Case Report: Comprehensive Evaluation and Management of Male Infertility with Complete AZFC Microdeletion and Undescended Testicle

Overview

Journal Urol Case Rep

Date 2025 Jan 31

PMID 39885845

Authors

Niyazi Emre Turgut

Mehmet Murad Basar

Affiliations

Soon will be listed here.

Abstract

This case report presents a 31-year-old male patient with primary infertility, a unilaterally undescended testicle, and a complete AZFc microdeletion. Despite failed attempts at testicular sperm extraction, the patient underwent successful microscopic testicular sperm extraction and subsequent viable sperm extraction, leading to successful fertilization through intracytoplasmic sperm injection (ICSI). The report underscores the potential for successful ICSI in male infertility cases with complex genetic and reproductive issues, highlighting the importance of comprehensive genetic evaluation and individualized reproductive techniques in managing male infertility associated with undescended testicle and genetic anomalies.

References

Kalfa N, Gaspari L, Ollivier M, Philibert P, Bergougnoux A, Paris F . Molecular genetics of hypospadias and cryptorchidism recent developments. Clin Genet. 2018; 95(1):122-131. DOI: 10.1111/cge.13432. View

Pryor J, Kent-First M, Muallem A, van Bergen A, Nolten W, Meisner L . Microdeletions in the Y chromosome of infertile men. N Engl J Med. 1997; 336(8):534-9. DOI: 10.1056/NEJM199702203360802. View

Sahin F, Yilmaz Z, Yuregir O, Bulakbasi T, Ozer O, Zeyneloglu H . Chromosome heteromorphisms: an impact on infertility. J Assist Reprod Genet. 2008; 25(5):191-5. PMC: 2582066. DOI: 10.1007/s10815-008-9216-3. View

Karaca Y, Pariltay E, Mardan L, Karaca E, Durmaz A, Durmaz B . Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure. Reprod Biol. 2020; 20(1):42-47. DOI: 10.1016/j.repbio.2019.12.006. View

Castro A, Codner E, Kaune H, Lopez P, Vantman D, Cassorla F . Absence of Y chromosome microdeletions in patients with cryptorchidism and hypospadias. J Pediatr Endocrinol Metab. 2004; 17(2):143-8. DOI: 10.1515/jpem.2004.17.2.143. View

Ferlin A, Bettella A, Tessari A, Salata E, Dallapiccola B, Foresta C . Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility. Fertil Steril. 2004; 81(4):1013-8. DOI: 10.1016/j.fertnstert.2003.08.053. View

Kalantari P, Sepehri H, Behjati F, Ashtiani Z, Akbari M . Chromosomal studies in infertile men. Tsitol Genet. 2002; 35(6):50-4. View

Simoni M, Bakker E, Eurlings M, Matthijs G, Moro E, Muller C . Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl. 1999; 22(5):292-9. DOI: 10.1046/j.1365-2605.1999.00193.x. View

Minocherhomji S, Athalye A, Madon P, Kulkarni D, Uttamchandani S, Parikh F . A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype. Fertil Steril. 2008; 92(1):88-95. DOI: 10.1016/j.fertnstert.2008.05.071. View

10.

Kunej T, Zorn B, Peterlin B . Y chromosome microdeletions in infertile men with cryptorchidism. Fertil Steril. 2003; 79 Suppl 3:1559-65. DOI: 10.1016/s0015-0282(03)00375-3. View

11.

Foresta C, Moro E, Garolla A, Onisto M, Ferlin A . Y chromosome microdeletions in cryptorchidism and idiopathic infertility. J Clin Endocrinol Metab. 1999; 84(10):3660-5. DOI: 10.1210/jcem.84.10.6077. View

12.

Gurbuz N, Ozbay B, Aras B, Tasci A . Do microdeletions in the AZF region of the Y chromosome accompany cryptorchidism in Turkish children?. Int Urol Nephrol. 2007; 40(3):577-81. DOI: 10.1007/s11255-007-9318-3. View

13.

Fagerli J, Schneck F, Lee P, Bellinger M, Witchel S . Absence of microdeletions in the Y chromosome in patients with a history of cryptorchidism and azoospermia or oligospermia. Fertil Steril. 1999; 71(4):697-700. DOI: 10.1016/s0015-0282(98)00535-4. View

14.

Krausz C, Granchi S, McElreavey K, Scarselli G, Forti G . Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection. Hum Reprod. 1999; 14(7):1717-21. DOI: 10.1093/humrep/14.7.1717. View

15.

Madon P, Athalye A, Parikh F . Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online. 2006; 11(6):726-32. DOI: 10.1016/s1472-6483(10)61691-4. View

16.

Foresta C, Ferlin A, Garolla A, Milani C, Oliva G, Rossato M . Functional and cytologic features of the contralateral testis in cryptorchidism. Fertil Steril. 1996; 66(4):624-9. DOI: 10.1016/s0015-0282(16)58579-3. View