Changes of calcific density in pediatric patients with testicular microlithiasis

PURPOSE: Testicular microlithiasis (TM) is a relatively rare clinical entity of controversial significance characterized by the existence of hydroxyapatite microliths located in the seminiferous tubules. The aim of this study was to observe the natural course of changes in the calcific density of pediatric TM. MATERIALS AND METHODS: We included a total of 23 TM patients undergoing scrotal ultrasound (US) on at least two occasions from July 1997 to August 2014. We retrospectively analyzed the patient characteristics, clinical manifestations, specific pathological features, and clinical outcomes. We measured the calcified area and compared the calcific density between the initial and final USs. RESULTS: The mean age at diagnosis was 11.3+/-4.6 years, and the follow-up period was 79.1+/-38.8 months (range, 25.4-152.9 months). During the follow-up period, no patients developed testicular cancer. Calcific density on US was increased in the last versus the initial US, but not to a statistically significant degree (3.74%+/-6.0% vs. 3.06%+/-4.38%, respectively, p=0.147). When we defined groups with increased and decreased calcification, we found that diffuse TM was categorized into the increased group to a greater degree than focal TM (10/20 vs. 4/23, respectively, p=0.049). In addition, five of eight cases of cryptorchidism (including two cases of bilateral cryptorchidism) were categorized in the increased calcification group. CONCLUSIONS: Diffuse TM and cryptorchidism tend to increase calcific density. Close observation is therefore recommended for cases of TM combined with cryptorchidism and cases of diffuse TM.

Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype.

Ovotesticular DSD is not an uncommon disorder. The presence of Y chromosome confers a high risk of neoplastic transformation in dysgenetic gonads. The neoplastic development in these patients is associated with the presence of Y chromosome and intra abdominal location of the abnormal gonad. We report histogenetic details of a rare occurrence of bilateral gonadoblastomas and left sided dysgerminoma in a XY ovotestes DSD (disorder of sexual differentiation) in an 18 year old with a female phenotype.

Gonadoblastoma en un hombre anatomicamente normal: informe de un caso y revisión bibliográfica / Gonodoblastoma in an anatomical normal man: case report and bibliography review

El gonadoblastoma es un tumor testicular infrecuente, acompañado generalmente de disgenesia gonadal,. Representa el 0,5 por ciento de todas las neoplasias testiculares. Solo existen 4 casos comunicados en la literatura. Se informa un caso y se realiza una revisión bibliográfica del tema

Gonadoblastoma bilateral en una niña con isocromosoma 46, X, i (Y) (q10) / Bilateral gonadoblastoma in a girl with isochromosome 46, X, i (Y) (q10)

Niño de 6 años derivado por tallo bajo con micrognatia, paladar ojival, cuello alado, aréolas pequeñas y bajas, cúbito valgo, acortamiento del cuarto metacorpiano y escoliosis, que sugerían síndrome de Turner. En su cariotipo se identificó un isocromosoma del brazo largo del cromosoma Y: 46, X, i (Y) (qIO). En la ultrasonografía el útero tenía aspecto prepuberal y los ovarios no se identificaron. Se exploró mediante cirugía extirpando ambas gónadas, debido al riesgo de desarrollar un tumor gonadal dado la presencia de un cromosoma Y. En el examen histopatológico se encontraron esbozos de trompas y características de gonadoblastoma

Uso de sondas de DNA Y-específicas para identificar pacientes com risco de desenvolver gonadoblastoma / Use of Y-specific DNA probe to identify patients with risk for development gonadoblastoma

É bem conhecido o fato de que pacientes fenotipicamente femininas com disgenesia gonadal e material do cromossomo Y no seu genoma apresentam um risco aumentado de desenvolver neoplasia gonadal, especialmente o gonadoblstoma. a alta correlaçåo entre pacientes que desenvolveram tumor de células geminativas e possuíam DNA do cromossomo Y, aproximadamente 90 por cento dos casos, indica que os casos restantes podem apresentar um baixo nível de mosaicismo celular ou ainda rearranjos estruturais do cromossomo Y nåo identificados pelas técnicas citogenéticas convencionais. A determinaçåo precisa do fator que desencadeia o processo oncogênico ainda nåo foi possível. Assumindo-se que o cromossomo Y desempenha um importante papel neste processo, a detecçåo e identificaçåo do DNA deste cromosssomo nestas pacientes com risco de desenvolver gonadoblstoma representa, portanto, um importante passo na profilaxia, uma vez que o risco aumenta com a idade e pode ser eliminado através da gonadectomia. Dezessete pacientes foram analisadas utilizando-se um painel de sondas de DNA Y-específicas, numa tentativa de detectar e caracterizar sequências de DNA derivadas do cromossomo Y

Gonadoblastoma en un paciente con disgenesia gonadal mixta 45, XO/46,XY / Gonadoblastome in a patient with gonadal disgenesia mixed 45, XO/46, XY

Se presenta un caso de Gonadoblastoma en un paciente con Disgenesia Gonadal Mixta, cromatina sexual negativa y cario tipo 45,XO/46,XY, fenotipo femenino. Se hace una revisión sobre este raro tumor gonadal, presentándose algunos alcances clínicos, genéticos y terapéuticos.