A cytogenetic study of Kuwaiti couples with infertility and reproductive disorders: short arm deletion of chromosome 21 is associated with male infertility

Aim. To assess the role of serum and ejaculate inhibin-activin status disorders in the development of reproductive disorders at idiopathic male infertility. Methods. The research includes data of laboratory and clinical examination of 82 infertile and 60 fertile men. Serum and semen levels of reproduction regulatory peptides inhibin B and activin A were determined using standard commercially available kits for enzyme-linked immunosorbent assay. Other parameters of ejaculate were also investigated. Results. In men with infertility of the unknown cause, sperm cell concentration was significantly decreased, and the proportion of sex cells with morphological anomalies was increased. The main features of inhibin-activin profile of biological fluids in healthy males with proven fertility were revealed, which were the significant gradient of inhibin and activin intertissue concentrations and domination of these molecular fertility factors in seminal plasma, corresponding with the views of their key role in sperm fertilizing capacity. In patients with pathospermia, the significant decrease of inhibin B concentration in the ejaculate but not in serum, associated with increased activin A levels was revealed, accompanied by characteristic shift of inhibin-activin ratio associated with the deterioration of quality and quantity parameters of semen. Conclusion. Revealed changes in the inhibin-activin sperm plasma mirror may be a pathogenetic basis for the idiopathic infertility in couples. Inhibin-activin coefficient in blood serum and seminal fluid may be used as a promising diagnostic and prognostic marker of reproductive dysfunction risk.

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Cytogenetic Study In Male Infertility

IOSR Journal of Dental and Medical Sciences ◽

10.9790/0853-0520511 ◽

2013 ◽

Vol 5 (2) ◽

pp. 5-11 ◽

Cited By ~ 1

Author(s):

Drugkar Amol Z.

Keyword(s):

Male Infertility ◽

Cytogenetic Study

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Immunophenotypic challenges in diagnosis of CD79a negativity in a patient with B acute lymphoblastic leukemia harboring intrachromosomal amplification of chromosome 21: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-021-03128-2 ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

A. Berhili ◽

M. Bensalah ◽

J. ElMalki ◽

A. Elyagoubi ◽

R. Seddik

Keyword(s):

Flow Cytometry ◽

Acute Lymphoblastic Leukemia ◽

Cytogenetic Study ◽

Lymphoblastic Leukemia ◽

Peripheral Blood Smear ◽

Chromosome 21 ◽

Cytogenetic Abnormality ◽

Acute Leukemias ◽

Eastern Morocco ◽

B Lineage

Abstract Background Being expressed in all stages of B-cell development and having a significant value on the European Group for the Immunological Characterization of Acute Leukemias scoring system, CD79a is considered as an excellent pan-marker for lineage assignment of B cells by flow cytometry. Therefore, any lack or decrease in CD79a expression makes the diagnosis of B acute lymphoblastic leukemia cases very challenging, especially in developing country laboratories where flow cytometry analyses are not always available and, when they are, they are limited in the number of markers used for lineage assignment. Since this case is potentially interesting, we report a B acute lymphoblastic leukemia case with a lack of expression CD79a associated with intrachromosomal amplification of chromosome 21 genetic abnormality. We further discuss the practical challenges in the diagnosis of this case. Case presentation We present the case of an 8-year-old Caucasian boy from eastern Morocco who was initially hospitalized for a hemorrhagic syndrome. Peripheral blood smear examination showed a significant number of blasts suggesting acute leukemia. Bone marrow was studied for morphology, cytochemistry, immunophenotyping, and cytogenetics. Flow cytometry analyses showed expression of CD19, CD22, CD10, CD34, and HLA-DR markers by leukemic blasts. The expression of CD79a, which was checked with two different monoclonal antibodies, confirms that this marker was severely decreased in this case. Cytogenetic study performed by fluorescence in situ hybridization revealed the presence of intrachromosomal amplification of chromosome 21, a cytogenetic abnormality that is specific for B acute lymphoblastic leukemia. Conclusion CD79a is one of the critical markers in the assignment of B acute lymphoblastic leukemia. In our case, we were lucky enough to be assisted by a few other markers of the B lineage that were positive in this case. Also, we mention the importance of proceeding to cytogenetic study, which in our case helped us to confirm the diagnosis made by flow cytometry by highlighting a cytogenetic abnormality that is specific to B acute lymphoblastic leukemia.

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