SALUTE

Criptorchidismo


Malattie neonatali
Criptorchidismo

Che cos’è il criptorchidismo?

Il termine criptorchidismo deriva dal greco (κρυπτος, nascosto, e όρχυς, testicolo)  e indica una condizione in cui si ha la mancata discesa di uno o di entrambi i testicoli nel sacco scrotale. Questa situazione è effettivamente patologica quando il testicolo è stabilmente assente dalla borsa scrotale oltre i 6 mesi di vita del bambino, cioè quando quest’ultimo ha raggiunto lo sviluppo. La valutazione non può essere effettuata subito dopo la nascita perché esiste la possibilità che la discesa del testicolo nella borsa scrotale non sia stata ancora completata, specie se il nascituro è prematuro, ma potrebbe completarsi entro il sesto mese. Qualora invece il testicolo è retrattile, ed è solo saltuariamente assente dalla borsa scrotale e non si può parlare di una condizione patologica.

 

Epidemiologia

 

Oggi l’incidenza del criptorchidismo è aumentata, non tanto per le cause genetiche, quanto per le cause endocrine legate all’inquinamento:

  • 3% alla nascita
  • 1% a tre mesi
  • 30% nei prematuri, dovuta al fatto che nel prematuro non si completa la maturazione e quindi il criptorchidismo si può associare anche ad altre condizioni come ad esempio la mancata chiusura del dotto peritoneo vaginale, con il 20% di ernie inguinali in più rispetto ai nati a termine. Nei prematuri i tempi minimi di attesa per l’intervento devono essere corretti con l’età gestazionale rispetto a quelli dei nati a termine​.


Considerando i dati epidemiologici e le conoscenze embriologiche  non c’è motivo di intervenire prima dei sei mesi di vita se non informando la famiglia del bambino della situazione. Questo tempo consente l’eventuale discesa in ritardo del testicolo. Se questo si verificasse sarebbe comunque opportuno mantenere sotto controllo la situazione con visite periodiche. Se ciò non si dovesse verificare  allora si potrà programmare l’intervento intorno al 9-12° mese.

Cause

La causa del criptorchidismo è multifattoriale e talvolta difficile da individuare. I meccanismi eziopatogenesi possono essere ormonali, genetici e/o meccanici. 

Cause endocrine:

  • alterazione dell’asse ipotalamo-ipofisi-gonadi;
  • alterazione della produzione delle gonadotropine e dell’adenoipofisi;
  • difetti della sintesi di androgeni e dei recettori androgetici.

Cause meccaniche: tra le cause meccaniche rientrano tutte quelle condizioni in cui la parete addominale non si sviluppa correttamente e non può contribuire con un’adeguata spinta, alla discesa testicolare:

1. Con bassa pressione intraddominale:

  • la sindrome di Prune-belly (del ventre a prugna) condizione di deficit della parete muscolare che non garantisce la spinta testicolare
  • onfalocele

2. Con alta pressione intraddominale:

  • le valvole dell’uretra determinano un’ importante distensione della vescica che può diventare un ostacolo per la discesa del testicolo nel canale inguinale;
  • per la rottura del gubernaculum

Cause genetiche:

  • difetti del connettivo
  • anomalie neurologiche
  • mielomeningocele e displasia del nervo genitofemorale
  • anomalie GEN/CGRP 
  • anomalie acquisite
  • paralisi cerebrale che determina spasticità cremasterica 


Fattori d rischio

  • Fattori genetici (il criptorchidismo si associa sindromi genetiche nel 10-20% dei casi;
  • Klinefelter
  • Trisomia
  • Sindrome di Prune-belly 

Fattori ambientali

  • sostanza con effetto estrogenico anti-androgeni come gli ftalati, contenenuti nella plastica persino dei biberon, il bisfenolo A, fertilizzanti chimici, estrogeni presenti nel latte e nella carne. Proprio per questo ci sono delle zone con marcato inquinamento in cui l’incidenza di questa patologia è più elevata, e si accompagna anche ad altre patologie genitali, come l’ipospadia e altri disordini dello sviluppo dei caratteri sessuali secondari.

Altri fattori

  • prematurità
  • gemellarità
  • diabete in gravidanza (da verificare con ulteriori studi)
  • fumo (ha un impatto notevole, già confermato da studi di tipo osservazionale
  • alcol, il consumo moderato può ridurre il rischio (da verificare con ulteriori studi)
  • caffè

L’esposizione a più fattori aumenta notevolmente il rischio di malattia.

 

Aspetti clinici

Clinicamente esistono quattro possibilità:

  1. condizione fisiologica, in cui entrambi i testicoli sono nella borsa scrotale;
  2. criptorchidismo congenito in cui uno ( più frequentemente il destro) o entrambi i testicoli non hanno completato la discesa fino allo scroto e si sono arrestati o in addome o nel canale inguinale, quindi la borsa scrotale è totalmente piatta perché mai occupata.
  3. criptorchidismo acquisito, in cui un testicolo che alla nascita aveva occupato la borsa scrotale può risalire nel canale inguinale per il mancato allungamento del funicolo. Risalita vuol dire che il testicolo, che prima si sentiva nella borsa scrotale e che non ha una perfetta fissazione al fondo della sacca scrotale con il gubernaculum, con la crescita e il mancato sviluppo consensuale del funicolo spermatico torna nel canale inguinale.
  4. testicolo retrattile o “in ascensore”, è una condizione assolutamente non patologica, in cui il muscolo cremasterico si contrae in maniera troppo vivace, per cui anche minimi stimoli (riso, movimento, solletico) determinano lo svuotamento della borsa scrotale, ma non appena questi scompaiono il testicolo torna nella posizione normale. In questa situazione la borsa scrotale non è affatto piatta, ma sformata. Nonostante questa condizione sia normale, deve essere comunque tenuta sotto controllo perché potrebbe predisporre all’insorgenza delle forme acquisite.


Complicanze

Effetti sulla fertilità:

  • la fertilità  risulta compromessa nelle forme bilaterali mentre invariata nelle forme monolaterali perché il testicolo sano dovrebbe compensare. La zoospermia è riportata nell’ 89% dei casi di criptorchidismo bilaterale non trattato, si riduce della metà se è trattato ed è solo del 13% nel criptorchidismo monolaterale trattato. Nonostante quanto detto è importante intervenire precocemente anche nelle forme monolaterali, perché se i testicoli vengono portati nello scroto in età avanzata, di 8-9 anni (come accadeva negli anni 70-80) vanno incontro ad una grande involuzione. Questo colpisce prima di tutto le cellule esocrine e porta all’ipertrofia, infine alla sclerosi, la cosiddetta sindrome delle cellule del Sertoli, cellule di sostegno che sono le uniche che rimangono.
  • degenerazione neoplastica dovuta alla segregazione di cellule staminali indifferenziate che possono andare incontro a rapida proliferazione e sviluppo tumorale (solitamente seminoma). Il rischio di tumore al testicolo dovuta al criptorchidismo è da 5 a 10 volte maggiore rispetto alla popolazione generale ed è tanto più alto quanto più l’arresto della discesa è precoce, quindi con testicolo intraddominale. Nonostante l’intervento chirurgico, la degenerazione neoplastica rimane un evento possibile, quindi il paziente va controllato fino all’età adolescenziale. Il rischio dopo orchidopessi è notevolmente ridotto perché il testicolo riportato nello scroto non sarà più sottoposto a calore, traumi e altri stimoli che possono indurre la trasformazione neoplastica.
  • impatto psicologico


Terapia

 L’intervento non viene effettuata a 6 mesi perché le strutture sono molto fragili, ma viene programmato a 9 e 10 mesi, non più tardi perché diventa indispensabile bloccare i meccanismi di alterazione secondari all’effetto meccanico e termico che danneggiano la spermatogenesi.

Trattamento criptorchidismo-Wikipedia 

 

 

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