Delayed Diagnosis of Sex-Chromosome Aneuploidies in Eastern Libya: Turner and Klinefelter Syndromes in a Five-Year Cytogenetic Series from the First International Laboratory, Benghazi (2021–2025)

Abstract

Background. Turner and Klinefelter syndromes are the most common sex-chromosome aneuploidies, yet both are frequently recognised late, delaying growth-promoting, hormonal, and fertility-preserving care. We examined the age at which these disorders are diagnosed in eastern Libya, where newborn screening for chromosomal disorders is not performed. Methods. We analysed the sex-chromosome aneuploidy cases among all karyotype referrals to the Genome Laboratory, Benghazi, in 2021–2025, a subset of a cytogenetic registry reported separately. Karyotypes were classified per ISCN. Age at diagnosis was compared between syndromes and against the registry's Down syndrome cohort using the Mann–Whitney U test. Results. Twenty-seven patients had a sex-chromosome aneuploidy: 19 with Turner syndrome (11 monosomy 45, X, 8 mosaic, of which 2 carried a 46, XY line and presented with ambiguous genitalia) and 8 with Klinefelter spectrum (7 with 47, XXY and 1 with 49, XXXXY). The median age at diagnosis was 14.5 years overall: 9.0 years for Turner syndrome and 29.0 years for Klinefelter syndrome, with 6 of 7 Klinefelter patients diagnosed in adulthood. This was far later than the median of about five weeks for Down syndrome in the same registry (P < .001), and Klinefelter syndrome was diagnosed significantly later than Turner syndrome (P = .006). Where an indication was recorded, Turner syndrome was identified through short stature, delayed puberty, primary amenorrhea, and premature ovarian insufficiency, and Klinefelter syndrome almost exclusively through adult infertility and azoospermia. Conclusion. Sex-chromosome aneuploidies in eastern Libya are diagnosed late, with Klinefelter syndrome typically recognized only during infertility work-up in adulthood. Earlier karyotyping of children with short stature or pubertal delay, and of men with azoospermia, would shorten this diagnostic delay and open a window for timely intervention.