RESUMEN
BACKGROUND: The persistent müllerian duct syndrome (PMDS) is characterized by the persistence of the uterus and Fallopian tubes in otherwise normally virilized boys. Its diagnosis is usually made during a surgical procedure for inguinal hernia or cryptorchidism. We report six recent cases of PMDS, in which we have studied anti-Müllerian hormone (AMH) serum levels. CASE REPORTS AND METHODS: Six boys including three brothers were operated on for cryptorchidism or inguinal hernia. Surgical exploration showed persistence of the uterus and Fallopian tubes in patients having normal 46, XY karyotype and male gonads. The AMH serum levels were measured by Elisa and the AMH gene by single strand conformation polymorphism of PCR products. RESULTS: The three brothers showed a mutation in the AMH gene which leads to the replacement of leucine by proline at position 70 and to a defect in AMH production. In two other patients, serum AMH values were normal, no mutation on the AMH gene was found, and end-organ insensitivity was suggested to explain the persistence of müllerian derivatives. In the last patient, although AMH serum levels were very low due to a progressive degeneration of testicular tissue, molecular analysis of the AMH gene suggested that end-organ resistance might be the cause of the persistence of müllerian ducts. CONCLUSION: PMDS is not extremely rare. Many diagnostic mistakes are made which could be prevented by performing pelvic or inguinal ultrasonography before surgical treatment of bilateral cryptorchidism or irreducible inguinal hernia. Prognosis depends upon the integrity of the testicular tissue, sometimes compromised for yet unexplained reasons, and upon the successful correction of cryptorchidism, which is complicated by the close anatomical relationship between the vasa deferentia and the Müllerian derivatives.
Asunto(s)
Glicoproteínas , Inhibidores de Crecimiento/sangre , Conductos Paramesonéfricos/patología , Hormonas Testiculares/sangre , Adolescente , Hormona Antimülleriana , Niño , Criptorquidismo/cirugía , Inhibidores de Crecimiento/genética , Hernia Inguinal/cirugía , Humanos , Lactante , Masculino , Conductos Paramesonéfricos/diagnóstico por imagen , Reacción en Cadena de la Polimerasa , Síndrome , Hormonas Testiculares/genética , UltrasonografíaRESUMEN
The authors report the first case of fetus in fetu situated in the adrenal gland where the diagnosis was suggested by prenatal ultrasound. The anatomo-pathology, the aetiology, the antenatal ultrasound picture and the treatment of this abnormality of embryonic development are described.
Asunto(s)
Neoplasias de las Glándulas Suprarrenales/diagnóstico , Feto/anomalías , Teratoma/diagnóstico , Ultrasonografía Prenatal , Adulto , Diagnóstico Diferencial , Femenino , Feto/patología , Humanos , Embarazo , PronósticoRESUMEN
The authors present the results of a survey conducted among French paediatric urologists belonging to the Groupe d'Etudes en Urologie Pédiatrique (GEUP) (Paediatric Urology Study Group). This study, based on 122 cases observed in 13 centres, is not exhaustive, but is nevertheless statistically significant. The preoperative assessment confirms the usual findings of urinary stones in children: pyelonephritis, haematuria and abdominal pain, the usual presenting complaint, concomitant malformative uropathy (10% of cases) and a predominance of calcium stones. More than 200 stones were treated, larger than 10 millimeters in diameter in one-third of cases. Renal stones, mainly caliceal (more than 50%), included 11 staghorn calculi. This study also included 22 ureteric stones, mainly in the pelvic ureter, and 2 bladder stones. Lithotripsy was ultrasound-guided in 2/3 of cases and required general anaesthesia in about 3/4 of cases. Ureteric catheterization was required in 19 infants preoperatively, but in only 2 infants (stein strasse) postoperatively. One or two lithotripsy sessions were sufficient in most cases, but 4 sessions were necessary in 5 patients, to the same kidney in 1 case. The mean hospital stay was 2 to 3 days, but the procedure was performed on an outpatient basis in 15 cases. The immediate postoperative course was uneventful and asymptomatic. This survey revealed about 10% of complete failures, corresponding to solitary caliceal stones in 2/3 of cases; 29 partial failures were essentially due to lower caliceal stones and staghorn calculi; 84 successes (stone-free), mainly pelvic or simple caliceal stones. Scintigraphy did not reveal any immediate postoperative impairment of renal function. This study reported a success rate of about 70%, regardless of the type of apparatus used. Assessment of the results of ESWL requires sufficient follow-up both concerning the outcome of fragmented stones and evaluation of possible functional repercussions. This survey defines the main indications: although ESWL can be applied to most stones, some stones constitute poor indications (cystine stones, stenotic malformative uropathy) or dubious indications: small lower caliceal stones, densely calcified staghorn calculi in older children. This study confirmed the efficacy and low morbidity of ESWL in children. A prospective study needs to be conducted according to a rigorous protocol in order to refine the technique and indications while reducing the possible long-term risks.
Asunto(s)
Litotricia/métodos , Cálculos Urinarios/terapia , Dolor Abdominal/etiología , Adolescente , Niño , Preescolar , Femenino , Francia , Hematuria/etiología , Humanos , Lactante , Tiempo de Internación/estadística & datos numéricos , Masculino , Selección de Paciente , Cuidados Posoperatorios , Cuidados Preoperatorios , Pielonefritis/etiología , Resultado del Tratamiento , Cálculos Urinarios/complicaciones , Cálculos Urinarios/diagnóstico , Cateterismo UrinarioRESUMEN
The authors describe an original technique of hypospadias drainage with the combined advantages of balloon catheter and simple stent without the disadvantages of these modes of drainage.
Asunto(s)
Drenaje/instrumentación , Hipospadias/cirugía , Diseño de Equipo , Humanos , MasculinoRESUMEN
Extracorporeal shock-wave lithotripsy (ESWL) constitutes the reference treatment for renal and ureteric stones in adults, but its use and development in children have been accompanied by a certain degree of caution and reticence. A large number of paediatric series have been published since 1986, confirming the efficacy and minimally invasive nature of this technique. Modification of the nature of the shock waves and release onto the market of second and third generation apparatuses have simplified the management of urinary stones in children. However, several questions persist concerning the maximum number of impacts, the recommended interval between two sessions and the long-term effects of shock waves on the growing renal parenchyma. The objective of this study was to review the current state of ESWL in children based on a review of the literature, the GEUP report and our own experience.
Asunto(s)
Litotricia , Cálculos Urinarios/terapia , Adolescente , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Lactante , Litotricia/efectos adversos , Litotricia/instrumentación , Masculino , Cálculos Urinarios/diagnóstico , Cálculos Urinarios/epidemiologíaAsunto(s)
Adolescente , Adulto , Albuminuria , Niño , Preescolar , Cistoscopía , Enuresis , Femenino , Hematuria , Humanos , Lactante , Recién Nacido , Embarazo , Obstrucción Ureteral/diagnóstico , Cálculos Urinarios , UrografíaAsunto(s)
Neoplasias Abdominales , Neoplasias Abdominales/diagnóstico , Neoplasias Abdominales/diagnóstico por imagen , Neoplasias Abdominales/epidemiología , Adolescente , Niño , Preescolar , Humanos , Lactante , Recién Nacido , Radiografía , Cintigrafía , Neoplasias Retroperitoneales/diagnóstico , Estadística como AsuntoRESUMEN
The authors report an unusual case of newborn obstruction by Meckel's diverticulum. Symptoms were repeated vomiting and a rounded mass was palpated in right lower quadrant. This mass looked like a fecalith on X Rays which also showed dilated gas filled loops of intestine. A barium enema showed no trouble of rotation, a good filling of last loops of small bowel, then a large kind of pocket, filled from the bowel. Operation discovered a huge (6 x 5 cm) Meckel's diverticulum compressing small intestine and pushing the cecum towards the upper quadrant. Treatment was ileal resection followed by end to end anastomosis. A very few newborn obstructions by Meckel's diverticulum were published; mechanisms are intussusception, volvulus, herniation. No similar case as reported was found in literature.
Asunto(s)
Enfermedades del Íleon/etiología , Obstrucción Intestinal/etiología , Divertículo Ileal/complicaciones , Factores de Edad , Humanos , Enfermedades del Íleon/diagnóstico por imagen , Enfermedades del Íleon/cirugía , Recién Nacido , Obstrucción Intestinal/diagnóstico por imagen , Obstrucción Intestinal/cirugía , Masculino , RadiografíaRESUMEN
The authors report one case of a supernumerary liver lobe contained in the omphalocele of a new born. An accessory hepatic lobe was attached to the liver by a pedicle. Its histological structure was that of an immature liver. The authors review the different symptoms, varieties, and frequencies of supernumerary liver lobes. The importance of this embryological anomaly is underlined as it is normally latent and benign. It should be evoked whenever a radiological or palpable abdominal mass is discovered and in those cases where there are complications of unknown etiology.
Asunto(s)
Hernia Umbilical/complicaciones , Hígado/anomalías , Hernia Umbilical/cirugía , Humanos , Recién Nacido , Hígado/patología , Hígado/cirugía , MasculinoRESUMEN
Benign cystic testicular tumors are very uncommon in childhood. These tumors can be dysplasic or teratomatous forming two peculiar groups. First electively affect the rete testis cells realizing simple cysts or multicystic dysplasia. The authors report one case of simple cyst in a four months old boy and analyse the eight observations of the literature of similar localisation and histologic structure. Dysplasic cysts are always surrounded by cuboidal or flatted epithelium and their contain is a clear liquid. The cystic dilatation of the rete testis would be consecutive to a defect of junction between the two different embryologic formations of the testicle and its excretor system. The primitive perturbation would affect the mesonephrotic formations sometimes partial cause of simple cysts, elsewhere more extensive responsible of the multicystic dysplasia associated in maximum cases with urinary system malformations. Liquid of the cysts would be the consequence of a very early accentuation of the rete cells secretion. In a second part, the different sorts of benign cystic teratomas are exposed, in order: epidermoid cysts, dermoid cysts and benign mature teratomas. For each of them are related their histologic structure and the frequency in consideration of literature analysis. These teratomatous cystic tumors would be results of a same tumoral process of increasing differentiation. They are benign under condition to be perfectly pure, examination of the whole piece is mandatory. All these benign tumors are commonly revealed by a large isolated testicle, the echography and negative biological evaluation (alpha foetoprotein, gonadotrophin hormones) may lead to suspect the type of tumor but histology only makes the diagnosis.(ABSTRACT TRUNCATED AT 250 WORDS)
Asunto(s)
Neoplasias Testiculares/patología , Quiste Dermoide/patología , Quiste Epidérmico/patología , Humanos , Lactante , Masculino , Teratoma/patología , Neoplasias Testiculares/etiologíaRESUMEN
The authors presents 2 observations of testicular autotransplantation at 11 and 13 years age; the 2 boys had bilateral cryptorchism. Analysis of the literature allows good conclusions for the liability of this technique with less than 20% of secondary atrophies. Particularly interesting to note 2 successful operation on children 2 years old. The indications are limited, mainly discussed is bilateral abdominal cryptorchism (mostly Prune Belly Syndrome). The autotransplantation is reserved for the normal appearance testicles with good hormonal function. The operation is preferable using inguino-iliac extra-peritoneal pass; that exploration is very important and at last only in 20% of abdominal cryptorchism could autotransplantation be considered. The malignancy transformation risk is poor if break down is done before 10 years old, however a regular and very long follow-up is necessary: Clinic, vascular, biopsies sometimes at a little doubt. Preservation of hormonal function and fertility hope represent the expected advantages; spermatic analysis are still absent because the too recent autotransplantation. As for usual testicular ectopies for sure it would be preferable to do early autotransplantation, just after 2 years of age, if this is possible.
Asunto(s)
Criptorquidismo/cirugía , Testículo/trasplante , Trasplante Autólogo/métodos , Adolescente , Niño , Humanos , Masculino , Microcirugia/métodosRESUMEN
Reporting two cases of simple testicular cysts in children, the authors analyse these rare benign tumors (9 other cases in literature). The cystic dilatation first affect the rete testis, it can be partial (simple cyst) or extensive (multicystic dysplasia). The primitive perturbation would affect the mesonephrotic formations, with a defect of junction between the two different embryologic formations of the testicle and its excretor system. These tumors are revealed by a large isolated testicle, histology only makes the diagnosis. Despite their benignity, simple orchidectomy is the save treatment; enucleation is justified only when the opposite testicle is also injured.
Asunto(s)
Quistes , Enfermedades Testiculares , Quistes/patología , Quistes/cirugía , Humanos , Lactante , Masculino , Orquiectomía , Enfermedades Testiculares/patología , Enfermedades Testiculares/cirugía , Testículo/embriologíaRESUMEN
The association of a diaphragmatic hernia and a pulmonary sequestration is known, though very rare. The authors present one singular observation because it were involved in aplasia of the homolateral pillar and a digestive duplication. They insist about the gravity of the reflux inherent to the malformation; they suggest its differed cure in spite of nutritional difficulties. Pathogenic considerations are advanced on that malformative complexe which is combined with the broncho-pulmonaries malformations of the foregut. It seems a direct proof of the theory of "the accessory lung". Finally, is underlined the gravity of the aplasia of the diaphragmatic leaf extensive to the pillar.