RESUMEN
The risk of suffering from gonadal germ cell tumors (GCT) is increased in some patients with different sexual development (DSD), mainly in those with Y chromosome material. This risk, however, varies considerably depending on a multitude of factors that make the decision for prophylactic gonadectomy extremely difficult. In order to make informed recommendations on the convenience of this procedure in cases where there is potential for malignancy, this consensus guide evaluates the latest clinical evidence, which is generally low, and updates the existing knowledge in this field.
Asunto(s)
Neoplasias de Células Germinales y Embrionarias , Desarrollo Sexual , Humanos , Consenso , Neoplasias de Células Germinales y Embrionarias/cirugía , CastraciónRESUMEN
Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy. A distinctive characteristic of KS is oligozoospermia. Despite multiple studies that have described the natural history of the degenerative process of germ cells in patients with KS, the molecular mechanisms that initiate this process are not well characterized. MicroRNA (miRNA)-mediated post-transcriptional control mechanisms have been increasingly recognized as important regulators of spermatogenesis; however, only a few studies have evaluated the role of miRNAs in the gonadal failure of these patients. Here, we describe a differential expression profile for the miRNAs in testicular tissue samples taken from KS patients. We analysed testicular tissue samples from 4 KS patients and 5 control patients (obstructive azoospermia) through next-generation sequencing, which can provide information about the mechanisms involved in the degeneration of germ cells. A distinctive differential expression profile was identified for 166 miRNAs in the KS patients: 66 were upregulated, and 100 were downregulated. An interactome analysis was performed for 7 of the upregulated and the 20 downregulated miRNAs. The results showed that the target genes are involved in the development, proliferation, and differentiation processes of spermatogenesis, which may explain their role in the development of infertility. This is the first report of a miRNA expression profile generated from testicular tissue samples of KS patients.
Asunto(s)
Azoospermia/genética , Síndrome de Klinefelter/genética , MicroARNs/genética , Espermatogénesis/genética , Adulto , Azoospermia/patología , Regulación del Desarrollo de la Expresión Génica/genética , Células Germinativas/metabolismo , Células Germinativas/patología , Humanos , Síndrome de Klinefelter/patología , Masculino , Recuperación de la Esperma , Testículo/crecimiento & desarrollo , Testículo/metabolismoRESUMEN
The volume of ubiquitous chemicals with estrogenic properties is on the rise and some reports relate the increase in hormonal diseases to these compounds. A morphological and immunohistochemical analysis has been performed on 42 bilateral orchiectomy specimens from adult individuals who underwent gender reassignment surgery after receiving crossed-sex hormone therapy to give insight into vascular, inflammatory and epididymal changes following long-term treatment with estrogens and antiandrogens and raise awareness of the consequences of hormone therapy. The present study confirms previously reported findings in testicular parenchyma and epididymis, such as identification of three histological patterns according to lesion severity and cell dedifferentiation, and reports for the first time vascular and inflammatory lesions (atherosclerosis and vasculitis), both on testicle and epididymis. Cross-sex hormone therapy should be provided in specialized units in order to systematize treatments and ensure adequate follow-up.
Asunto(s)
Antagonistas de Andrógenos/efectos adversos , Epidídimo/efectos de los fármacos , Estrógenos/efectos adversos , Testículo/efectos de los fármacos , Adulto , Aterosclerosis/inducido químicamente , Aterosclerosis/patología , Epidídimo/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Cirugía de Reasignación de Sexo , Testículo/patología , Personas Transgénero , Vasculitis/inducido químicamente , Vasculitis/patología , Adulto JovenRESUMEN
IGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macroorchidism. However, the pathogenic mechanisms of the disease remain unclear. Based on a patient with a full deletion of IGSF1 clinically followed from neonate to adulthood, we investigated a common pituitary origin for hypothyroidism and macroorchidism, and the role of IGSF1 as regulator of pituitary hormone secretion. The patient showed congenital central hypothyroidism with reduced TSH biopotency, over-secretion of FSH at neonatal minipuberty and macroorchidism from 3 years of age. His markedly elevated inhibin B was unable to inhibit FSH secretion, indicating a status of pituitary inhibin B resistance. We show here that IGSF1 is expressed both in thyrotropes and gonadotropes of the pituitary and in Leydig and germ cells in the testes, but at very low levels in Sertoli cells. Furthermore, IGSF1 stimulates transcription of the thyrotropin-releasing hormone receptor (TRHR) by negative modulation of the TGFß1-Smad signaling pathway, and enhances the synthesis and biopotency of TSH, the hormone secreted by thyrotropes. By contrast, IGSF1 strongly down-regulates the activin-Smad pathway, leading to reduced expression of FSHB, the hormone secreted by gonadotropes. In conclusion, two relevant molecular mechanisms linked to central hypothyroidism and macroorchidism in IGSF1 deficiency are identified, revealing IGSF1 as an important regulator of TGFß/Activin pathways in the pituitary.
Asunto(s)
Activinas/metabolismo , Hormona Folículo Estimulante de Subunidad beta/metabolismo , Hipotiroidismo/patología , Inmunoglobulinas/genética , Proteínas de la Membrana/genética , Receptores de Hormona Liberadora de Tirotropina/metabolismo , Factor de Crecimiento Transformador beta/metabolismo , Animales , Análisis Mutacional de ADN , Hormona Folículo Estimulante de Subunidad beta/genética , Estudios de Seguimiento , Eliminación de Gen , Humanos , Hipotiroidismo/genética , Recién Nacido , Masculino , Ratones , Hipófisis/metabolismo , Hipófisis/patología , Regiones Promotoras Genéticas , Ratas , Ratas Wistar , Receptores de Hormona Liberadora de Tirotropina/genética , Proteínas Smad/metabolismo , Testículo/metabolismo , Testículo/patologíaRESUMEN
Testicular tumors in the prepubertal age are relatively rare, representing only 9.4% of the total testicular and paratesticular specimens from a 20-year review performed at a large pediatric hospital [ 1 ]. They account for 1% to 2% of all solid tumors in the pediatric age group, with an annual incidence between 0.5/100 000 and 2/100 000 boys according to Coppes et al [ 2 ] and data from the Prepubertal Testicular Tumor Registry [ 3 ]. Similar to other neoplasms afflicting children, a bimodal age distribution is observed. The first peak is between birth and 3 years of age, and a second one occurs at the onset of puberty, extending to the fourth decade. Reports on their frequency vary because some investigators include the adolescent period, while others do not [ 4 ]. The vast majority of testicular tumors are germ cell neoplasms, accounting for 95% across all ages [ 5 ]. In children, germ cell tumors also predominate, representing 71% of all testicular neoplasms. These include yolk sac tumors (49%), teratomas (13%), seminomas and mixed germ cell tumors (9%), and sex-cord stromal tumors (29%). Malignant potential is significantly lower (less than 70%) in the pediatric age group compared to adults (90%) [ 6 ]. According to Pohl et al, 74% of prepubertal testicular tumors are benign [ 7 ].
Asunto(s)
Neoplasias Testiculares/patología , Adolescente , Niño , Preescolar , Humanos , Incidencia , Masculino , Neoplasias Testiculares/epidemiologíaRESUMEN
Acute scrotal pain in children represents a major diagnostic and therapeutic challenge. An important initial differentiation should be made between epididymitis and other processes that cause acute scrotal pain, such as testicular torsion and tumor. Infectious agents disseminating through the blood flow can damage the testis by causing orchitis. On the other hand, infections ascending via spermatic pathways typically lead to epididymitis [ 1 ].
Asunto(s)
Inflamación , Enfermedades Testiculares , Niño , Humanos , MasculinoRESUMEN
Testicles can be damaged by a variety of physical and chemical agents, ranging from trauma suffered in accidents or athletic activities, to diverse drugs or radiation used in cancer treatment. The immediate and long-term effects of these damaging agents at the testicular morphologic and functional levels are quite varied and may have significant impact on the fertility of the pediatric patient once reproductive age is reached.
Asunto(s)
Enfermedades Testiculares/inducido químicamente , Testículo/lesiones , Testículo/patología , Preescolar , Humanos , MasculinoAsunto(s)
Trastornos Gonadales , Hipogonadismo , Niño , Preescolar , Humanos , Lactante , Recién Nacido , MasculinoRESUMEN
Normal testicular physiology requires appropriate function of endocrine glands and other tissues. Testicular lesions have been described in disorders involving the hypothalamus-hypophysis, thyroid glands, adrenal glands, pancreas, liver, kidney, and gastrointestinal tract. Testicular abnormalities can also associate with chronic anemia, obesity, and neoplasia. Although many of the disorders that affect the above-mentioned glands and tissues are congenital, acquired lesions may result in hypogonadism in children and adolescents.
Asunto(s)
Enfermedades Testiculares/etiología , Enfermedades Testiculares/patología , Adolescente , Niño , Preescolar , Enfermedad Crónica , Enfermedades del Sistema Endocrino/complicaciones , Humanos , MasculinoRESUMEN
Inborn errors of metabolism have wide and profound effects in many or all organs, and especially so in those with endocrine functions. The testes are greatly affected by systemic metabolic disorders, leading to specific histological findings that generally reveal the nature of the underlying disorder. Here we describe the main testicular changes seen in the setting of metabolic disease.
Asunto(s)
Errores Innatos del Metabolismo/complicaciones , Errores Innatos del Metabolismo/patología , Enfermedades Testiculares/etiología , Enfermedades Testiculares/patología , Testículo/patología , Humanos , MasculinoRESUMEN
Among the most frequent specimens at the pediatric surgical pathology bench, orchiectomy performed after testicular torsion deserves significant attention. Multiple implications, including fertility, legal complications, possibility of occult lesion, and others, need to be considered. Furthermore, torsion of testicular and other appendices represents common urological emergencies frequently encountered in surgical pathology. Here we present a review of testicular torsion and infarction, including theories about their pathogenesis and the appropriate handling by the diagnostic pathologist.
Asunto(s)
Torsión del Cordón Espermático , Niño , Humanos , Infarto/patología , Masculino , Enfermedades Testiculares/patología , Testículo/irrigación sanguínea , Testículo/patologíaRESUMEN
Varicocele is characterized by elongation, dilatation, and tortuosity of the veins draining the testis and its covers, causing circulatory reflux along the inner spermatic vein [ 1 ]. Varicocele results in progressive testicular lesions and, if untreated, can lead to testicular atrophy [ 2 ]. Varicocele is considered the most frequently identified cause of male infertility [ 3 ]. The mechanisms involved in varicocele formation are not well known and probably are multiple, differing from one patient to another.
Asunto(s)
Varicocele , Adolescente , Humanos , Masculino , Testículo/patologíaAsunto(s)
Hamartoma/patología , Enfermedades Testiculares/patología , Testículo/patología , Síndrome de Resistencia Androgénica/patología , Biopsia , Epidídimo/patología , Humanos , Linfangiectasia/patología , Masculino , Red Testicular/patología , Células de Sertoli/patología , Coloración y EtiquetadoAsunto(s)
Calcinosis/patología , Enfermedades Testiculares/patología , Testículo/patología , Calcinosis/epidemiología , Niño , Epidídimo/patología , Enfermedades de los Genitales Masculinos/epidemiología , Enfermedades de los Genitales Masculinos/patología , Humanos , Incidencia , Masculino , Enfermedades Testiculares/epidemiología , Conducto Deferente/patologíaRESUMEN
Cryptorchidism is one of the most frequent problems encountered in pediatric urology. Its causes, associated lesions, and prognosis in terms of fertility have been a source of interest and discrepancies for pediatric pathologists and urological surgeons.