ABSTRACT
Van Wyk-Grumbach syndrome (VWGS) refers to the development of peripheral precocious puberty, long-standing hypothyroidism, and gonadal masses; when not diagnosed, an unnecessary gonadectomy may be performed. Herein, we present a case of a 10-year-old girl with Down's syndrome, short stature, and vitiligo who presented to our hospital with vaginal bleeding and a palpable pelvic mass. Upon ultrasound and topographical examination, bilateral ovarian masses with negative tumor markers were detected. After bilateral gonadectomy, endocrine studies revealed profound hypothyroidism and peripheral puberty that led to the VWGS syndrome diagnosis (TSH 367.3 mUI/mL, isolated menstruation, indetectable LH, and elevated estradiol). Levothyroxine treatment improved obesity and short stature, and sexual hormone replacement began at 13 years of age. The literature on Van Wyk-Grumbach syndrome shows that it presents most often in women, and classic hypothyroidism symptoms always precede the diagnosis. Approximately 11% of patients have Down's syndrome, sometimes tumor markers are elevated, and some develop severe symptoms (myopathy, short stature, mental delay, ascites, pericardial effusion, Cullen's sign, pituitary hyperplasia, and severe anemia) that respond to levothyroxine treatment. Conclusions: Children with peripheral precocious puberty and gonadal masses must be studied for hypothyroidism before any radical decision is made.
ABSTRACT
Malaria is the most lethal parasitic disease worldwide; the severity of symptoms and mortality are higher in men than in women, exhibiting an evident sexual dimorphism in the immune response; therefore, the contribution of 17ß-estradiol and testosterone to this phenomenon has been studied. Both hormones differentially affect several aspects of innate and adaptive immunity. Dehydroepiandrosterone (DHEA) is the precursor of both hormones and is the sexual steroid in higher concentrations in humans, with immunomodulatory properties in different parasitic diseases; however, the involvement of DHEA in this sexual dimorphism has not been studied. In the case of malaria, the only information is that higher levels of DHEA are associated with reduced Plasmodium falciparum parasitemia. Therefore, this work aims to analyze the DHEA contribution to the sexual dimorphism of the immune response in malaria. We assessed the effect of modifying the concentration of DHEA on parasitemia, the number of immune cells in the spleen, cytokines, and antibody levels in plasma of CBA/Ca mice infected with Plasmodium berghei ANKA (P. berghei ANKA). DHEA differentially affected the immune response in males and females: it decreased IFN-γ, IL-2 and IL-4 concentrations only in females, whereas in gonadectomized males, it increased IgG2a and IgG3 antibodies. The results presented here show that DHEA modulates the immune response against Plasmodium differently in each sex, which helps to explain the sexual dimorphism present in malaria.
Subject(s)
Cytokines , Plasmodium berghei , Male , Humans , Mice , Female , Animals , Mice, Inbred CBA , Parasitemia , DehydroepiandrosteroneABSTRACT
Androgens are steroids that modulate various processes in the body, ranging from reproduction, metabolism, and even immune response. The main androgens are testosterone, dihydrotestosterone (DHT) and dehydroepiandrosterone (DHEA). These steroids modulate the development and function of immune response cells. Androgens are generally attributed to immunosuppressive effects; however, this is not always the case. Variations in the concentrations of these hormones induce differences in the innate, humoral, and cell-mediated immune response, which is concentration dependent. The androgens at the highest concentration in the organism that bind to the androgen receptor (AR) are DHEA and testosterone. Therefore, in this work, we review the effects of DHEA and testosterone on the immune response. The main findings of this review are that DHEA and testosterone induce similar but also opposite effects on the immune response. Both steroids promote the activation of regulatory T cells, which suppresses the Th17-type response. However, while testosterone suppresses the inflammatory response, DHEA promotes it, and this modulation is important for understanding the involvement of androgens in infectious (bacterial, viral and parasitic) and autoimmune diseases, as well as in the sexual dimorphism that occurs in these diseases.
Subject(s)
Dehydroepiandrosterone , Testosterone , Testosterone/pharmacology , Testosterone/metabolism , Dehydroepiandrosterone/pharmacology , Androgens/pharmacology , Dihydrotestosterone/pharmacology , Dihydrotestosterone/metabolism , Adaptive ImmunityABSTRACT
AIM: Endothelial mechanisms underlying the vascular effects of estrogen modulated by the G protein-coupled estrogen receptor (GPER) are not well understood, especially in gonadal sex hormone deprivation. Thus, we investigated vascular function and endothelial signaling pathways involved in the selective activation of GPER in resistance arteries of gonadectomized rats. METHODS: Gonadectomy was performed in Wistar rats of both sexes. After 21 days, the animals were euthanized. Concentration-response curves were obtained by cumulative additions of G-1 in third-order mesenteric arteries. The vasodilatory effects of G-1 were evaluated before and after endothelium removal or incubation with pharmacological inhibitors. Tissue protein expression was measured by western blotting. Assays with 4-amino-5-methylamino-2',7'-difluorofluorescein diacetate (DAF-FM) and 2',7' dichlorodihydrofluorescein-diacetate (H2DCF-DA) were performed in the arteries investigated. Immunolocalization was assessed by immunofluorescence. RESULTS: G-1 induced partially endothelium-dependent relaxation in both sexes. The three isoforms of the enzyme nitric oxide synthase contributed to the production and release of nitric oxide in both gonadectomized groups, but the role of inducible nitric oxide synthase is more expressive in males. The mechanistic pathway by which endothelial nitric oxide synthase is phosphorylated appears to differ between sexes, with the rapid signaling pathway phosphatidylinositol-3-kinase/protein kinase B/endothelial nitric oxide synthase (PI3k-Akt-eNOS) being identified for males and mitogen-activated protein kinase/extracellular signal-regulated kinase/endothelial nitric oxide synthase (MEK-ERK-eNOS) for females. The contribution of hydrogen peroxide as an endothelial relaxation mediator seems to be greater in females. CONCLUSION: These results provide new insights into the effects of estrogen-induced responses via GPER on vascular function in gonadal sex hormone deprivation.
Subject(s)
Nitric Oxide Synthase Type III , Proto-Oncogene Proteins c-akt , Animals , Endothelium, Vascular , Estrogens/metabolism , Estrogens/pharmacology , Extracellular Signal-Regulated MAP Kinases/metabolism , Female , GTP-Binding Proteins/metabolism , Gonadal Steroid Hormones/metabolism , Hydrogen Peroxide/metabolism , Male , Mesenteric Arteries , Mitogen-Activated Protein Kinase Kinases/metabolism , Mitogen-Activated Protein Kinase Kinases/pharmacology , Nitric Oxide/metabolism , Nitric Oxide Synthase/metabolism , Nitric Oxide Synthase Type II/metabolism , Nitric Oxide Synthase Type III/metabolism , Phosphatidylinositol 3-Kinases/metabolism , Phosphatidylinositols/metabolism , Phosphatidylinositols/pharmacology , Proto-Oncogene Proteins c-akt/metabolism , Rats , Rats, Wistar , Receptors, Estrogen/metabolism , Receptors, G-Protein-Coupled/metabolism , Sex Characteristics , Signal Transduction , Vasodilator Agents/pharmacologyABSTRACT
Abstract Swyer syndrome is one of the disorders of sexual differentiation. Previous studies have demonstrated increased sympathetic activity with heart rate variability (HRV) analysis with decreasing estradiol levels. One patient presented a pure 46, XY gonadal dysgenesis with female phenotype. Cardiac autonomic modulation was assessed through HRV analysis while at rest. This research analyzed linear and nonlinear indexes. HRV analysis showed reduced parasympathetic and global modulation with an apparent increase in sympathetic tone and a loss of HR fractal dynamics toward correlated behavior, characterized by low entropy and high determinism of time series.
Subject(s)
Humans , Female , Middle Aged , Cardiovascular Diseases/complications , Gonadal Dysgenesis, 46,XY/complications , Progestins/therapeutic use , Linear Models , Nonlinear Dynamics , Hormone Replacement Therapy , Estrogens/therapeutic useABSTRACT
Background: The expression and overexpression of luteinizing hormone (LH) receptors in the canine adrenal gland cortex have been reported. Therefore, it was hypothesized that a LH-dependent form of Cushing's syndrome (CS) could exist in dogs. Aim: To assess whether the adrenal gland post-ovariectomy (OVx) exhibits a greater response to adrenocorticotrophin (ACTH) stimulation; to evaluate whether the adrenal gland responds to human chorionic gonadotropin (hCG) stimulation by increasing the release of cortisol; and to consider whether hCG stimulus testing would be useful as a diagnosis for possible cases of LH-dependent CS. Methods: Cortisol concentrations were measured from healthy female dogs (n=16) at baseline and following ACTH stimulation before and 2 months after gonadectomy (OVx). Cortisol concentrations were also measured for female dogs with CS (n = 14) following administration of hCG (5000 IU). A post-hCG cortisol concentration greater than 140 nmol/l was used to define dogs with LH-dependent Cushing's syndrome. Results: In normal female dogs, both pre- and post-stimulation cortisol concentrations increased following OVx (p = 0.002 and p = 0.0003, respectively). In female dogs with CS, cortisol concentrations increased following stimulation with hCG in 57% (8/14; p = 0.002). Age at the time of OVx was associated (p = 0.015) with the cortisol response to hCG [8 (5-9) years vs. 3.5 (2-6) years, p = 0.0013). Conclusion: Based on these results, an LH-dependent form of CS occurs in spayed female dogs, and that it is more likely to occur when female dogs are spayed later in life.
Subject(s)
Adrenal Cortex , Cushing Syndrome , Adrenocorticotropic Hormone/pharmacology , Animals , Chorionic Gonadotropin/pharmacology , Dogs , Female , HydrocortisoneABSTRACT
Complete androgen insensitivity syndrome (CAIS) is a rare condition characterized by 46,XY karyotype, female external genitalia, absence of uterus, and testes located intra-abdominally, in the inguinal ring or in the labia majora. In the present study, the frequency of testicular malignancy in prepubertal and pubertal patients with CAIS who underwent gonadectomy or gonadal biopsy were evaluated. Systematic review was performed using electronic databases according to the PRISMA-P (Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols) guidelines. The samples included 15 articles published between 1998 and 2019. From a total of 456 patients who underwent gonadectomy or gonadal biopsy, 6.14% had a premalignant lesion and most were postpubertal (82.14%). A malignant lesion was found in 1.3% and all were postpubertal. Because the risk of malignancy is very low in prepubertal patients with CAIS, gonadectomy may be delayed until puberty is complete, allowing it to progress naturally; however, close follow-up of the patient is required.
ABSTRACT
This study interrogated factors which affect the appearance of secondary sexual characteristics, namely, fin spinelets (rigid dimorphic structure empirically associated with male sexual maturity in characids), in Astyanax altiparanae. Many variables such as the season of the year and several biotic components, including organism length, sex, phase of maturation, and the presence of gonads, were investigated. These factors were then associated with the physiological development of fin spinelets. The development of this trait is related to reproductive strategies but demonstrates considerable population variability as it is found throughout the year in some species but only during specific periods in others. Seventy-five specimens obtained from spontaneous spawn of farmed fish were arbitrarily grouped into small-, medium-, and large-sized groups in both summer and winter. Gonadal histology was performed to confirm each animal's sex and phase of maturation. Diaphanization of the fish was performed to visualize, count, and measure the fin spinelets. Finally, gonadectomization of some males was utilized to investigate the gonadal effect on the presence of fin spinelets. The present results show that the presence of fin spinelets is a secondary sexual characteristic of males which occurs independently of the season and is always present in males longer than 48 mm. However, in the summer, male specimens presented more rays with fin spinelets than during the winter. Furthermore, since fin spinelets were observed on immature males as well as spawning capable males, their presence cannot be directly associated with sexual maturity in male A. altiparanae, as previously supposed. Finally, gonadectomization resulted in an initial reduction in the length of fin spinelets. However, this trend was eventually normalized with time.
Subject(s)
Animal Fins/anatomy & histology , Characidae/anatomy & histology , Sex Characteristics , Animals , Castration , Female , Male , Ovary/anatomy & histology , Ovary/surgery , Seasons , Testis/anatomy & histology , Testis/surgeryABSTRACT
Neutering or spaying is a commonly recommended veterinary procedure. However, veterinarians are often confronted with conflicting findings and differences in concepts regarding practice and proper nutritional management after the procedure. The objective of the present review was to bring to light the most recent literature, summarise it and discuss the findings focusing on the risks and benefits of neutering in dogs and cats, and to determine the appropriate nutritional management for these animals.
Subject(s)
Cat Diseases , Dog Diseases , Veterinarians , Animals , Cats , Dog Diseases/prevention & control , Dogs , HumansABSTRACT
OBJECTIVES: The effect of oestrogen in hormonal dysfunction is not clear, especially in the coronary vascular bed. This study aimed at estradiol action (E2) in the coronary vascular bed from sham-operated and gonadectomized female and male spontaneously hypertensive rats (SHRs). METHODS: Male and female SHRs had their mean arterial pressure (MAP) and baseline coronary perfusion pressure (CPP) determined. The effects of E2 (10 µM) were evaluated in isolated hearts by in bolus infusion before and after endothelium denudation (0.25 µM sodium deoxycholate) or perfusion with 100 µM NG-nitro-l-arginine methyl ester (L-NAME), 2.8 µM indomethacin, 0.75 µM clotrimazole, L-NAME after endothelium denudation, L-NAME plus indomethacin, or 4 mM tetraethylammonium (TEA). RESULTS: MAP was higher in males than in females, with gonadectomy increasing in females and reducing in males. CPP was higher in female group, remaining unaltered after gonadectomy. E2-induced vasorelaxation was observed in all groups, with no differences having been found between sexes even after gonadectomy. Perfusion with TEA, L-NAME, L-NAME plus indomethacin, and L-NAME after endothelium removal attenuated the relaxing response in all groups. Clotrimazole inhibited vasorelaxation only in female groups, and indomethacin did so only in gonadectomized groups. Endothelium participation was confirmed in female groups and in the gonadectomized male group. CONCLUSIONS: Our results indicated that the vasodilator effect of E2 was mediated by an indirect mechanism - via endothelium - as well as by direct action - via vascular smooth muscle - in both groups. The characterization of these mechanisms in coronary arteries might shed light on the functional basis of hormonal dysfunction symptoms in hypertension.
Subject(s)
Estradiol/pharmacology , Heart/drug effects , Hypertension/physiopathology , Vasodilation/drug effects , Animals , Female , Male , Orchiectomy , Ovariectomy , Rats , Rats, Inbred SHRABSTRACT
Catnip (Nepeta cataria) is a popular plant among cat owners because in about 60% of felids elicits active behaviors such as rolling over, grooming, motor activity and vocalizations. Herein, we assessed the display of active but also passive responses, such as time in sphinx-like position, and consequently hypothesized that 100% of cats respond to catnip. Accordingly, sixty domestic cats of different age (infant, juvenile, adults), sex (males, females) and gonadal status (early gonadectomized, gonadally intact) were placed in a cylindrical chamber (1.20×1.40m) during 5min and then exposed to 500mg of dehydrated catnip for another 5min. Behaviors were videorecorded and scored. Results indicated that about 20% of the cats (adults and juvenile only) displayed active behaviors (i.e. rolling over), whereas 80% displayed passive responses at any age (sphinx-like position, decreased frequency in vocalizations, and decreased motor activity). These results suggest that all cats respond to catnip but they express it actively, passively or with a combination of both types of responses, which mainly depends on age and sex, and early gonadectomy to a much less extent. We discuss the possible implications of brain maturation on this dichotomy and speculate on the role of opioidergic system on the catnip responses.
Subject(s)
Age Factors , Behavior, Animal/drug effects , Castration/psychology , Nepeta , Sex Factors , Administration, Inhalation , Animals , Cats , Female , MaleABSTRACT
Prepubertal gonadectomy is defined as the surgical sterilization of immature male and female animalsaging from 6-to-14 weeks, and it is a less invasive, less traumatic surgery when performed prior to puberty thanin adult animals. In dogs, growth plate closure is delayed when surgery is performed prior to puberty, but thedelay is significantly longer when neutering is done at 7 weeks as compared to 7 months. External genitalia donot develop fully: penile and preputial immaturity and decreased radiodensity of the os penis are frequentlyobserved. Vulvar development is also often insufficient in bitches gonadectomised at 7 weeks. Heat productionis 28% lower in neutered compared to intact cats. A decrease in urethral diameter has been observed in neuteredfemale but not male cats. Effects of prepuberal gonadectomy on behaviour vary depending on species and sex. Ingeneral, excitability and degree of activity are increased in males and females gonadectomised at 7 weeks or 7months, and when surgery is done at 7 weeks animals are found to be more excitable if compared to thosegonadectomised at 7 months. Incidence of urinary incontinence in the canine population may increasesignificantly when gonadectomy is done prior to 3 months of age. The most important anesthetic and surgicalconsiderations concern fasting, the use of a warm environment, the use of short-acting inducing drugs, of volatileanesthesia. Prepubertal neutering is probably an acceptable technique for dogs and cats, although it carries some(minor) risks which should be explained in details whenever using it for client-owned animals.(AU)
Subject(s)
Animals , Cats , Dogs , Castration/adverse effects , Castration/rehabilitation , Castration/veterinary , Sterilization, Reproductive/adverse effects , Sterilization, Reproductive/veterinaryABSTRACT
Prepubertal gonadectomy is defined as the surgical sterilization of immature male and female animalsaging from 6-to-14 weeks, and it is a less invasive, less traumatic surgery when performed prior to puberty thanin adult animals. In dogs, growth plate closure is delayed when surgery is performed prior to puberty, but thedelay is significantly longer when neutering is done at 7 weeks as compared to 7 months. External genitalia donot develop fully: penile and preputial immaturity and decreased radiodensity of the os penis are frequentlyobserved. Vulvar development is also often insufficient in bitches gonadectomised at 7 weeks. Heat productionis 28% lower in neutered compared to intact cats. A decrease in urethral diameter has been observed in neuteredfemale but not male cats. Effects of prepuberal gonadectomy on behaviour vary depending on species and sex. Ingeneral, excitability and degree of activity are increased in males and females gonadectomised at 7 weeks or 7months, and when surgery is done at 7 weeks animals are found to be more excitable if compared to thosegonadectomised at 7 months. Incidence of urinary incontinence in the canine population may increasesignificantly when gonadectomy is done prior to 3 months of age. The most important anesthetic and surgicalconsiderations concern fasting, the use of a warm environment, the use of short-acting inducing drugs, of volatileanesthesia. Prepubertal neutering is probably an acceptable technique for dogs and cats, although it carries some(minor) risks which should be explained in details whenever using it for client-owned animals.
Subject(s)
Animals , Cats , Dogs , Castration/adverse effects , Castration/rehabilitation , Castration/veterinary , Sterilization, Reproductive/adverse effects , Sterilization, Reproductive/veterinaryABSTRACT
The posterodorsal medial amygdala (MePD) is responsive to androgens and participates in the integration of olfactory/vomeronasal stimuli for the display of sexual behavior in rats. Adult gonadectomy (GDX) affects the MePD structural integrity at the same time that impairs male mating behavior. At the cellular level, dendritic spines modulate excitatory synaptic transmission, strength, and plasticity. Here, we describe the effect of GDX on the number and shape of dendritic spines in the right and left MePD using confocal microscopy and 3D image reconstruction. Age-matched adult rats were intact (n = 6), submitted to a sham procedure (n = 4) or castrated and studied 90 days after GDX (n = 5). The MePD neurons have a density of 1.1 spines/dendritic µm composed of thin, mushroom-like, stubby/wide, and few ramified or atypical spines. Irrespective of brain hemisphere, GDX decreased the dendritic spine density in the MePD, but induced different effects on each spine type. That is, compared to control groups, GDX reduced (i) the number (up to 50%) of thin, mushroom-like, and ramified spines, and (ii) the size and the neck length of thin spines as well as the head diameter of ramified spines. Besides, GDX increased the number of stubby/wide and atypical spines (up to 140% and 400%, respectively). These data show that GDX promotes a cellular and synaptic reorganization in a spine-specific manner in the MePD. By altering the number and shape of these connectional elements, GDX can affect the neural transmission and hinder the function of integrated brain circuitries in the male brain.
Subject(s)
Amygdala/cytology , Castration , Dendritic Spines/physiology , Amygdala/metabolism , Animals , Dendritic Spines/ultrastructure , Male , Rats , Rats, WistarABSTRACT
The birth of a child with a disorder of sex development (DSD) prompts a long-term management strategy that involves a myriad of professionals working with the family. There has been progress in diagnosis, surgical techniques and in understanding psychosocial issues related to this condition. However, since these kinds of disorders are rare and have many anatomical variations, individual care is necessary, especially regarding surgical management. Gonadectomy is indicated in a number of intersex disorders with a Y chromosome to reduce the associated risk of cancer. Recently, laparoscopy has gained wide acceptance in pediatric urology. Laparoscopy is also reported to be a useful tool for diagnosing and treating DSD because of its minimal invasiveness and favorable cosmetic outcome. However, reports of evaluation and management using laparoscopy for large numbers of DSD patients are limited and debate is still open about indications and timing of gonadectomy. In this study, we reviewed the literature of the last 10 years about the role of laparoscopic gonadectomy in patients with DSD. In the analyzed papers, all the procedures were accomplished successfully using laparoscopy. No conversions to open surgery neither intra-operative complications were reported in all series. Post-operative complications were reported only in one series and included 1 umbilical port infection [2% (1/50)] and 1 pelvic abscess [2% (1/50)], both treated with antibiotic therapy (grade I Clavien-Dindo). Of the analyzed series, 7/10 reported postoperative diagnosis of gonadal tumors. The histopathologic examinations revealed 15 cases of gonadoblastoma, 7 cases of dysgerminoma and 2 cases of seminoma. Analyzing the single series, the incidence of these tumors varied between 10% and 33%. The results of our review confirmed the safety and efficacy of laparoscopic gonadectomy in DSD patients. In our mind, laparoscopic gonadectomy should be accepted as the treatment of choice in children and adolescents with these rare conditions. It thereby eliminates the risk of malignancies of gonadal origin with the advantages of a minimally invasive procedure, with lower morbidity, quicker postoperative recovery and excellent cosmetic results.
ABSTRACT
The relaxation of coronary arteries by estrogens in the coronary vascular beds of naive and hypertensive rats has been well described. However, little is known about this action in gonadectomized rats. We investigated the effect of 17-ß-estradiol (E2) in coronary arteries from gonadectomized rats, as well as the contributions of endothelium-derived factors and potassium channels. Eight-week-old female and male Wistar rats weighing 220-300 g were divided into sham-operated and gonadectomized groups (n=9−12 animals per group). The baseline coronary perfusion pressure (CPP) was determined, and the vasoactive effects of 10 μM E2 were assessed by bolus administration before and after endothelium denudation or by perfusion with NG-nitro-L-arginine methyl ester (L-NAME), indomethacin, clotrimazole, L-NAME plus indomethacin, L-NAME plus clotrimazole or tetraethylammonium (TEA). The CPP differed significantly between the female and sham-operated male animals. Gonadectomy reduced the CPP only in female rats. Differences in E2-induced relaxation were observed between the female and male animals, but male castration did not alter this response. For both sexes, the relaxation response to E2 was, at least partly, endothelium-dependent. The response to E2 was reduced only in the sham-operated female rats treated with L-NAME. However, in the presence of indomethacin, clotrimazole, L-NAME plus indomethacin or L-NAME plus clotrimazole, or TEA, the E2 response was significantly reduced in all groups. These results highlight the importance of prostacyclin, endothelium-derived hyperpolarizing factor, and potassium channels in the relaxation response of coronary arteries to E2 in all groups, whereas nitric oxide may have had an important role only in the sham-operated female group.
Subject(s)
Animals , Male , Female , Rats , Gonadal Steroid Hormones/deficiency , Vasodilation/drug effects , Vasodilator Agents/pharmacology , Endothelium, Vascular/drug effects , Coronary Vessels/drug effects , Estradiol/pharmacology , Heart/drug effects , Endothelium, Vascular/physiology , Orchiectomy , Ovariectomy , Rats, Wistar , Coronary Vessels/physiologyABSTRACT
Antecedentes. Los tumores de células germinales son un grupo heterogéneo de neoplasias que corresponden al 1-3% de los tumores en pediatría. Por lo general, se manifiestan clínicamente con masa testicular o dolor abdominal. Objetivo. Describir las características de los pacientes con tumores germinales gonadales en un centro de referencia de cáncer pediátrico en Colombia. Materiales y métodos. Este artículo hace una revisión retrospectiva recopilando 20 años de experiencia en el diagnóstico y manejo de estos tumores en la Fundación Hospital de la Misericordia. Resultados. Se encontraron 79 pacientes, 35 hombres y 44 mujeres, con un promedio de edad, al diagnóstico, de 6 años. El teratoma fue la neoplasia más frecuente en el sexo femenino y el tumor del seno endodérmico en el masculino. El 70,9% de los pacientes se diagnosticaron en estadio I; se tienen datos de marcadores tumorales en 84,8%. El 98,7% se manejaron con cirugía y 58,2% recibieron además quimioterapia, especialmente protocolo BEP. 96% alcanzaron remisión de la enfermedad, 3 pacientes fallecieron. Conclusiones. El estudio demuestra buenos resultados en el manejo de los tumores germinales gonadales con el protocolo establecido de manejo quirúrgico y quimioterapia, se encontró una baja tasa de recurrencia en el periodo evaluado y alto porcentaje de niños libres de enfermedad.
Background. Germ cell tumors are a heterogeneous group of neoplasms corresponding to 1-3% of pediatric tumors. They usually manifest clinically as testicular mass or abdominal pain. Objective. To make a description of gonadal germ cell tumor types in pediatric referral center in Colombia. Materials and methods. This article takes a retrospective review compiling 20 years of experience in diagnosis and management of these tumors in the Fundación Hospital de La Misericordia. Results. We found 79 patients, 35 men and 44 women, with an average age at diagnosis of 6 years. The teratoma was the most common neoplasia in females and endodermal sinus tumor in men. 70.9% of patients were diagnosed with stage I. In 84,8% measuring tumor markers were obtained. 98.7% were managed with surgery and 58.2% also received chemotherapy, especially BEP protocol. 96% achieved disease remission, 3 patients died. Conclusions. The study shows good results in the management of gonadal germ cell tumors with the established protocol and low recurrence rate in the evaluated period and high rates of children free of disease, were found a low rate of recurrence in the assessment period and high percentage of free of disease.
ABSTRACT
Ullrich-Turner syndrome (UTS) is a common chromosomal abnormality caused by partial or complete X chromosome monosomy. One half of the patients have a 45,X karyotype, whereas the remaining patients display other X chromosome anomalies. In 6% to 11% of UTS, a normal or partly deleted Y chromosome has been found. A 10% to 30% risk of developing gonadoblastoma was found in the latter patients. The aim of this study was to evaluate the prevalence of Y chromosome-derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplasms in patients with UTS. Of 217 patients studied with UTS and chromosome analysis of peripheral-blood lymphocytes, Y chromosome material was found in 20 patients. Fluorescence in situ hybridization (FISH) testing was performed to characterize the structurally abnormal Y chromosome in 13 cases. Molecular analysis of the SRY gene could only be performed in 20 patients with 45,X karyotype. Two patients had the SRY genomes. Of the 20 patients with Y chromosome-derived material, 17 underwent gonadectomy. The incidence of gonadoblastoma development in our series was 35.5%. Furthermore, 1 patient also showed a pure dysgerminoma, and another showed a mixed dysgerminoma and embryonal carcinoma. We emphasize the importance of complete processing of the gonadectomy specimen, including step sections, molecular studies, and FISH, in addition to the classic cytogenetic searching for Y chromosome sequences, in patients who present with a nonmosaic 45,X karyotype. Finally, we propose to routinely collect a sample for storage in the tumor bank for future studies.
Subject(s)
Chromosomes, Human, X/genetics , Chromosomes, Human, Y/genetics , Gonadoblastoma/genetics , Ovarian Neoplasms/genetics , Turner Syndrome/genetics , Adolescent , Argentina/epidemiology , Child , Child, Preschool , Female , Genetic Predisposition to Disease , Gonadoblastoma/epidemiology , Gonadoblastoma/pathology , Gonadoblastoma/surgery , Humans , In Situ Hybridization, Fluorescence , Incidence , Karyotype , Karyotyping , Mosaicism , Ovarian Neoplasms/epidemiology , Ovarian Neoplasms/pathology , Ovarian Neoplasms/surgery , Phenotype , Sex-Determining Region Y Protein/genetics , Treatment Outcome , Turner Syndrome/epidemiology , Turner Syndrome/pathologyABSTRACT
A população de cães e gatos errantes é um problema grave de saúde pública e bem estar animal e a gonadectomia pré-puberal a partir de seis semanas de idade é a base para controle populacional efetivo. Os efeitos benéficos e maléficos são discutidos nesta revisão, auxiliando o médico veterinário a obter conhecimento e fundamentação científica para análise crítica do tema, propagação dessa prática e conscientização de proprietários.
Stray dogs and cats is a serious problem to public health and animal welfare. Prepubertal gonadectomy from six weeks of age is a solution to effective pet overpopulation control. The benefits and adverse effects of this procedure are discussed in this paper, allowing the veterinarians to obtain knowledge and scientific basis to critical analysis to the topic, practice spread and owner awareness.
ABSTRACT
Stray dogs and cats is a serious problem to public health and animal welfare. Prepubertal gonadectomy from six weeks of age is a solution to effective pet overpopulation control. The benefits and adverse effects of this procedure are discussed in this paper, allowing the veterinarians to obtain knowledge and scientific basis to critical analysis to the topic, practice spread and owner awareness.
A população de cães e gatos errantes é um problema grave de saúde pública e bem estar animal e a gonadectomia pré-puberal a partir de seis semanas de idade é a base para controle populacional efetivo. Os efeitos benéficos e maléficos são discutidos nesta revisão, auxiliando o médico veterinário a obter conhecimento e fundamentação científica para análise crítica do tema, propagação dessa prática e conscientização de proprietários.