Search results for "gonad"

CASO CLINICO: triplicazione del gene SHOX in un paziente con disgenesia gonadica mista e mosaicismo 46,X,i(Y)(p10)[94]/45,X[13]

2021

PRESENTAZIONE DEL CASO, STORIA CLINICA E SINTOMATOLOGIA Descriviamo il caso di un bambino di 2.5 anni con bassa statura, altezza 84cm (-2DS), SPAN 82.5cm, peso 10 kg (-2.5DS). Nato SGA (EG:40.5), con p.c.: 2480 g (-2.44DS), lunghezza: 47cm (-1.64DS), c.c.: 33 cm (-1.84DS).Stadio PH1G1, volume testicolare: 2 ml con genitali esterni normo-conformati. Era stato sottoposto ad amniocentesi, con diagnosi prenatale di disgenesia gonadica mista associata a cariotipo a mosaico 45,X[25]/46,X,i(Y)[18]. IPOTESI DIAGNOSTICHE • deficit accrescitivo in nato SGA • bassa statura da SHOX-D • ritardo della crescita costituzionale o secondario a malassorbimento INDAGINI DI I E II LIVELLO Per la ridotta velocit…

The Peculiarities of Gonad Transformation in Teleosts

1983

In teleosts the problem of sex determination and sex differentiation is more puzzling than in other vertebrates. It is not known whether the intriguing variety in the conditions of sex results from the position of these fishes within the vertebrate pedigree. They represent the final products of actinopterygian evolution toward the end of the age of reptiles, that is late in the Jurassic era. However, with that evolutionary fact in mind it is more plausible that teleosts deviate in many ways from the pattern that we are used to attribute to vertebrates in general. The following features of sex differentiation are striking examples of teleost peculiarity: (1) In both sexes there is no morphol…

The Wilms' tumor suppressor gene (wt1) product regulates Dax-1 gene expression during gonadal differentiation.

1999

Gonadal differentiation is dependent upon a molecular cascade responsible for ovarian or testicular development from the bipotential gonadal ridge. Genetic analysis has implicated a number of gene products essential for this process, which include Sry, WT1, SF-1, and DAX-1. We have sought to better define the role of WT1 in this process by identifying downstream targets of WT1 during normal gonadal development. We have noticed that in the developing murine gonadal ridge, wt1 expression precedes expression of Dax-1, a nuclear receptor gene. We document here that the spatial distribution profiles of both proteins in the developing gonad overlap. We also demonstrate that WT1 can activate the D…

Aberrant gene expression profiles in Mediterranean sea urchin reproductive tissues after metal exposures

2019

Abstract Marine organisms are simultaneously exposed to numerous pollutants, among which metals probably represent the most abundant in marine environments. In order to evaluate the effects of metal exposure at molecular level in reproductive tissues, we profiled the sea urchin transcriptional response after non-lethal exposures using pathway-focused mRNA expression analyses. Herein, we show that exposures to relatively high concentrations of both essential and toxic metals hugely affected the gonadic expression of several genes involved in stress-response, detoxification, transcriptional and post-transcriptional regulation, without significant changes in gonadosomatic indices. Even though …

Physiology and Pathology of Ovarian Hyperstimulation Syndrome

2010

Ovarian hyperstimulation syndrome (OHSS) occurs when ovaries primed with follicle-stimulating hormone/leuteinizing hormone (LH) are subsequently exposed to human chorionic gonadotropin (hCG). The ultimate pathophysiological step underlying this clinical picture is increased vascular permeability (VP). With the administration of hCG, the expression vascular endothelial growth factor (VEGF) and VEGF receptor 2 (VEGFR-2) mRNA increases significantly rising to a maximum coinciding with peaked VP. Immunohistochemistry shows the presence of VEGF and VEGFR-2 proteins in the granulosa-lutein and endothelial cells of the entire corpus luteum. These findings suggest that the syndrome can be prevented…

Valoración de la afectación de la reserva ovárica tras criopreservación de tejido ovárico y tratamiento oncológico: papel destacado de la hormona ant…

2016

INTRODUCCIÓN Identificación del problema: antecedentes y estado actual El uso de quimioterapia y radioterapia en el tratamiento oncológico puede comprometer la función ovárica de la mujer, sobre todo el aquellos casos de niñas o mujeres jóvenes que aún no han llegado a plantearse descendencia en el momento del diagnóstico del cáncer. Se estima que 1,5 millones de hombres y mujeres fueron diagnosticados de cáncer en 2010, y que de este grupo, el 10% son menores de 45 años y el 1% menores de 20 años. Los cánceres más frecuentemente diagnosticados en adultos entre 20 y 44 años en EEUU son el cáncer de mama, linfoma, melanoma y leucemia.En nuestro país, las enfermedades malignas alcanzan a una …

Differenzierung zwischen prämaturer Thelarche und Pubertas praecox anhand klinischer, hormoneller und radiologischer Befunde

2008

In a retrospective study of 39 girls (aged 10 months to 7 10/12 years) with premature breast development criteria for distinguishing between premature thelarche and precocious puberty were analysed. Serum estradiol levels and bone age were determined and a test with luteinizing hormone-releasing hormone (LHRH) performed (inclusion criteria). On the basis of the LHRH test and bone age, premature thelarche was diagnosed in 29 patients and precocious puberty in ten: while those with premature thelarche had a follicle-stimulating hormone (FSH) pattern of rise, in those with precocious puberty the rise in gonadotropin was of the LH type. The LH/FSH ratio 30 min after stimulation was 1 (median 2.…

2002

Analysis of gonad organization and development revealed that Serranus atricauda is a functional simultaneous hermaphrodite. The ovary is classified as asynchronous. Oocyte growth is divided into five stages: stage I (primary growth stage), stage II (yolk vesicle formation), stage III (vitellogenesis), stage IV (oocyte maturation) and stage V (mature egg). The testis is of the unrestricted or lobular spermatogonial type. Spermatogenic cells include spermatogonia, primary and secondary spermatocytes, spermatids (which form cysts in the seminiferous tubules) and spermatozoa (free in the lumen). The histological structure of the gonad and sperm morphology would seem to indicate that this specie…

Isolation of Zebrafish Gonads for RNA Isolation

2013

Piwi proteins and piRNAs are abundant in the gonads of various animal species. Gonads from different developmental stages provide us information regarding the function of piRNAs and the PIWI pathway during germline development. Here we describe methods for gonad and germ cell preparation from different developmental stages of zebrafish. We also describe how to use these gonads to purify and characterize piRNAs.

Sugar moiety has a direct influence on the secondary structure and properties of sturgeon gonadotropin

2009

Sugar moiety has a direct influence on the secondary structure and properties of sturgeon gonadotropin Sturgeon Acipenser güldenstädti Br. gonadotropic hormone (GTH) β-subunit (β-GTH) was selectively chemically deglycosylated (dg) by anhydrous hydrogen fluoride and trifluoromethane sulfonic acid. Two dgβ-GTH molecular forms retaining 35% (dgβ-GTH1) and 13% (dgβ-GTH2) of their initial carbohydrates were obtained. Investigation of the reassociated α-β hybrid dimers (recombinants) α-GTH+dgβ-GTH1 and α-GTH+dgβ-GTH2 showed that the immunoreactivity with antiserum raised against standard GTH dropped by 22.5%. Hybrid dimers were recognised by the standard GTH antibodies, which indicated that the s…