Purpose: The measurement of T-cell receptor excision circle (TREC) is being used in newborn screening (NBS) for severe combined immunodeficiency (SCID). Here, we report the results of newborn screening pilot program for SCID conducted in Turkey.Methods: The study was carried out together with Ankara University School of Medicine and The Ministry of Health (Public Health General Directorate and Pediatric and Adolescent Health Department). TREC measurements were performed in randomly selected Guthrie card samples obtained from 20.253 babies born between October 2018 and October 2020. The TREC analyses were performed together with beta Actin (β-Actin) via RT-PCR (Real Time Polymerase Chain Reaction) Results: TREC copy numbers found normal in 98.6% of the newborns (n: 19.975) at the initial analyses. Two among 10 babies who had undetectable TREC copies diagnosed as SCID; ADA and RAG1 defects confirmed respectively in the first (NB1/P1) and the second (NB2/P2) baby. They both received curative treatments (gene therapy and HSCT) free from live vaccines and life-threatening infections occurred. The remaining 6 of 8 newborns who had low (< 46 copies/DBS and <15 copies/µl) TREC copy numbers found normal following clinical and laboratory work-up while medical records related to other two reveled early postnatal death due to extreme prematurity. Conclusion: In the light of this study the incidence of SCID was detected at least 1/10.000 live births in Turkey. Finally, it is quite clear that SCID should be included as early as possible into the national NBS program in Turkey.

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1732 ale factor problems are observed in about 25-40% of the infertile couples in the population. The etiology of infertility is unknown in 30% of infertile males. Genetic causes of male infertility include numerical or constitutional chromosomal aberrations (inversion or translocation), microdeletions of Y chromosome, mitochondrial DNA mutations, monogenic diseases and multifactorial diseases. Chromosomal abnormalities are detected in 5.1% of all infertile men, 13.7% of azoospermic and 4.6% of oligospermic patients. Sex chromosome aneuplodies account for approximately 70% of chromosomal abnormalities seen in infertile males. A AB BS ST TR RA AC CT T A 30-year-old male patient referred to our clinic for unraveling the underlying etiology of the azoospermia. He had no unusual medical history. At physical examination, obesity, short neck and gynecomastia were noted. All hormone levels were normal except estradiol which was 2-fold higher than the upper limit. Having azoospermia in the spermiogram, scrotal ultrasonography was normal. Cytogenetic analysis and fluorescence in situ hybridization were performed subsequently, 45,X,add(21)(p10) and 45,X,add(21)(p10).ish der(Y;21) (q12;p10) were found, respectively. On C-banding, dicentric staining of translocated chromosome was observed. NOR banding was negative. Molecular genetics studies using multiplex polymerase chain reaction revealed the presence of Y chromosome sequences at SRY, AZFa, AZFb, AZFc regions.