La Sindrome di Turner è la più frequente disgenesia gonadica a espressione fenotipica femminile. La Sindrome di Turner nella forma classica, è caratterizzata da amenorrea primaria, dalla presenza di gonadi rudimentali, infantilismo sessuale alla pubertà, bassa statura e anomalie congenite multiple. L’anomalia è riscontrata in circa il 20% degli aborti spontanei che si verificano nel primo trimestre di gravidanza. La mancanza del cromosoma X può essere dovuta sia alla perdita del cromosoma durante la gametogenesi, sia a un errore mitotico durante una delle suddivisioni precoci che avvengono nello zigote fecondato. Circa la metà delle pazienti possiede cariotipo 45,X, mentre circa un quarto di esse mostra un mosaicismo senza anomalie cromosomiche strutturali (46,XX/45,X). Infine un quarto dei soggetti affetti da sindrome di Turner possiede un cromosoma X strutturalmente anormale (isocromosoma X,X ad anello, delezione parziale del braccio lungo o del braccio corto di X) con o senza mosaicismo. La sindrome di Turner è dovuta nei due terzi dei casi a perdita del cromosoma X paterno e solo nel 20% dei casi di quello materno. Non esiste alcuna correlazione tra età materna e comparsa della malattia. La bassa statura e le altre anomalie somatiche caratteristiche della sindrome di Turner sono conseguenti alla perdita di materiale genetico del braccio corto del cromosoma X, mentre i loci cromosomici la cui monosomia è responsabile della mancata maturazione gonadica sono tre, due sul braccio lungo e uno sul braccio corto del cromosoma X. La presenza di un doppio dosaggio allelico in questi loci appare essere indispensabile per un normale sviluppo della gonade femminile. In presenza del cariotipo 45,X durante l’embriogenesi l’abbozzo gonadico si forma con un numero di ovociti non particolarmente ridotto, ma l’atresia dei follicoli primordiali e primari è così accelerata e massiva che il loro numero è quasi totalmente azzerato alla nascita.
Quadro clinico
Le caratteristiche cliniche con le relative frequenze dei soggetti affetti da Sindrome di Turner.
Le stigmate somatiche sono rappresentate da:
statura
collo corto e palmato (pterigium colli)
micrognazia
epicanto
torace a scudo
valgismo del gomito
brevità abnorme del quarto metacarpo
unghie ipoplasiche
palato ogivale
orecchie sporgenti e impiantate in basso
attaccatura bassa dei capelli.
L’insieme di queste malformazioni conferisce al volto delle pazienti con sindrome di Turner un caratteristico aspetto il cosiddetto volto a sfinge.
In alcuni soggetti si riscontrano anomalie congenite a carico del cuore e dei vasi, in particolare:
stenosi aortica
coartazione aortica
anomalie a carico del rene
rene a ferro di cavallo
A livello cutaneo:
nevi pigmentati
tendenza alla formazione di cheloidi
La maturazione scheletrica è normale o modestamente ritardata durante l’infanzia, ma è deficitaria durante l’adolescenza come conseguenza del deficit gonadico di steroidi. Spesso lo scheletro presenta aree di rarefazione, soprattutto alle mani, i piedi, ai gomiti e alla porzione superiore del femore. I pazienti non trattati con terapia estrogenica sostitutiva possonono sviluppare una severa osteoporosi. Frequenti sono anche lesioni similosteocondrosiche della colonna vertebrale e la scoliosi. Nei soggetti con sindrome di Turner sono descritte numerose associazioni con difetti di origine autoimmune quali:
diabete mellito
tiroide linfocitaria cronica
artrite reumatoide
obesità
ipertensione arteriosa
artrite reumatoide
l’otite media recidivante
Nelle prime fasi di vita è frequente il riscontro di linfedema al collo, alle mani e ai piedi che, a volte, può costituire l’unico elemento per cui sospettare una sindrome di Turner. Tale linfedema regredisce spontaneamente nel tempo. Alla nascita queste bambine mostrano un peso inferiore alla media e un deficit della crescita staturale. La velocità di crescita può essere normale nelle prime fasi della vita, per poi ridursi drasticamente dai 8 anni in poi, e l’altezza finale risulta in media attorno ai 142 cm (range 132-152).
Le tube di Falloppio sono normalmente presenti, ma iposviluppati in conseguenza della ridotta produzione estrogenica da parte del rudimenti gonadici. Le gonadotropine circolanti, soprattutto l’ormone follicolostimolante (FSH), sono elevate. I valori di FSH presentano tipico andamento bifasico. L’FSH è, infatti, molto elevato nei primi 2-4 anni di vita, si riduce quindi dai 6 ai 10 anni (insieme valori di LH) raggiungendo livelli vicini alla normalità, per poi aumentare di nuovo. I valori di a AMH sono bassi/insondabili indicandola ridotta/assente riserva follicolare ovarica.
In circa il 70% dei casi soprattutto quelli con cariotipo 45,X o associati ad anomalie del secondo X, è presente amenorrea primaria. Negli altri casi è invece possibile osservare una pubertà spontanea seguita a volte da cicli regolari con ovulazione anche per alcuni anni. L’amenorrea secondaria con ulteriore deviazione FSH e azzeramento dell’ AMH circolante viene raggiunta entro i 25 anni di vita. Un vero e proprio ritardo mentale è presente solo nel 11- 17% dei casi con sindrome di Turner. Di frequente riscontro sono alcuni deficit conoscitivi, soprattutto il riconoscimento delle dimensioni dei rapporti dimensionali dagli oggetti. Sono frequenti disturbi della visione dei colori fino al daltonismo.
Diagnosi e terapia
La diagnosi di certezza si fonda sul reperto delle tipiche anomalie del corredo cromosomico.
Sono elementi di sospetto clinico:
bassa statura (2,5 deviazioni standard sotto il valore medio per età)
ritardo puberale in presenza di elevati livelli di gonadotropine plasmatiche e urinarie
Obiettivi della terapia della sindrome di Turner sono:
la correzione dell’ infantilismo
la correzione della bassa statura
inserimento nella vita sociale.
La terapia sostitutiva con estrogeni deve essere a dosi sufficienti da rimuovere l’infantilismo e da promuovere la crescita, ma tale da non indurre precoce saldatura delle cartilagini epifisarie. L’ideale sarebbe mimare la normale secrezione estrogenica nel corso dello sviluppo. L’orientamento terapeutico attuale prevede la somministrazione di estrogeni (etinilestradiolo), utilizzando dosi di 0,1 mcg/die e in età prepuberale passante 5 mcg/die in età peripuberale, raddoppiando il dosaggio dopo i 13-14 anni con l’aggiunta ciclica di progesterone e passando successivamente a una terapia con estroprogestinici. Tale terapia garantisce il mantenimento delle caratteristiche sessuali secondarie, la comparsa irregolare della mestruazione e la prevenzione dell’osteoporosi.
Le informazioni contenute in questo sito non devono in alcun modo sostituire il rapporto medico-paziente; si raccomanda di chiedere il parere del proprio medico prima di mettere in pratica qualsiasi consiglio o indicazione riportata.
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Og det gjorde denne frederikshavner altså i Føtex på Rådhus Allé i Frederikshavn, så nu er spilleren millionær. DR har nemlig lavet en aftale med Danske Spil om at stoppe transmissionerne fra de direkte lottotrækninger. “Efter det seneste års kanalomlægninger i DR har vi også ønsket at kigge lidt nærmere på, om de faste formater på DR1’s sendeflade er tidssvarende og up to date. Her har vi ment, at det er lang tid at bruge 10 minutter på lottotrækningen. DR vil imidlertid gerne stadig give seerne den service, og derfor bliver det lige efter TV-Avisen, at de fremover kan få tallene,” siger Pil Gundelach Brandstrup, der er kanalchef på DR1 i en pressemeddelelse. Lottotal og alt andet lotto til danske spillere ”Her fra Danske Spil skal der lyde et kæmpestort tillykke til ugens heldige vindere. Vi synes, det er en fest hver gang, at en dansker vinder i vores lotterier, også selvom det sker hver eneste uge hele året rundt,” siger fra Malene Mølgaard, der er adm. direktør i Danske Lotteri Spil, som står bag Lotto, i en pressemeddelelse.
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It’s the first of 152 Phillies regular-season games set to air on the NBC family of networks this season, with 135 on NBC Sports Philadelphia, 12 on NBC10 and five on NBC Sports Philadelphia+. In his start against the Braves Thursday — following a rain out — the Phillies ace pitched like one, allowing just two hits. The Phillies offense was nowhere to be found, however, as the Phils eventually imploded in extra innings for the costly loss. Bet Now: Get the latest odds for this matchup and pitcher props on BetMGM. New depositors can use bonus code “GNPLAY” for special offers! Paul Sullivan of the Chicago Tribune noted that the game is on as of this afternoon, but the league and players union will have the final say on a postponement. Looking to place a prop bet on Jared Young? Check out what’s available at BetMGM and use bonus code \”GNPLAY\” when you sign up with this link!
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The highest-grossing movie in the history of cinema travels to home video realms to forever remind viewers how to create a mega-entertaining superhero film in Avengers: Endgame – Cinematic Universe Edition (Walt Disney Studios Home Entertainment, rated PG-13, 181 minutes, 2.39:1 aspect ratio, $39.99). Presented in a 4K transfer, the film looks spotless, with no signs of noise or grain, and is complemented by a room-shaking DTS soundtrack. While the technical presentation is top-notch, the extras are pretty lacking for a movie of this scope and impact. But don’t press that Play button just yet. Before you watch the scene in 4K HDR, check out the same sequence in the HD version. It’s epic, to be sure, even in Blu-ray quality. The battlefield feels immense. The shadows that hang over the sundered pile of rubble where Avengers HQ once stood are deep and inky. The layer of grime and streaks of blood marring Cap’s face are tangible and perfectly textured. Once you’ve soaked in all of that and gotten a good reminder of what state-of-the-art home video looked like barely more than three years ago, switch over to the 4K HDR version and prepare to have your hair blown back.
Gov. Cooper signed the state’s online sports betting bill into law on June 14, 2023. By law, North Carolina regulators had one year to launch sports betting from the day Cooper signed the bill. Live sports betting has been growing in popularity in recent years as bettors can place wagers during their favorite games and contests. Let’s break down what live sports betting is, how it works, and more for those of you who… YoniBet, which has been making waves as one of the best Quebec online betting sites, offers a generous welcome bonus bet of up to $50 for new members. Open to new customers only, this promo requires a minimum bet of £5 and a maximum bet of £30 on your first accumulator bet. If this acca is a loser, Betway will give you a matched free bet.
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There will be another exciting UFC event happening this weekend when Israel Adesanya goes up against Alex Pereria on Saturday night. Almost all retail and online sportsbooks will let you bet on UFC events. Log into BookMaker Sportsbook and get the best MMA Betting Odds, MMA Betting Articles and information about this and all other sports betting events! The evening will feature plenty of noteworthy fights you can bet on at the best online sportsbooks, including a rematch for the bantamweight title between Sean O’Malley and Marlon Vera. While this fight will be close, Yan is the better striker, which should lead to him winning via decision (+140). With thirteen fights scheduled, there are plenty of opportunities to bet on UFC on ESPN 56: Lewis vs. Nascimento. If you are looking to get in on the action and are looking for a sportsbook to place a bet on, we’ll show you how to set up an account at the best sportsbook – Betwhale.
Resumo algunos consejos prácticos que puedes aplicar si tu perfil no está creciendo: lnkd.in e57HhWin Recibe nuestras novedades en libros en tu email Son muchas las empresas que buscan nutrir sus perfiles en redes sociales de un buen número de seguidores. La idea suena apetecible pero, ¿sirve de algo tener muchos seguidores? Pues depende. Si son seguidores de calidad, sirve de algo pero si son comprados, de absolutamente nada. La forma de interactuar con la audiencia en Pinterest es diferente. Es por esto que cuando se habla de crecer en Pinterest, no se habla tanto de incrementar seguidores. Actualmente Instagram cuenta con más de 1.000 millones de usuarios activos, por dicho motivo es un canal fundamental de comunicación para marcas, empresas y emprendedores. Esta red social es la más frecuentada en el mundo virtual por ello su utilización y gestión no puede faltar en ninguna estrategia de Marketing. Pero para hacer llegar tu contenido a tu público objetivo y crear verdaderas oportunidades de negocio es necesario saber cómo conseguir más seguidores en tu Instagram. A continuación te dejamos las técnicas más efectivas:
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Varios usuarios han reportado que no pueden escuchar las historias de Instagram, esto a pesar de que no le han movido nada a su teléfono. Aun así, la cámara de Instagram tiene unas limitaciones porque debe adaptarse a la cámara de cada dispositivo móvil. Desde un iPhone no se nota tanto porque tiene mejor procesador. Por lo tanto, la recomendación para tener la máxima calidad es subir la foto o vídeo desde la galería. De este modo introducen esta acción de Instagram como una acción más de sus estrategias de marketing digital. Redes sociales: Vamos a ver primero la opción con más potencial, pues hacer repost de un post a Instagram Stories, además de directo y sencillo, es uno de nuestros mejores hacks para hacer nuestras historias más atractivas. Sin embargo, quizás porque es algo que la red social no permitía hasta hace no mucho sin la ayuda de herramientas, una duda muy común es cómo hacer repost en Instagram y en las historias. Y de eso, precisamente, te hablamos en este post.
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