RESUMO
Studies on reproduction in sea turtles are important due to its life cycle, migratory patterns, high juvenile mortality and environmental impacts. This study aimed to analyse histomorphometrically gonads of C. mydas from the coastline of the Espírito Santo State, Brazil. Ovaries and testicles were collected between 2014 and 2015 from stranded animals. The material was fixed in formalin 10%, assessed macroscopically and processed for histomorphometrical evaluation. Gonads from 34 individuals were evaluated, twenty-four females and ten males. Macroscopic sexual identification presented 100% accuracy confirmed by histology. Sexual dimorphism was observed in one individual, which was considered as adult (CCL=1.023 m). Microscopy of female gonads revealed predominant previtellogenic follicles; oocyte diameter ranged between 161µm and 750µm and a positive correlation between ovarian length, largest oocyte and CCL was found. In males, autolysis was verified in five individuals. Viable testicles revealed predominant spermatogonia, primary spermatocytes and Sertoli cells in the seminiferous tubules and, Leydig cells and fibroblasts in the stroma. There was a positive correlation between tubular diameter and CCL and testicle length and CCL. Maturation of stromal tissue and a positive correlation between tubular lumen and CCL were also observed. Gonad development is proportional to individual growth.(AU)
Estudos em reprodução de tartarugas marinhas são importantes devido ao ciclo de vida, ao padrão migratório, à alta mortalidade juvenil e aos impactos ambientais. Objetivou-se analisar histomorfometricamente gônadas de C. mydas no litoral do Espírito Santo. Foram coletados ovários e testículos dessa espécie, entre 2014 e 2015. O material foi fixado em formol a 10% e avaliado macroscopicamente. Em seguida, foi processado para avaliação histomorfométrica. Foram avaliadas gônadas de 34 indivíduos, 24 fêmeas e 10 machos. Verificaram-se 100% de acurácia na identificação sexual à macroscopia, confirmada pela histologia. Observou-se dimorfismo sexual em um macho, que foi considerado adulto (CCC=1,023m). A microscopia dos ovários revelou folículos pré-vitelogênicos, cujos ovócitos apresentaram diâmetro médio entre 161µm e 750µm. Houve correlação positiva entre comprimento ovariano e diâmetro do maior ovócito e CCC. Nos machos, verificou-se autólise em cinco indivíduos. Os testículos viáveis revelaram espermatogônias, espermatócitos primários e células de Sertoli nos túbulos seminíferos, além de células de Leydig e fibroblastos no estroma. Houve correlação positiva entre diâmetro tubular e CCC e comprimento testicular e CCC. Verificou-se maturação do tecido estromal e correlação positiva entre o diâmetro do lúmen tubular e o CCC. Verifica-se que o desenvolvimento das gônadas é proporcional ao crescimento dos indivíduos.(AU)
Assuntos
Animais , Tartarugas/anatomia & histologia , Gônadas/anormalidades , Testículo/crescimento & desenvolvimento , HistologiaRESUMO
Studies on reproduction in sea turtles are important due to its life cycle, migratory patterns, high juvenile mortality and environmental impacts. This study aimed to analyse histomorphometrically gonads of C. mydas from the coastline of the Espírito Santo State, Brazil. Ovaries and testicles were collected between 2014 and 2015 from stranded animals. The material was fixed in formalin 10%, assessed macroscopically and processed for histomorphometrical evaluation. Gonads from 34 individuals were evaluated, twenty-four females and ten males. Macroscopic sexual identification presented 100% accuracy confirmed by histology. Sexual dimorphism was observed in one individual, which was considered as adult (CCL=1.023 m). Microscopy of female gonads revealed predominant previtellogenic follicles; oocyte diameter ranged between 161µm and 750µm and a positive correlation between ovarian length, largest oocyte and CCL was found. In males, autolysis was verified in five individuals. Viable testicles revealed predominant spermatogonia, primary spermatocytes and Sertoli cells in the seminiferous tubules and, Leydig cells and fibroblasts in the stroma. There was a positive correlation between tubular diameter and CCL and testicle length and CCL. Maturation of stromal tissue and a positive correlation between tubular lumen and CCL were also observed. Gonad development is proportional to individual growth.(AU)
Estudos em reprodução de tartarugas marinhas são importantes devido ao ciclo de vida, ao padrão migratório, à alta mortalidade juvenil e aos impactos ambientais. Objetivou-se analisar histomorfometricamente gônadas de C. mydas no litoral do Espírito Santo. Foram coletados ovários e testículos dessa espécie, entre 2014 e 2015. O material foi fixado em formol a 10% e avaliado macroscopicamente. Em seguida, foi processado para avaliação histomorfométrica. Foram avaliadas gônadas de 34 indivíduos, 24 fêmeas e 10 machos. Verificaram-se 100% de acurácia na identificação sexual à macroscopia, confirmada pela histologia. Observou-se dimorfismo sexual em um macho, que foi considerado adulto (CCC=1,023m). A microscopia dos ovários revelou folículos pré-vitelogênicos, cujos ovócitos apresentaram diâmetro médio entre 161µm e 750µm. Houve correlação positiva entre comprimento ovariano e diâmetro do maior ovócito e CCC. Nos machos, verificou-se autólise em cinco indivíduos. Os testículos viáveis revelaram espermatogônias, espermatócitos primários e células de Sertoli nos túbulos seminíferos, além de células de Leydig e fibroblastos no estroma. Houve correlação positiva entre diâmetro tubular e CCC e comprimento testicular e CCC. Verificou-se maturação do tecido estromal e correlação positiva entre o diâmetro do lúmen tubular e o CCC. Verifica-se que o desenvolvimento das gônadas é proporcional ao crescimento dos indivíduos.(AU)
Assuntos
Animais , Testículo/crescimento & desenvolvimento , Tartarugas/anatomia & histologia , Gônadas/anormalidades , HistologiaRESUMO
A critical step in the development of gametes is the migration of their primordial germ cell (PGC) precursors to the forming gonads. Although the location and mode of PGC specification differs between organisms, the formation of a committed germline before organogenesis creates a need for migration through the growing embryo in order to reach the site of gonadogenesis. Failure of PGC migration can, in many cases, compromise fertility or conversely lead to the formation of teratomas in sites outside of the gonad. Here we review the mechanism of migration employed by PGCs and compare the timing and routes across several model organisms. We summarize recent work on the role of the Wnt signaling pathway in cell migration and the lineage specific function in PGCs, mainly through the ligand Wnt5a and its receptor Ror2.(AU)
Assuntos
Células Germinativas/crescimento & desenvolvimento , Desenvolvimento Embrionário , Movimento Celular , Gônadas/anormalidadesRESUMO
A critical step in the development of gametes is the migration of their primordial germ cell (PGC) precursors to the forming gonads. Although the location and mode of PGC specification differs between organisms, the formation of a committed germline before organogenesis creates a need for migration through the growing embryo in order to reach the site of gonadogenesis. Failure of PGC migration can, in many cases, compromise fertility or conversely lead to the formation of teratomas in sites outside of the gonad. Here we review the mechanism of migration employed by PGCs and compare the timing and routes across several model organisms. We summarize recent work on the role of the Wnt signaling pathway in cell migration and the lineage specific function in PGCs, mainly through the ligand Wnt5a and its receptor Ror2.
Assuntos
Células Germinativas/crescimento & desenvolvimento , Desenvolvimento Embrionário , Gônadas/anormalidades , Movimento CelularRESUMO
Voluta musica is a dioecious marine gastropod endemic of the South Caribbean. Tributyltin (TBT) and copper (Cu) are potential inducers of imposex, an endocrine disorder by which females develop a penis and/or vas deferens. The goal of this work was to determine the imposex incidence in V. musica populations from Northeastern Peninsula de Araya. For this, we selected three sites (Isla Caribe, Isla Lobos and Bajo Cuspe) and made monthly samplings of 15 snails in each site, during one year, and determined: (1) sizes; (2) sex and imposex incidence and (3) the Relative Penis Length Index (RPLI). We also performed histological analysis of the gonads, and measured TBT and Cu concentrations in sediments from the studied localities. Our results showed that the total number of sampled females affected by imposex was 24.5% at Isla Caribe, 12% at Isla Lobos, and none at Bajo Cuspe. In sediments, Cu was detected mostly in Isla Lobos. The female gonads with imposex did not show any development of male cells in any of the sampled sites. The higher percentage of females with imposex matched with the higher boat traffic locality, and higher TBT level (Isla Caribe). No esterilization was evident in this work, nevertheless, the presence of TBT and Cu in the sediments and females with imposex were considered as a potential threat to V. musica populations in this region. In Venezuela there is no control over this particular issue, possibly because of the lack of information and research in this topic, but certainly, this information will be useful in biodiversity conservation policies.
Assuntos
Transtornos do Desenvolvimento Sexual/veterinária , Gastrópodes/efeitos dos fármacos , Gônadas/efeitos dos fármacos , Compostos de Trialquitina/toxicidade , Poluentes Químicos da Água/toxicidade , Animais , Transtornos do Desenvolvimento Sexual/induzido quimicamente , Monitoramento Ambiental , Feminino , Gônadas/anormalidades , Masculino , VenezuelaRESUMO
Voluta musica is a dioecious marine gastropod endemic of the South Caribbean. Tributyltin (TBT) and copper (Cu) are potential inducers of imposex, an endocrine disorder by which females develop a penis and/or vas deferens. The goal of this work was to determine the imposex incidence in V. musica populations from Northeastern Península de Araya. For this, we selected three sites (Isla Caribe, Isla Lobos and Bajo Cuspe) and made monthly samplings of 15 snails in each site, during one year, and determined: (1) sizes; (2) sex and imposex incidence and (3) the Relative Penis Length Index (RPLI). We also performed histological analysis of the gonads, and measured TBT and Cu concentrations in sediments from the studied localities. Our results showed that the total number of sampled females affected by imposex was 24.5% at Isla Caribe, 12% at Isla Lobos, and none at Bajo Cuspe. In sediments, Cu was detected mostly in Isla Lobos. The female gonads with imposex did not show any development of male cells in any of the sampled sites. The higher percentage of females with imposex matched with the higher boat traffic locality, and higher TBT level (Isla Caribe). No esterilization was evident in this work, nevertheless, the presence of TBT and Cu in the sediments and females with imposex were considered as a potential threat to V. musica populations in this region. In Venezuela there is no control over this particular issue, possibly because of the lack of information and research in this topic, but certainly, this information will be useful in biodiversity conservation policies.
Voluta musica es un gasterópodo dioico endémico del Caribe sur. El TBT y el Cu, son potenciales causantes del imposex, fenómeno donde las hembras desarrollan un pene y/o vaso deferente. El objetivo fue determinar la incidencia de imposex en V. musica en el noreste de la Península de Araya. Se seleccionaron tres localidades y se captura-ron mensualmente 15 individuos durante un año para determinar: (1) talla de los individuos; (2) sexo y presencia de imposex; (3) índice Largo Relativo del Pene (RPLI). Se realizó histología de la gónada de los individuos. Se determinó TBT y Cu en el sedimento de cada localidad. En Isla Caribe, el 24.5% de las hembras presentó imposex, y se halló 3.9ngSn/g de TBT; en Isla Lobos, el 12% de las hembras desarrollaron imposex; en Bajo del Cuspe no se observó imposex. Se halló Cu en mayor concentración en Isla Lobos. Las gónadas femeninas con imposex no demos-traron masculinización. El mayor porcentaje de imposex coincide con la localidad de mayor tráfico de embarcacio-nes y con mayor nivel de TBT (Isla Caribe). No se eviden-ció esterilización, sin embargo la presencia de TBT, Cu e imposex son potenciales amenazas para las poblaciones de V. musica en la región. Hasta ahora, en Venezuela no se está tomando ninguna medida de control sobre este tema en particular, posiblemente por la escasez de información y orientación de las investigaciones hacia este tema, pero que sin duda se debería tomar en cuenta en las políticas para la conservación de la biodiversidad.
Assuntos
Animais , Feminino , Masculino , Transtornos do Desenvolvimento Sexual/veterinária , Gastrópodes/efeitos dos fármacos , Gônadas/efeitos dos fármacos , Compostos de Trialquitina/toxicidade , Poluentes Químicos da Água/toxicidade , Transtornos do Desenvolvimento Sexual/induzido quimicamente , Monitoramento Ambiental , Gônadas/anormalidades , VenezuelaRESUMO
Ginkgo biloba e Panax ginseng são plantas utilizadas na medicina tradicional. O objetivo do estudo foi avaliar a histologia gonadal de ratos machos e fêmeas Wistar submetidos aos tratamentos com o extrato de G. biloba (120 mg kg-1) ou P. ginseng (200 mg kg-1), e avaliar os parâmetros reprodutivos e fetais das ratas tratadas com as plantas. O grupo controle recebeu solução fisiológica 0,9%. Os tratamentos foram efetuados por via oral através de gavage, duas vezes ao dia, durante quinze dias consecutivos. Após este período, machos (n=18) e fêmeas (n=18) foram sacrificados e as gônadas coletadas, pesadas e processadas para avaliação microscópica. Outras fêmeas (n=18) foram acasaladas com machos não tratados para avaliação da fertilidade e produtos da gestação. Os resultados indicaram que o peso dos órgãos reprodutivos masculino e feminino não foi afetado pelos tratamentos. A estrutura gonadal dos machos e fêmeas mostrou o mesmo padrão histológico nos três grupos experimentais. O tratamento materno pré-gestacional com os extratos não promoveu alterações no desempenho reprodutivo das matrizes e nos parâmetros fetais. Concluiu-se que o extrato de P. ginseng ou G. biloba não causou toxicidade reprodutiva em ratos machos e fêmeas.
Ginkgo biloba and Panax ginseng are plants used in the traditional medicine. The aim of study was to analyse the gonadal histology of the Wistar male and female rats submitted to the treatments with extract of G. biloba (120 mg kg-1) or P. ginseng (200 mg kg-1), and to evaluate the reproductive and fetal parameters of female rats treated with the plants. The control group received physiological solution 0.9%. The treatments were administered by oral gavage, twice/day, during fifteen consecutive days. After this period, male (n=18) and female rats (n=18) were sacrificed and the gonads collected, weighed and processed for microscopic evaluation. Another females (n=18) were matted with not treated males for evaluation of fertility and pregnancy outcome. The results indicated that the male and feminine reproductive organs weight was not affected by treatments. The gonadal structure of male and female rats showed same histologic pattern in the three experimental groups. The pre-gestational treatment with the extracts not promoted alterations in the reproductive performance of dams and in the fetal parameters. It was concluded that the extract of P. ginseng or G. biloba not presented reproductive toxicity in the male and female rats.
Assuntos
Animais , Masculino , Feminino , Ratos , Extratos Vegetais/análise , Ginkgo biloba/metabolismo , Gônadas/anormalidades , Ovário , Reprodução , Testículo , Panax/metabolismoRESUMO
Conceitualmente, as gônadas disgenéticas são gônadas que não sofreram uma completa diferenciação. Em vista disso, constituem parte de uma ampla gama de entidades clínicas possuidoras de fenótipos e de genótipos diversos. Seus cariótipos contêm o cromossomo Y ou seus fragmentos, ou raramente não os contêm. Essas alterações geram maior risco para a ocorrência de neoplasias nessas gônadas. Na sequência deste estudo apresentamos as neoplasias mais comumente associadas aos diversos tipos de disgenesias gonadais. A neoplasia mais comum é o gonadoblastoma e outros como os disgerminomas e os tumores do seio endodérmico também podem estar associados. A detecção dessas anormalidades de modo precoce é o que nos motivou para a presente revisão
By definition, dysgenetic gonads are those that did not undergo a complete differentiation. They make up a vast array of clinical entities, having different phenotypes and genotypes. Their kariotypes contain the Y chromosome or fragments of it, and, in rare cases, do not contain it. Such alterations generate greater potential for the occurrence of neoplasms in such gonads. This study presents neoplasms which are most commonly associated with several types of gonadal dysgenesis. The most common neoplasia is gonadoblastoma and others like disgerminoma or yolk sac tumors may be associated. The early detection of such potential is the reason for this review
Assuntos
Humanos , Masculino , Feminino , Células Germinativas/patologia , Disgenesia Gonadal/complicações , Disgerminoma/etiologia , Gonadoblastoma/etiologia , Tumor do Seio Endodérmico/etiologia , Disgenesia Gonadal Mista , Gônadas/anormalidades , Síndrome de TurnerRESUMO
Parameters indicative of general condition and health were compared amongst adult frogs inhabiting uncultivated lands and fields subjected to agricultural practices typical of the humid pampas of Argentina. Whereas no significant differences existed in the parasite load and external malformations prevalence rate of adult frogs from either environments, a reduced condition factor was clearly demonstrated in frogs from agricultural lands. This conclusion was reached for four frog species of different life habits: the terrestrial fossorial Rhinella fernandezae, the terrestrial Leptodactylus latinasus, the semi-aquatic Leptodactylus ocellatus, and the arborescent Hypsiboas pulchellus. A distinct pattern of enzymatic modifications was furthermore observed in L. ocellatus and H. pulchellus from agricultural lands, including elevated hepatic activities of catalase and cholinesterase, and an inhibition of liver GST activity. Further studies should investigate the causes and consequences of the systematically low condition factor observed in frogs from agricultural fields of the humid pampas of Argentina.
Assuntos
Agricultura , Anuros/fisiologia , Praguicidas/toxicidade , Poluentes Químicos da Água/toxicidade , Animais , Anuros/metabolismo , Anuros/parasitologia , Argentina , Carbamatos/análise , Carbamatos/metabolismo , Carbamatos/toxicidade , Catalase/metabolismo , Colinesterases/metabolismo , Meio Ambiente , Monitoramento Ambiental , Feminino , Glutationa/metabolismo , Glutationa Transferase/antagonistas & inibidores , Glutationa Transferase/metabolismo , Gônadas/anormalidades , Gônadas/efeitos dos fármacos , Fígado/enzimologia , Fígado/metabolismo , Masculino , Compostos Organofosforados/análise , Compostos Organofosforados/metabolismo , Compostos Organofosforados/toxicidade , Praguicidas/análise , Praguicidas/metabolismo , Poluentes Químicos da Água/análise , Poluentes Químicos da Água/metabolismoRESUMO
The involvement of kisspeptin and neurokinin in B pathways in the reproductive axis was first suspected by linkage analysis in consanguineous families with isolated hypogonadotropic hypogonadism (IHH). Since then, several loss-of-function mutations affecting the kisspeptin receptor and neurokinin B and its receptor were associated with sporadic and familial IHH without olfactory abnormalities or other associated developmental alterations. Clinical manifestations were indistinguishable in individuals with mutations affecting these pathways. Micropenis and cryptorchidism were common findings among male patients. Response to acute GnRH stimulation varied from blunted to normal, and many affected males and females were successfully treated for infertility with either exogenous gonadotropins or long term pulsatile GnRH infusion. More recently, rare activating mutations of the kisspeptin and its receptor were identified in children with idiopathic central precocious puberty, supporting the crucial role of this system in the human pubertal onset. Kisspeptin is a potent excitatory regulator of the GnRH secretion, whereas the role of neurokinin B in the neuroendocrine control of the reproductive axis is still poorly understood. Interestingly, kisspeptin and neurokinin B are coexpressed in the arcuate nucleus in the mammalian hypothalamus, suggesting that these systems are closely related and potential partners of the regulation of the reproductive axis.
Assuntos
Neurocinina B/genética , Neurocinina B/fisiologia , Reprodução/genética , Reprodução/fisiologia , Transdução de Sinais/genética , Transdução de Sinais/fisiologia , Proteínas Supressoras de Tumor/genética , Proteínas Supressoras de Tumor/fisiologia , Sequência de Aminoácidos , Animais , Feminino , Gônadas/anormalidades , Humanos , Kisspeptinas , Masculino , Dados de Sequência Molecular , Puberdade Precoce/genética , Receptores Acoplados a Proteínas G/genética , Receptores Acoplados a Proteínas G/fisiologia , Receptores de Kisspeptina-1RESUMO
The gonadal arteries, lateral branches of the abdominal aorta, usually arise distal to the renal vessels. Knowledge of the origin and course of them, particularly their relationships with renal vessels, are important for uncomplicated surgical procedures on the posterior abdominal wall. So the relationship of the testicular artery and renal vessels were studied in 80 cadavers in Calcutta National Medical College, India and detected three rare variations. We have discussed the possible clinical implications and embryological explanation with review of literature of those variations.
Las arterias gonadales, ramas laterales de la aorta abdominal, usualmente surgen distales a los vasos renales. El conocimiento del origen y trayecto de estas, particularmente sus relaciones con los vasos renales, son importantes para procedimientos quirúrgicos sin complicaciones en la pared posterior del abdomen. La relación de la arteria testicular y los vasos renales fueron estudiados en 80 cadáveres en la Escuela Nacional de Medicina de Calcuta, India y se detectaron tres variaciones raras. Se discuten las posibles implicancias clínicas y explicaciones embriológicas, con la revisión de la literatura de estas variaciones.
Assuntos
Humanos , Masculino , Gônadas/anatomia & histologia , Gônadas/anormalidades , Gônadas/irrigação sanguínea , Rim/anatomia & histologia , Rim/anormalidades , Rim/irrigação sanguínea , Testículo/anatomia & histologia , Testículo/anormalidades , Testículo/irrigação sanguínea , Artérias/anatomia & histologia , Artérias/anormalidades , Índia , Veias Renais/anatomia & histologia , Veias Renais/anormalidadesRESUMO
Os termos pseudo-hermafrodita e intersexo são utilizados para se referir a animais com traços sexuais ambíguos. O diagnostico de pseudo-hermafrodita é baseado nos vestígios de gônadas e aspecto fenotípico do trato reprodutivo. Os pseudo-hermafroditas masculinos são aqueles que possuem somente testículo. Este trabalho relata um caso de pseudo-hermafrodita masculino em um suíno, cujo aparelho reprodutor foi colhido na linha de abate de um frigorífico. O animal, com idade de 150 dias e peso aproximado de 100 kg, possuía órgãos genitais exteriores femininos. O material coletado foi analisado macro e microscopicamente. Na análise macroscópica, verificou-se a presença de uma vulva anormal, ainda que a vagina e o útero (cérvix, corpo e cornos) apresentassem anatomia topográfica normal. As gônadas eram morfologicamente compatíveis com testículos, havendo também a presença dos epidídimos e do plexo pampiniforme. No exame histopatológico, confirmou-se que as gônadas apresentavam morfologia compatível com a de testículos, apresentando alterações degenerativas. Com base nos achados macroscópicos e microscópicos, concluiu-se que o animal era um pseudo-hermafrodita masculino.
The terms hermaphrodite and intersex are used to refer to animals with ambiguous sexual traits. The diagnostic of pseudo-hermaphrodites must be based on survey of the gonads and in the phenotypic aspect of the reproductive trait. The male pseudo-hermaphrodites have only testicle. This report describes a case of a male pseudo-hermaphrodite in a pig, whose reproductive organs were collected in a slaughterhouse. The pig was 150 days old, weighed nearly 100 kg, and showed external genitalia compatible with a female. The organs were evaluated grossly and microscopically. Grossly, the vulva showed abnormal morphology, but the vagina and the uterus (cervix, body, and horns) showed normal topographic anatomy. The gonads were morphologically compatible with testes with epididymis and pampiniform plexuses present. Histological examination of the gonads confirmed the identification of testes showing degenerative changes. Based on the gross and microscopic findings, the animal was diagnosed as a male pseudo-hermaphrodite.
Assuntos
Animais , Masculino , Transtornos do Desenvolvimento Sexual/veterinária , Suínos/anormalidades , Genitália/anormalidades , Gônadas/anormalidadesRESUMO
CONTEXT: Differentiation of testicular tissue in 46,XX individuals is seen either in XX males, the majority of them with SRY gene, or in individuals, usually SRY(-), with ovotesticular disorder of sex development (OT-DSD). Although they are sporadic cases, there are some reports on familial recurrence, including coexistence of XX maleness and OT-DSD in the same family. OBJECTIVE: We report on a case of SRY(-) 46,XX monozygotic twins with genital ambiguity. METHODS: Hormonal evaluation included testosterone, FSH, and LH measurements. SRY gene was investigated by PCR and two-step PCR in peripheral leukocytes and gonadal tissues, respectively. Direct DNA sequencing of the DAX-1 coding sequence was performed. Real-time PCR for SOX9 region on chromosome 17 was obtained. RESULTS: Both twins had a 46,XX karyotype. Twin A had a 1-cm phallus with chordee, penoscrotal hypospadias, and palpable gonads. Serum levels of FSH (2.34 mIU/ml), LH (8.8 mIU/ml), and testosterone (1.6 ng/ml) were normal, and biopsies revealed bilateral testes. Twin B had a 0.5-cm phallus, perineal hypospadias, no palpable gonad on the right, and a left inguinal hernia. Hormonal evaluation revealed high FSH (8.2 mIU/ml) and LH (15 mIU/ml) and low testosterone (0.12 ng/ml). Upon herniotomy, a right testis (crossed ectopia) and a small left ovotestis were found. SRY gene was absent in both peripheral leukocytes and gonadal tissue samples. Neither DAX-1 mutations nor SOX9 duplication was identified. CONCLUSIONS: This case provides evidence that both XX maleness and XX OT-DSD are different manifestations of the same disorder of gonadal development.
Assuntos
Disgenesia Gonadal 46 XY/genética , Gônadas/anormalidades , Transtornos Ovotesticulares do Desenvolvimento Sexual/genética , Proteína da Região Y Determinante do Sexo/genética , Gêmeos Monozigóticos/genética , Aberrações Cromossômicas , Receptor Nuclear Órfão DAX-1 , DNA/química , DNA/genética , Proteínas de Ligação a DNA/genética , Hormônio Foliculoestimulante/sangue , Genótipo , Disgenesia Gonadal 46 XY/sangue , Proteínas de Grupo de Alta Mobilidade/genética , Humanos , Recém-Nascido , Hormônio Luteinizante/sangue , Masculino , Transtornos Ovotesticulares do Desenvolvimento Sexual/sangue , Reação em Cadeia da Polimerase , Receptores do Ácido Retinoico/genética , Proteínas Repressoras/genética , Fatores de Transcrição SOX9 , Testosterona/sangue , Fatores de Transcrição/genética , Gêmeos Monozigóticos/sangueRESUMO
OBJECTIVE: To delineate the phenotypic spectrum (clinical and gonadal features) from patients with a 45,X/46,X,mar(Y) karyotype based upon of their clinical, histological, cytogenetic and molecular evaluation. SUBJECTS: Three patients with a 45,X/46,X,mar(Y) karyotype. METHODS: Clinical assessment, karyotyping, endocrine evaluation, FISH and PCR analyses of several Y-chromosome loci and direct sequencing of the SRY gene. RESULTS: The patients, two males and one female had varying degrees of impairment of sexual differentiation, with or without testis formation. One patient (reared as female and aged 17 years) had Turner syndrome with bilateral streak gonads. The second patient (2.4 years old) had ambiguous genitalia and presented a dysgenetic testis with a contralateral streak gonad. A third patient (26 years old) had bilateral dysgenetic testes (dysgenetic male pseudohermaphroditism). The ratio of 45,X vs. 46,X,+mar(Y) cells differed between patients and between different tissues. In each case the marker sexual chromosome was identified as a rearranged Y-chromosome (idic(Y)) using FISH and PCR analyses. In all cases the SRY gene was present in all tissues studied. No mutations were identified in this gene in any of the patients. CONCLUSIONS: The extent of male or female differentiation in these patients depends in part on the prevalence, time occurrence, and distribution of the 45,X cell line.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos X , Cromossomos Humanos Y , Gônadas/anormalidades , Diferenciação Sexual , Adolescente , Pré-Escolar , Transtornos do Desenvolvimento Sexual/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Fenótipo , Reação em Cadeia da Polimerase , Síndrome de Turner/genéticaRESUMO
An unnamed microcercous cercaria (Digenea: Monorchiidae), a parasite of Amiantis purpurata (Lamarck, 1818) (Bivalvia: Veneridae) and its corresponding metacercaria from the province of Buenos Aires and the Patagonian coast of the Southwest Atlantic Ocean, are described. The cercaria described in this paper differs from the three other monorchiid microcercous cercariae, i.e., Lasiotocus minutus (Manter, 1931), Lasiotocus elongatus (Manter, 1931), and Cercaria caribbea XXXVI Cable, 1956, mainly because of the extension of the excretory vesicle and the location of the ventral sucker. Cercariae artificially extracted from sporocysts encyst in a dish and form metacercariae enveloped by a gelatinous sac with two prolongations, which are used to adhere to the substratum. The monorchiid described in this paper has a life cycle similar to those of L. minutus and L. elongatus, although the adult stage of the present species is still unknown. Their larvae are similar in morphology and have venerid clams as their first hosts. The presence of a monorchiid larva is reported for the first time in the Southern Hemisphere. Its monthly prevalence rates, ranging from 0 to 25% (mean: 8.3%), are given from the Patagonian coast. The infection seems to cause castration as it was observed that during March through to May, when most gametes were produced in uninfected individuals, 81% of the infected individuals did not produce gametes.
Assuntos
Bivalves/parasitologia , Gônadas/parasitologia , Trematódeos/anatomia & histologia , Animais , Argentina , Gônadas/anormalidades , Larva/anatomia & histologia , Larva/ultraestrutura , Estágios do Ciclo de Vida , Prevalência , Trematódeos/fisiologia , Trematódeos/ultraestrutura , Infecções por Trematódeos/epidemiologiaRESUMO
Se realiza un estudio anatomoquirúrgico de la hernia inguinal iniciando el trabajo con una breve explicación del desarrollo embriológico de las gónadas, la formación de la bolsa escrotal definitiva y el descenso testicular. Se hace una revisión de la anatomía comparada, resumiendo las variaciones específicas en algunos mamiferos. Se describen las anomalias del desarrollo de las gónadas y del descenso testicular clasificando las anomalías. Se realiza un recuento histórico del tratamiento quirúrgico de las hernias a través de distintas épocas de la humanidad. Relación detallada de la anatomía quirúrgica de la región inguinofemoral, del trayecto inguinal y su mecanismo de funcionamiento. Por último se hace una revisión de la nomenclatura anatómica internacional y de la bibliografía consultada
Assuntos
Animais , Anatomia , Cirurgia Geral , Embriologia , Gônadas/anatomia & histologia , Gônadas/anormalidades , Hérnia Inguinal/cirurgia , Hérnia/cirurgia , Testículo/anormalidades , Testículo/embriologiaRESUMO
Se estudiaron 62 paientes en la Clínica de Intersexo del Hospital de Pediatría del Centro Médico Nacional de Occidente, IMSS, en Guadalajara, Jalisco, México. de enero de 1987 a mayo de 1991. Siete de ellos eran portadores de disgenesia gonadal mixta (DGM), y en ellos se investigaron antecedentes familiares, edad al momento de envío, sexo psicosocial establecido al nacer, fenotipo predominante, cariotipo y cromatina nuclear, hallazgos de la paratomía e histopatológicos. tratamiento quirúrgico reconstructivo y asignación sexual definitiva. El diagnóstico de envío en todos los pacientes que ambigüedad de genitales externos, y el promedio de edad en ese momento fue de 12 meses. Todos los pacientes resultaron negativos a la cromatina; en cuatro de ellos el cariotipo fue 45X0/46XY (15.14 por ciento), en dos 46XY(28.57 por ciento) y en uno era un mosaico de mayor complejidad, 45XO/47XYY (14.28 por ciento). En seis pacientes se encontró testículo disgenético en un lado y estría ovárica en el otro; sólo en un paciente hubo testículo único. La asignación sexual al nacimiento fue la misma que la sexual definitiva, a pesar de que dos pacientes debieron reasignarse sexualmente; los aspectos que lo impidieron fueron edad avanzada al momento de envío, sexo psicosoial previo y rechazo de los padres. Todos los pacientes se sometieron a laparotomía exploradora con extirpación gonadal, por el riesgo de malginización. En tres pacientes se realizó genitoplastia feminizante que consintió en clitororreducción y vaginoplastia en un sólo tiempo quirúrgico. En los asignados como masculinos, se ralizaron cura de hipospadias y colocación de prótesis testiculares. En este artículo se pone de manifiesto la necesidad de establecer un diagnóstico temprano que permita realizar una asignación sexual adecuada, de conformidad con el criterio del mejor fenotipo predominante.
Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Disgenesia Gonadal Mista/cirurgia , Gônadas/anormalidades , Transtornos do Desenvolvimento Sexual/cirurgia , Caracteres Sexuais , Identidade de Gênero , Disgenesia Gonadal Mista/genética , Gônadas/cirurgia , Transtornos do Desenvolvimento Sexual/genéticaRESUMO
Twenty-five patients with Turner Syndrome were treated with oxandrolone for six or more months. Mean growth velocity for the first year of treatment was significantly greater than pretreatment control growth velocity. Overall, there was no excessive skeletal maturation. Mean "final" height in nine XO patients (146.4 cm) was significantly greater than mean adult height of an estrogen-treated control group (140.3 cm), while that for five mosaic patients (148.2 cm) was not significantly different from a mean untreated mosaic adult height (145.2 cm).