Disorders of sex development (DSD) include conditions where chromosomal, gonadal, anatomical, or endocrine characteristics do not conform to typical patterns of sex development. Evaluating them requires integrating heterogeneous data from clinicians, laboratories, radiologists, pathologists, geneticists, psychologists, and patients. We report two patients with atypical external genitalia and markedly different underlying biological patterns. Case 1: a 3-year-old child reared as male with penoscrotal hypospadias, bifid scrotum, asymmetrically positioned gonads, and a 46, XX karyotype. Imaging did not demonstrate a prostate or seminal vesicles. Laparoscopy identified dysplastic gonads and tubular structures. Histopathology showed seminiferous tubules with absent germ cells in both gonads, a right-sided vas deferens with epididymis, and a left-sided tube with ciliated columnar epithelium and peg cells, with immunohistochemistry supporting Müllerian derivation. The patient was reported as 46, XX DSD with bilateral testicular tissue and a unilateral Müllerian derivative, classified in the source case as ovotesticular DSD. Case 2 was a 19-year-old patient reared as female presenting with primary amenorrhoea, clitoromegaly, mid-clitoral meatus, labioscrotal folds, and bilateral inguinal gonads. Imaging showed absent uterus, cervix, and ovaries, blind-ending vagina, bilateral seminal vesicles, and inguinal testes. Karyotyping was 46, XY, and serum testosterone was 385.4 ng/dL. Bilateral gonadectomy and feminizing vaginoplasty were undertaken after counseling and in accordance with the patient's stated gender preference; histopathology confirmed testes without germ-cell neoplasia. The combined record illustrates why medical informatics is important in DSD: isolated data elements were insufficient, whereas a longitudinal, structured, multidisciplinary record supported diagnosis, risk assessment, shared decision-making, and follow-up planning.