Sindromul secțiunii de tijă hipotalamo-hipofizară

Perspective

Ca urmare a progresului înregistrat în tehnologiile de bioinformatică şi secvenţiere, secvenţierea următoarei generaţii a fost utilizată pentru diagnosticul tulburărilor mendeliene [60]. Cu toate acestea, este general acceptat faptul că secvenţierea Sanger este cel mai fiabil test pentru a confirma mutaţiile, deoarece rezultatele secvenţierii următoarei generaţii pot include erori. Mai mult, strategia actuală de analiză pentru secvenţierea următoarei generaţii se axează, în principal, pe medicamente ţintă tumorale sau pe tulburări genetice unice şi nu este adecvată pentru bolile rare.

Deoarece SSTH este un defect aleatoriu cu o prevalenţă extrem de scăzută şi caracteristicile clinice ale pacienţilor din diferite ţări pot varia, ar trebui construite baze de date internaţionale pentru toate cazurile documentate. Aplicarea instrumentelor de genetică şi bioinformatică de ultimă generație va fi importantă pentru a determina etiologia moleculară a SSTH şi pentru a ajuta la diagnosticul şi tratamentul acestei tulburări rare. Se propune ca efectele multigenice să joace un rol în etiologia SSTH, iar studiile curente nu oferă indicii funcţionale ale genelor raportate. În studiile viitoare, testarea efectelor sinergice pe un model animal va fi o alegere ideală în ceea ce priveşte înţelegerea patogenezei SSTH.

Concluzii

Sindromul de secţiune a tijei hipotalamo-hipofizare este un defect rar manifestat prin deficitul hormonilor hipofizari. Trebuie acordată atenţie în perioada neonatală şi în copilărie pentru a permite o diagnosticare precoce a SSTH pe baza datelor clinice şi a caracteristicilor tipice observate prin examinarea RMN. Cea mai comună prezentare a SSTH este întârzierea creşterii după o anumită vârstă. Evenimentele perinatale combinate cu mutaţii genetice în căile de dezvoltare embriologică importante precum Wnt, Notch şi Shh pot contribui sinergic la patogeneza SSTH. Sunt necesare studii funcţionale suplimentare pentru a descoperi etiopatogeneza SSTH.

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Dr. Elena-Iuliana Pascu

medic specialist endocrinologie
Sanamed Hospital Bucureşti