Prevalence and risk factors of testicular microlithiasis in patients with hypospadias: a retrospective study

Nakamura, Michiko; Moriya, Kyoji; Nishimura, Yoko; Nishida, Mutsumi; Kudo, Yusuke; Kanno, Yukiko; Kitta, Takeya; Kon, Masafumi; Shinohara, Nobuo

doi:10.1186/s12887-018-1151-6

Cited by 9 publications

(16 citation statements)

References 32 publications

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“…Nakamura et al reported that a risk factor for testicular microlithiasis in patients with HS was concomitant UDT [26], which was also found to be a risk factor for high serum FSH in the current study. They found that the incidence of TM in patients with and without UDT was 43.8% and 9.5%, respectively, which was similar with the incidence of high serum FSH in those with and without UDT (58.3% or 7.5%, respectively) in the present study.…”

Section: Discussionsupporting

confidence: 74%

Risk factors affecting post-pubertal high serum follicle-stimulating hormone in patients with hypospadias

et al. 2019

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Purpose The factors affecting spermatogenesis in adulthood in patients with hypospadias (HS) are not clearly understood. In the present study, risk factors affecting post-pubertal high serum follicle-stimulating hormone (FSH) were evaluated in patients with HS.Materials and methodsAmong those with a history of HS surgery, patients in whom endocrinological evaluation regarding pituitary–gonadal axis was performed at 15 years of age or older between March 2004 and April 2018 were enrolled in the present study. High serum FSH was defined as greater than 10 mIU/ml. The severity of HS was divided into mild and severe. Factors affecting the post-pubertal high serum FSH were estimated.ResultsSeventy-nine patients were included in the present study. The severity of HS was mild in 35 and severe in 44. History of undescended testis (UDT) was confirmed in 12. High serum FSH was detected in nine. On logistic regression model analysis, a history of UDT was the only significant factor for high serum FSH. The incidence of high serum FSH in patients with UDT was significantly higher than that in those without UDT (58.3% vs 7.5%, p < 0.01). When stratified by severity of HS and the presence of UDT, high serum FSH was detected in 70% in patients with severe HS and UDT, whereas less than 10% in other groups.ConclusionsA history of UDT was a significant factor for post-pubertal high serum FSH in patients with HS. Accordingly, the presence of UDT may be a marker for impaired spermatogenesis in patients with HS, especially in severe cases.

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Section: Discussionsupporting

confidence: 74%

Risk factors affecting post-pubertal high serum follicle-stimulating hormone in patients with hypospadias

et al. 2019

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“…An ultrasound examination of his testes revealed mild-to-moderate reduction in size (right: 3.0 × 1.1 cm; left: 2.9 × 1.3 cm) and volume (right: 7.6 mL; left: 8.4 mL) with bilateral segmental testicular microlithiasis ( Fig. 1D ), which may be indicative of degeneration of the testicular parenchyma [ 21 ]. While he claimed to have a normal libido as well as sexual function, semen analysis revealed oligospermia with a decreased mobility rate ( Table 1 ).…”

Section: Resultsmentioning

confidence: 99%

Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism

Kezuka

Obara

Kato

et al. 2020

Journal of the Endocrine Society

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Objective X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism (HHG) caused by mutations of the NR0B1/DAX1 gene. We aimed to search for the presence of any NR0B1/DAX1 gene mutations in a referred patient and to further characterize the phenotypes of the identified mutation. Case presentation Herein, we report a Japanese patient with a novel missense mutation of the NR0B1/DAX1 gene resulting in adult-onset AHC and HHG. The patient was referred with diffuse skin pigmentation at 28 years of age, presented partial adrenal insufficiency and had undiagnosed incomplete HHG. Urological examination revealed severe oligospermia and testicular microlithiasis. Results The NR0B1/DAX1 gene mutation was identified by exome sequencing as a novel missense mutation (c.884A>T, p.Leu295His). We conducted in silico modeling of this mutant NR0B1/DAX1 protein (p.Leu295His) which affected the conserved hydrophobic core of the putative ligand binding domain (LBD). In addition, functional analysis revealed that this mutant showed a decreased ability as a transcriptional repressor to suppress target genes, such as STAR and LHB. Furthermore, this mutant showed functionally impaired repression of steroidogenesis in human adrenocortical H295R cells. Conclusions We identified a novel missense mutation of the NR0B1/DAX1 gene in a patient suffering from late-onset AHC and HHG, who presented with oligospermia and testicular microlithiasis. This mutant NR0B1/DAX1 protein was found to have reduced repressor activity, according to in vitro studies, clinically consistent with the patient’s phenotypic features.

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“…(1) También existe una clara correlación entre la MT y la infertilidad, siendo la obstrucción por los cálculos en los túbulos seminíferos el factor clave que causa la infertilidad al ocasionar una inflamación secundaria y aumentar la presión intraseminifera, afectando el suministro de sangre a los testículos. (6) La MT está formada por depósitos intratubulares que consisten en núcleos centrales calcificados rodeados por múltiples capas concéntricas de residuos celulares, glicoproteína y colágeno dentro de los túbulos seminíferos. Sin embargo, los posibles mecanismos fisiopatológicos que conducen a la formación de núcleos centrales calcificados de MT aún no se conocen completamente.…”

Section: Discussionunclassified

“…Recientemente, se ha demostrado que organismos similares a las bacterias de tamaño nanométrico (nanobacterias) participan en el proceso de calcificaciones patológicas que se detectaron en muestras de semen de pacientes con MT y pueden causar también quistes en el epidídimo. (2,6,(10)(11)(12)(13) La terminología "nanobacterias" (NB) se refiere a organismos similares a bacterias de tamaño nanométrico, descubriéndose por primera vez en un cultivo celular y nombrada por Kajander y Cifcioglu. (11) Se autoreplican y tienen un tamaño de 0.1 a 0.5 μm.…”

Section: Discussionunclassified

“…(2)(3)(4)(5) Es una condición patológica rara que generalmente se descubre de manera incidental durante la evaluación de ultrasonido testicular realizada por otras condiciones, como la infertilidad. (6)(7)(8)(9) El ultrasonido es el método de elección para diagnosticar esta patología, que puede verse como pequeños ecos brillantes sin sombras acústicas dispersas en todo el parénquima testicular. (2,8,9) El objetivo del presente trabajo es hacer una revisión de los casos reportados por ultrasonido de microlitiasis testicular y hacer una revisión de la literatura.…”

Section: Antecedentesunclassified

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Microlitiasis testicular una patología rara y poco conocida. Reporte de casos y revisión de literatura

Galván-Montaño

Cruces-Velázquez

García-Moreno

et al. 2021

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Objetivo: El objetivo del presente trabajo es hacer una revisión de los casos reportados por ultrasonido de microlitiasis testicular y hacer una revisión de la literatura. Diseño: Se realizó una revisión de los ultrasonidos testiculares en los que se reportó microlitiasis testicular en el periodo comprendido del 2011 a 2018 en el Hospital “Dr. Manuel Gea González”, las variables que se analizaron fueron: edad, motivo del estudio, lado afectado y otros hallazgos. Resultados: Fueron 21 ultrasonidos con microlitiasis testicular con rango de edad de 6 a 24 años con promedio de 16 años. En el 81% afecto a ambos testículos, y en el 29% afecto el lado izquierdo. En el motivo del estudio el dolor testicular se encontró en el 33 % (7 casos), 14 % por tumor testicular (3 casos), torsión testicular 10% (2 casos), otras causas fueron varicocele, absceso y trauma testiculares. Limitaciones del estudio: Al tratarse de un estudio observacional retrospectivo, las conclusiones obtenidas son relativas. Originalidad: La microlitiasis tiene una prevalencia informada entre el 2.4% y el 3.8% en niños, se asocia a neoplasias testiculares y puede causar infertilidad. Se considera como posible etiología algunas nanobacterias que inducen las calcificaciones testiculares por lo tanto el estudio de esta patología podría modificar su tratamiento y prevenir su aparición. Conclusiones: La microlitiasis testicular es una patología rara y poco conocida que puede estar asociada a cáncer e infertilidad y al parecer su etiología puede ser infecciosa ocasionada por nanobacterias. Es una patología abierta a la investigación.

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Prevalence and risk factors of testicular microlithiasis in patients with hypospadias: a retrospective study

Cited by 9 publications

References 32 publications

Risk factors affecting post-pubertal high serum follicle-stimulating hormone in patients with hypospadias

Risk factors affecting post-pubertal high serum follicle-stimulating hormone in patients with hypospadias

Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism

Microlitiasis testicular una patología rara y poco conocida. Reporte de casos y revisión de literatura

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