Endocrinological assessment of infants with cryptorchidism and hypospadias
DOI:
https://doi.org/10.13112/pc.1205Keywords:
Hypospadias; Cryptorchidism; Disorders of Sex Development; Endocrinology; Pathology, MolecularAbstract
Hipospadija i kriptorhizam predstavljaju česte kongenitalne anomalije muškog spolnog sustava koje, kada se javljaju zajedno, osobito u težim oblicima, mogu upućivati na poremećaj diferencijacije spola (DSD). Endokrinološka obrada ove dojenčadi ključna je za razlikovanje izoliranih anatomskih varijanti od manifestacija složenih endokrinih ili genetskih poremećaja koji zahtijevaju specifičan dijagnostički i terapijski pristup. Diferencijacija spola u muškom smislu složen je proces ovisan o koordiniranoj aktivnosti brojnih gena i hormona tijekom kritičnih razdoblja embrionalnog razvoja. Poremećaji u bilo kojoj fazi tog procesa mogu rezultirati hipospadijom, kriptorhizmom ili njihovom kombinacijom. Inicijalna procjena uključuje detaljan klinički pregled s objektivnom procjenom stupnja maskulinizacije vanjskog spolovila, idealno uz primjenu standardiziranih sustava bodovanja. Posebnu pažnju zahtijevaju klinički znakovi visokog rizika poput bilateralno nepalpabilnih gonada, teške proksimalne hipospadije, mikropenisa ili hiperpigmentacije spolovila.
Hormonska evaluacija treba biti vremenski optimizirana kako bi se iskoristio dijagnostički prozor „mini-puberteta“ u prva 3-6 mjeseci života, kada su fiziološki povišeni gonadotropini i spolni hormoni. Bazalna hormonska procjena uključuje određivanje LH, FSH, testosterona, AMH-a i inhibina B, dok se u slučaju sumnje na specifične poremećaje steroidogeneze određuju dihidrotestosteron, androstendion i 17-hidroksiprogesteron. Izvan razdoblja mini-puberteta potrebna je primjena stimulacijskih testova. Kariotipizacija i molekularna analiza predstavljaju temeljne dijagnostičke postupke, pri čemu primjena NGS DSD panela i sekvenciranja cijelog egzoma omogućuje postavljanje etiološke dijagnoze u značajnom udjelu slučajeva. Slikovne pretrage, ponajprije ultrazvuk zdjelice, koriste se za procjenu prisutnosti i položaja gonada te identifikaciju unutarnjih genitalnih struktura.
Multidisciplinarni pristup, uključujući pedijatrijskog endokrinologa, urologa, kliničkog genetičara i psihologa, neophodan je od najranije faze obrade. Odluke o određivanju spola moraju biti individualizirane i temeljene na dijagnozi, prognozi spolne funkcije i fertilitetnom potencijalu. Dugoročno praćenje potrebno je provoditi u specijaliziranim centrima u kojima su formirani posebno educirani multidisciplinarni timovi, proteže se do odrasle dobi i obuhvaća praćenje reproduktivne funkcije, psihoseksualnog razvoja te rizika od gonadnog maligniteta.
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