Hormonal Profiles and Y Chromosome AZF Microdeletions in Moroccan Azoospermic Men: A Molecular and Endocrine Study

Background/Objectives: Y chromosome microdeletions in the azoospermia factor (AZF) regions are a major genetic cause of severe male infertility, yet their relationship with hormonal profiles in azoospermic men remains unclear. This study aimed to investigate AZF microdeletions and associated hormonal parameters in azoospermic patients. Methods: Azoospermic patients were screened for AZFa, AZFb, and AZFc microdeletions using multiplex real-time PCR targeting sequence-tagged site (STS) markers (sY84, sY127, and sY254). Patients were categorized into AZF-negative and AZF-positive groups, with the latter further stratified according to their deletion subtype. Serum follicle-stimulating hormone (FSH), testosterone, and inhibin B levels were measured. Hormonal parameters were compared between groups using the Mann–Whitney U test, and a logistic regression analysis was performed to evaluate associations between hormonal variables and AZF deletion status. Results: AZF microdeletions were detected in 18.7% (17/91) of patients. Patients without AZF deletions showed a median FSH level of 17.40 (7.12–31.27) IU/L. In contrast, AZFc deletion carriers exhibited an intermediate median FSH level of 21.10 (16.11–26.10) IU/L and lower median inhibin B concentrations (25.50 [25.25–26.00] pg/mL) compared with AZF-negative patients (56.00 [33.50–106.50] pg/mL). Median testosterone levels in AZFc patients (3.61 [2.87–4.35] ng/mL) remained within the expected physiological range. However, no statistically significant differences were observed between the AZF subgroups for age (p = 0.262), FSH (p = 0.506), testosterone (p = 0.615), or inhibin B (p = 0.524). The logistic regression analysis also showed no significant association between hormonal parameters and AZF deletion status. Conclusions: Hormonal parameters alone are insufficient to predict the presence of AZF microdeletions in azoospermic men. These findings highlight the importance of routine genetic screening for accurate diagnosis, clinical management, and reproductive counseling in male infertility.

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Journal
Reproductive Medicine
Published
2026-06-25
DOI
https://doi.org/10.3390/reprodmed7030029
Primary Topic
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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article
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article

Hormonal Profiles and Y Chromosome AZF Microdeletions in Moroccan Azoospermic Men: A Molecular and Endocrine Study

Manal Abouelouafa, Brahim El Houate, Modou Mamoune Mbaye, Hicham El Ossmani et al.
Reproductive Medicine
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
article

Hormonal Profiles and Y Chromosome AZF Microdeletions in Moroccan Azoospermic Men: A Molecular and Endocrine Study

Manal Abouelouafa, Brahim El Houate, Modou Mamoune Mbaye, Hicham El Ossmani, Anas Mbarki, Adnane Hakem, Mariame Kabbour, Youssef Bakri
article en

Abstract

Background/Objectives: Y chromosome microdeletions in the azoospermia factor (AZF) regions are a major genetic cause of severe male infertility, yet their relationship with hormonal profiles in azoospermic men remains unclear. This study aimed to investigate AZF microdeletions and associated hormonal parameters in azoospermic patients. Methods: Azoospermic patients were screened for AZFa, AZFb, and AZFc microdeletions using multiplex real-time PCR targeting sequence-tagged site (STS) markers (sY84, sY127, and sY254). Patients were categorized into AZF-negative and AZF-positive groups, with the latter further stratified according to their deletion subtype. Serum follicle-stimulating hormone (FSH), testosterone, and inhibin B levels were measured. Hormonal parameters were compared between groups using the Mann–Whitney U test, and a logistic regression analysis was performed to evaluate associations between hormonal variables and AZF deletion status. Results: AZF microdeletions were detected in 18.7% (17/91) of patients. Patients without AZF deletions showed a median FSH level of 17.40 (7.12–31.27) IU/L. In contrast, AZFc deletion carriers exhibited an intermediate median FSH level of 21.10 (16.11–26.10) IU/L and lower median inhibin B concentrations (25.50 [25.25–26.00] pg/mL) compared with AZF-negative patients (56.00 [33.50–106.50] pg/mL). Median testosterone levels in AZFc patients (3.61 [2.87–4.35] ng/mL) remained within the expected physiological range. However, no statistically significant differences were observed between the AZF subgroups for age (p = 0.262), FSH (p = 0.506), testosterone (p = 0.615), or inhibin B (p = 0.524). The logistic regression analysis also showed no significant association between hormonal parameters and AZF deletion status. Conclusions: Hormonal parameters alone are insufficient to predict the presence of AZF microdeletions in azoospermic men. These findings highlight the importance of routine genetic screening for accurate diagnosis, clinical management, and reproductive counseling in male infertility.

Reproductive MedicineVol. 7(3)
Mohammed V University (MA), Instituts Supérieurs des Professions Infirmières et Techniques de Santé (MA), Office Régional de Mise en Valeur Agricole de Ouarzazate (MA), Université Mohammed VI des Sciences et de la Santé (MA), Institut National des Sciences de l'Archéologie et du Patrimoine (MA), University of Hassan II Casablanca (MA)
Openalex Percentile: Top 8%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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