrane. Four had high vaginal atresia (VA) and three had Urogenital sinus (UGS), one with high confluence. Four girls (2 VA, 2 UGS) presented to us as neonates and were managed by emergency drainage procedures other than tube vaginostomy: CIC in one (low UGS) and a novel abdominoperineal U flap vaginoplasty in three (2 VA, 1 high confluence UGS) which was also the definitive procedure. This procedure involved fashioning an inferiorly based inverted U flap from the posterior wall of distended vagina which is tubularised and flipped down by an abdomino-perineal procedure. The girl with a low UGS later underwent a perineal procedure. Three presented elsewhere as neonates (2 VA, 1 UGS) and had abdominal tube vaginostomy as the emergency drainage procedure. This was complicated by tube dislodgement and pyocolpos till successful reconstruction was performed by us. Successful reconstructions included the abdominoperineal U flap vaginoplasty in one (VA) and a perineal procedure in another (low UGS). One girl with high VA had an inflamed vagina after tube vaginostomy, precluding the U flap vaginoplasty, and underwent abdominal vaginal mobilisation and pull through complicated by partial vaginal necrosis with septic complications. RESULTS: Reconstruction resulted in a patent and a good calibre neo-vagina in all at a mean follow up of 48 months. CONCLUSION: Immediate management of giant non cloacal neonatal hydrocolpos may either be vaginal CIC or a surgical procedure. The abdomino-perineal U flap vaginoplasty is a one stage neonatal procedure that provides effective drainage and forms a definitive neo-vagina. An abdominal tube vaginostomy can be avoided except where neonatal surgical expertise is unavailable.

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.

Rare case of pseudohypoaldosteronism in a neonate secondary to congenital hydrometrocolpos.

Pseudohypoaldosteronism (PHA) due to obstructive uropathy, urinary tract infections and congenital urogenital malformations has been reported in the literature; however, there are no reports of PHA associated with hydrometrocolpos due to a common urogenital tract. Hydrometrocolpos is a condition resulting in distension of the vagina and uterus due to accumulation of secretions (other than blood), caused by increased oestrogenic stimulation and vaginal outflow obstruction. We report on a neonatal case of PHA caused by recurrent hydrometrocolpos presenting with vomiting and poor weight gain. There was significant hyponatraemia, hyperkalaemia, and anaemia requiring medical stabilisation prior to surgery. The mechanism by which PHA occurs in obstruction involves renal tubular dysfunction due to pressure from hydronephrosis and the release of intrarenal cytokines. In addition, there is an immature or resistant renal tubular responsiveness to aldosterone during infancy. Clinicians should be aware of this uncommon but serious presentation.

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.

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.

A Newborn with Rare McKusick Syndrome.

McKusick-Kaufman Syndrome (MKKS) is one of rare syndromes which presents as polydactyly, hydrometrocolpos (HMC) and cardiac anomalies. This autosomal recessive disorder occurs due to mutations in MKKS gene. It is characterised predominantly by genitourinary and digit abnormalities. The diagnosis can be made on clinical findings; however, it is important to rule out Bardet-Biedl syndrome before making the definitive diagnosis. Treatment of MKKS revolves around treatment of its manifestations and complications. We hereby report a case of neonate with features of MKKS.

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.

Síndrome de McKittrick-Wheelock: una causa infrecuente de hipokalemia e injuria renal aguda. Caso clínico / McKrittick-Wheelock syndrome: report of one case

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.

Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome.

A 3-year-old female child presented with a history of recurrent urinary tract infections. On general examination, polydactyly and a pelvic mass were present. An imperforate hymen was also documented on vaginal inspection. Further inquiry revealed a positive history of parental consanguinity. A magnetic resonance imaging study defined a hydrometrocolpos responsible for an obstructive cause of the recurrent urinary tract infections. In view of the above, a diagnosis of McKusick-Kaufman syndrome was made. Formal surgical repair of the imperforate hymen with hydrometrocolpos drainage resulted in complete symptom resolution. McKusick-Kaufman syndrome, its presentation, symptoms, differential diagnosis, and underlying genetics were further expanded.

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

ABSTRACT 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 multidisciplinary 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.

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 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.

Hydrometrocolpos Presenting as a Huge Abdominal Swelling and Obstructive Uropathy in a 4 Day Old Newborn: A Diagnostic Challenge.

BACKGROUND: Abdominal swelling is an uncommon presentation in newborn babies. A combination of huge abdominal swelling, obstructive uropathy and imperforate hymen in newborns has not been reported in the medical literature. CASE DETAILS: We report a 4 days old newborn with a rare presentation of hydrometrocolpos which posed a diagnostic challenge and consequently resulted in delays in diagnosis and treatment. CONCLUSION: Hydrometrocolpos should be considered as a differential diagnosis in neonates who present with huge abdominal swelling.