Stereološka obilježja sjemenskih kanalića neplodnih muškaraca s kromosomskim i genskim oštećenjima

master's thesis

• Title (english): Stereological properties of seminiferous tubules in infertile men with chromosomal and gene abnormalities
• Author: Mislav Mokos
• Mentor: Davor Ježek (mentor)
• Committee member: Ana Katušić Bojanac (predsjednik povjerenstva)
• Committee member: Dinko Mitrečić (član povjerenstva)
• Committee member: Davor Ježek (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Histology and Embryology); Zagreb
• Defense date and country: 2023-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Cytology, Histology and Embryology

Abstract

Kromosomska i genska oštećenja odgovorna su za 15%-30% slučajeva neplodnosti muškaraca. Cilj ovoga rada bio je odrediti stereološka obilježja sjemenskih kanalića u neplodnih muškaraca s Klinefelterovim sindomom (KS), mikrodelecijom Y kromosoma (MYK) i mutacijom gena CFTR (CFTR) te ih usporediti s opstruktivnom azoospermijom (OA) nenasljednog podrijetla (kontrolna skupina). Za ovo istraživanje analizirano je 33 bioptička uzorka sjemenika 18 bolesnika (trojica sa solitarnim testisom) s OA nenasljednog podrijetla (kontrolna skupina), 18 bioptičkih uzoraka sjemenika 9 bolesnika s KS, 28 bioptičkih uzoraka sjemenika 14 bolesnika s MYK te 6 bioptičkih uzoraka sjemenika 3 bolesnika s mutacijom gena CFTR. Ukupni volumen, površina i duljina sjemenskih kanalića u KS bili su značajno manji u odnosu na MYK, a vrijednosti svih ispitivanih stereoloških parametara u KS i MYK bile su značajno manje u odnosu na CFTR i kontrolnu skupinu. Usporedbom rezultata stereološke analize između histoloških podskupina (sindrom „samo Sertolijevih stanica“, mješovita atrofija) unutar skupina KS i MYK nije utvrđena razlika koja bi imala klinički značaj. Kvalitativna histološka analiza je pokazala znatna oštećenja spermatogeneze u KS i MYK, dok je u CFTR i kontrolnoj skupini parenhim sjemenika bio potpuno očuvan. Oštećenja spermatogeneze bila su najteža u KS. Zaključuje se da stereološka analiza ima dodatnu dijagnostičku vrijednost u obradi muške neplodnosti, dok kvalitativna histološka analiza ima prediktivnu vrijednost za uspješnu izolaciju spermija nakon biopsije testisa.

Abstract (english)

Chromosomal and gene abnormalities are responsible for 15%-30% of male-factor infertility. This study aimed to determine stereological properties of seminiferous tubules in infertile men with Klinefelter syndrome (KS), Y chromosome microdeletions (MYC) and CFRT gene mutation (CFTR), and to compare them with obstructive azoospermia (OA) of non-genetic origin (control group). In this study, 33 biopsy samples of testicular tissue from 18 patients (three with solitary testis) with OA of non-genetic origin (control group), 18 biopsy samples of testicular tissue from 9 patients with KS, 28 biopsy samples of testicular tissue from 14 patients with MYC, and 6 biopsy samples of testicular tissue from 3 patients with CFTR gene mutation were analyzed. The total volume, surface and length of seminiferous tubules were significantly smaller in KS compared with MYC. All investigated stereological parameters were significantly smaller in KS and MYC, respectively, compared with CFTR and control group. There were no differences in the results of stereological analysis when comparing histological subgroups (Sertoli cell-only syndrome; mixed atrophy) inside KS and MYC groups, respectively. Qualitative histological analysis revealed significant impairment of spermatogenesis in KS and MYC, whereas testicular parenchyma was fully maintained in CFTR and control group. Spermatogenesis was most seriously impaired in KS. In conclusion, stereological analysis has a valuable role in the diagnostic procedure of male infertility, whereas qualitative histological analysis has a predictive value for the successful testicular sperm extraction.

• Keywords: muška neplodnost; Klinefelterov sindrom; mikrodelecija Y kromosoma; mutacija CFTR gena; stereologija
• Keywords (english): male infertility; Klinefelter syndrome; Y chromosome microdeletions; CFTR gene mutation; stereology
• Language: croatian
• URN:NBN: urn:nbn:hr:105:908015
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-10-26 12:39:38