Cytogenetic and molecular characterization of an oligoasthenozoospermia male carrier of an unbalanced Y;22 translocation: A case report
Rationale: Y;autosome translocations are associated with male infertility and azoospermia. Some carriers with a Y:22 translocation can produce offspring and transmit the translocation through generations without phenotypic repercussion. Hence, the clinical features of carriers with certain Y chromosome abnormalities remain uncertain. Patient concerns: An apparently healthy 33-year-old man, 175 cm tall and weighing 60 kg had a 6-month history of primary infertility. Diagnoses: The patient was diagnosed with oligoasthenozoospermia. A series of examinations have been performed to evaluate possible genetic causes of this diagnosis. Several methods included semen analysis, hormone measurements, cytogenetic analysis, and high-throughput multiplex ligation-dependent probe amplification semiconductor sequencing. Interventions: The patient underwent detailed genetic counseling. Cytogenetic analysis was advised for his father. Preimplantation genetic diagnosis was performed to improve potential pregnancy success rate. Outcomes: Semen analysis revealed oligoasthenozoospermia. Hormone levels were within the normal limits. The karyotype of the patient and his father was 45,X,der(Y;22). Sequencing results indicated the presence of the sex-determining region on the Y chromosome gene. Y-chromosome microdeletion detection showed the presence of AZF (azoospermic factor)a, AZFb, and AZFc regions, but deletion of b2/b3 and duplication of b3/b4 regions. Lessons: A clinical ka...
ConclusionAlthough classically, majority of studies have shown oncogenic roles of nucleoporins as genetic fusion partners in several types of leukemia, emerging evidence suggests that nucleoporins also modulate many cellular signaling pathways that are associated with several major non-hematological malignancies, such as carcinomas of skin, breast, lung, prostate and colon. Hence, nucleoporins are emerging as novel therapeutic targets in human tumors.
ConclusionsCurrent evidence supports a significant association between history of PMS and development of PPD. Well-designed prospective studies are needed to further investigate this relationship.
NIH-funded study finds higher risks for children of women who took efavirenz during pregnancy.
CONCLUSION: The ratio of testosterone to estradiol levels in infertile men treated with aromatase inhibitor improved and caused changes in sperm parameters. Letrozole may be used to improve sperm parameters in infertile men with low serum testosterone to estradiol ratio. PMID: 31734656 [PubMed - in process]
[Observer] -An evolving era for Sub-Saharan Africa
Although 1 in 200 women with fertility issues have overt thyroid dysfunction and many more subclinical hypothyroidism, it is unclear how best to identify or manage them, say UK researchers.Medscape News UK
We report a case of a girl with BSS associated with clinical features of 22q11.2 deletion syndrome (22q11.2DS) with phenotypic spectrum of DiGeorge syndrome/velocardiofacial syndrome. She has a history of life-long bleeding tendency, tetralogy of Fallot, hypothyroidism, mild facial dysmorphic signs and macrothrombocytopenia. The BBS and 22q11.2DS association could be explained by the fact that the constitutional hemizygosity of 22q11.2 may unmask an autosomal recessive disorder caused by alterations of the nondeleted GPIbβ allele. We suggest that all patients with 22q11.2DS and bleeding manifestations should be always tested for BSS.
[allAfrica] Nairobi -AllAfrica.com's Bacary Dabo spoke with Plan International's CEO Anne-Birgitte Albrectsen, while attending the International Conference on Population and Development (ICPD25) in Nairobi, Kenya.