Karyotype Analysis of Patients with Disorders of Sexual Development Presenting at Ahmadu Bello University Teaching Hospital, Zaria

Disorders of sexual development (DSD) encompass a range of congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Accurate diagnosis of DSD requires cytogenetic evaluation alongside clinical and hormonal assessments. This retrospective study analysed karyotype data of patients with clinically suspected DSD at Ahmadu Bello University Teaching Hospital (ABUTH), Zaria, North West Nigeria. Case files of 85 patients evaluated between 2018 and 2023 were reviewed. Chromosomal analysis was conducted using G-banded peripheral blood lymphocyte karyotyping. Clinical presentations, sex hormone profiles, and pedigree data were documented. The study identified a spectrum of chromosomal patterns including 46,XY with androgen insensitivity syndrome features, 45,X and 45,X/46,XX mosaicism consistent with Turner syndrome, and 47,XXY indicative of Klinefelter syndrome. A subset of patients had normal 46,XX or 46,XY karyotypes with apparent gonadal dysgenesis. These findings highlight the complexity of DSD diagnoses and the central role of cytogenetic services in tertiary hospitals in Northern Nigeria. Recommendations include establishing a DSD multidisciplinary team and strengthening genetic laboratory capacity at ABUTH. Keywords: disorders of sexual development, karyotype, cytogenetics, Ahmadu Bello University, Zaria