Importancia del conocimiento de de la Microlitiasis testicular por el médico general / Important of knowing about testicular microlithiasis for the family physician

Introducción: Conocemos como microlitiasis testicular a la afección en la cual se da la formación de calcificaciones en el interior del testículo. Su etiología es desconocida, y presenta mayor prevalencia en la edad adulta que en la pediátrica. Esta patología muestra su diagnóstico por medio de estudios imagenológicos. Caso clínico: Paciente de 17 años, el cual acude por dolor pélvico de un mes de evolución, y al cual se le diagnostica esta entidad tras los estudios complementarios. En el siguiente estudio se realiza una revisión bibliográfica de los aspectos relevantes de la patología y tratamiento, así como, la relación que existe entra la microlitiasis testicular y la neoplasia de testículo, infertilidad y patologías de base genética, tópicos de sumo interés para el médico general de atención en nivel primario de salud, considerando el manejo de control y prevención que debe aplicarse día a día en la consulta médica. Conclusiones: El conocimiento de las complicaciones que podrían presentarse en el paciente portador de microlitiasis testicular, obligan al médico a mostrar una actitud prudente ante esta patología, considerando el aspecto preventivo de la atención primaria de salud(AU)

Introducción: Conocemos como microlitiasis testicular a la afección en la cual se da la formación de calcificaciones en el interior del testículo. Su etiología es desconocida, y presenta mayor prevalencia en la edad adulta que en la pediátrica. Esta patología muestra su diagnóstico por medio de estudios imagenológicos.m Caso clínico: Paciente de 17 años, el cual acude por dolor pélvico de un mes de evolución, y al cual se le diagnostica esta entidad tras los estudios complementarios. En el siguiente estudio se realiza una revisión bibliográfica de los aspectos relevantes de la patología y tratamiento, así como, la relación que existe entra la microlitiasis testicular y la neoplasia de testículo, infertilidad y patologías de base genética, tópicos de sumo interés para el médico general de atención en nivel primario de salud, considerando el manejo de control y prevención que debe aplicarse día a día en la consulta médica. Conclusiones: El conocimiento de las complicaciones que podrían presentarse en el paciente portador de microlitiasis testicular, obligan al médico a mostrar una actitud prudente ante esta patología, considerando el aspecto preventivo de la atención primaria de salud(AU)

Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita (AHC) is a rare disorder that usually presents clinically as adrenal insufficiency in early infancy. It is caused by mutations in the NR0B1 gene which is located on the short arm of chromosome X (Xp21). The NR0B1 gene plays an important role in normal development and function of both the adrenal and gonadal axes and some patients with the disease can present in adolescence with hypogonadotropic hypogonadism. Testicular microlithiasis is an ultrasonographic finding of unknown etiology that has been associated with several benign conditions such as cryptorchidism, congenital adrenal hyperplasia, varicoceles, and testicular malignancy. We report the case of an 11-year-old boy who was diagnosed at the age of 8 months with X-linked AHC due to adrenal failure and presented testicular microlithiasis during follow-up. To the best of our knowledge, this is the first case of an X-linked AHC patient diagnosed with testicular microlithiasis in follow-up.

Genes associated with testicular germ cell tumors and testicular dysgenesis in patients with testicular microlithiasis / 亚洲男科学杂志(英文版)

Testicular microlithiasis (TM) is one of the symptoms of testicular dysgenesis syndrome (TDS). TM is particularly interesting as an informative marker of testicular germ cell tumors (TGCTs). KIT ligand gene (KITLG), BCL2 antagonist/killer 1 (BAK1), and sprouty RTK signaling antagonist 4 (SPRY4) genes are associated with a high risk of TGCTs, whereas bone morphogenetic protein 7 gene (BMP7), transforming growth factor beta receptor 3 gene (TGFBR3), and homeobox D cluster genes (HOXD) are related to TDS. Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, we investigated allele and genotype frequencies for KITLG (rs995030, rs1508595), SPRY4 (rs4624820, rs6897876), BAK1 (rs210138), BMP7 (rs388286), TGFBR3 (rs12082710), and HOXD (rs17198432) in 142 TGCT patients, 137 TM patients, and 153 fertile men (control group). We found significant differences in the KITLG GG-rs995030 genotype in TM (P = 0.01) and TGCT patients (P = 0.0005) compared with the control. We also revealed strong associations between KITLG-rs1508595 and TM (G allele, P = 0.003; GG genotype, P = 0.01) and between KITLG-rs1508595 and TGCTs (G allele, P = 0.0001; GG genotype, P = 0.0007). Moreover, there was a significant difference in BMP7-rs388286 between the TGCT group and the control (T allele, P = 0.00004; TT genotype, P = 0.00006) and between the TM group and the control (T allele, P = 0.04). HOXD also demonstrated a strong association with TGCTs (rs17198432 A allele, P = 0.0001; AA genotype, P = 0.001). Furthermore, significant differences were found between the TGCT group and the control in the BAK1-rs210138 G allele (P = 0.03) and the GG genotype (P = 0.01). KITLG and BMP7 genes, associated with the development of TGCTs, may also be related to TM. In summary, the KITLG GG-rs995030, GG-rs1508595, BMP7 TT-rs388286, HOXD AA-rs17198432, and BAK1 GG-rs210138 genotypes were associated with a high risk of TGCT development.

Advances in the studies of testicular microlithiasis / 中华男科学杂志

With the increased attention to men's health and development of ultrasound imaging technology, clinicians are achieving a better understanding of testicular microlithiasis. This review presents an overview on recent studies of the etiology, pathogenesis, and imaging characteristics of testicular microlithiasis, its impact on male reproductive function, and its relation ship with testis tumors and other related diseases, as well as its treatment strategies and follow-up proposals, aiming to provide some new evidence for further understanding and management of the disease.

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.

Testis tumor associated to microlithiasis / Tumor de testiculo asociado a la microlitiasis / Tumor de testiculo associado a microlitiase

OBJECTIVE: To discuss the relationship between testicular microlithiasis and testis tumors in children and to consider the chances of testis preserving surgery in specific cases. CASE DESCRIPTION: Pre-adolescent presenting testicular microlithiasis and a larger left testis, corresponding to a cystic testicular tumor. The tumor was excised, with ipsilateral testis preservation. Histology diagnosed a testis dermoid tumor. COMMENTS: The relationship between testis tumors and testicular microlithiasis is ill defined in children. Pediatric urologists need to develop specific follow-up protocols for pre-pubertal children. .

OBJETIVO: Discutir las implicaciones de la microlitíasis testicular en el niño con relación al riesgo oncológico implicado y la posibilidad de cirugía de preservación testicular en casos elegidos. DESCRIPCIÓN DEL CASO: Pre-adolescente presentando aumento microlitíasis testicular y aumento del testículo izquierdo, con lesión tumoral quística. La lesión fue resecada, con preservación del testículo y diagnóstico histológico de tumor dermatoide testicular. COMENTARIOS: La relación entre tumores de testículo y microlitíasis testicular es mal definida en niños y hay la necesidad de desarrollar protocolos de seguimiento específicos para esa franja de edad. .

OBJETIVO: Discutir as implicações da microlitíase testicular na criança com relação ao risco oncológico envolvido e a possibilidade de cirurgia de preservação testicular em casos escolhidos. DESCRIÇÃO DO CASO: Pré-adolescente apresentava microlitíase testicular e aumento do testículo esquerdo, correspondendo a tumor testicular cístico. Ressecou-se o tumor, com preservação do testículo. O diagnóstico histológico foi de tumor dermoide testicular. COMENTÁRIOS: A relação entre tumores de testículo e microlitíase testicular é mal definida em crianças e há a necessidade de desenvolver protocolos de seguimento específicos para essa faixa etária. .

Testicular microlithiasis: ultrasonic diagnostic value and its clinical significance / 医学研究生学报

Objectives:To study the ultrasonogram, diagnosis and significance of testicular microlithiasis (TM). Methods:The clinical data and ultrasonographic outcomes of 97 patients with the genital system diseases were retrospectively analyzed. Results:Five patients with TM were found, and the prevalence of TM is 5.2%. of 5 cases, 2 cases were associated with infertility, 1 cases with orchitis,1 case with seminoma, and 1 case with mature teratoma. Three cases with varicocele,2 cases with atrophic testis, 1 case with hydrocele and 1 case with spermatocele, were found out with the use of a high frequency transducer. The sonographic appearance of TM is multiple tiny(1-3 mm),no acoustic shadowing hyperechoic foci that are randomly scattered throughout the testicular parenchyma. Conclusions:Testicular microlithiasis has been associated with a variety of clinical entities, and it is an uncommon condition in which calcified concretions fill the lumen of seminiferous tubule, commonly diagnosed by high frequency (5～10 MHz ) testicular ultrasound. The accepted standard of TM is multiple small nonshadowing hyperechoic foci up to 3 mm in size, with five or more evident on a single sonogram.

Fifteen Cases of Testicular Microlithiasis / 대한비뇨기과학회지

PURPOSE: This study was made to evaluate the clinical characteristics of testicular microlithiasis which shows small diffuse hyperechoic nonshadowing foci throughout both testes on sonography. MATERIALS AND METHODS: Between July 1995 and May 1997, we had seen 15 Patients with dilateral diffuse microlithiasis of the testes on the sonography. Medical records were reviewed with respect to age at presentation, associated diseases, and sonographic and pathologic characteristics. RESULTS: The age of the patients ranged from 8 to 69 years. The testicular microlithiasis was coincidental to the presence of erectile dysfunction(n=5), epididymitis(n=5), varicocele(n=4), epididymal cyst(n=2), infertility(n=1), testicular teratoma(n=1) and diabetes mellitus(n=1). There were considerable variations in the numbers of echogenic foci on each sonography that examined the entire half of the scrotum(from 15 to more than 60 foci). The histological examinations were done in two patients and sbowed the lumina of seminiferous tubules filled with concentrically lamellated calcified concretions. CONCLUSIONS: The testicular microlithiasis showed a wide range of age at presentation and associated with diabetes mellitus and a variety of urological problems including erectile dysfunction, epididymitis, varicoce18, epididymal cyst, infertility and testicular teratoma. The clinical relevance remains unclear at this time. Further additional cases as well as a long-term follow-up would be necessary to assess the association between testicular microlithiasis and these coincidental conditions.