Traversing from childhood surgery to adult life: Long-term functional and psychosexual outcomes in males with differences/disorders of sex development.

INTRODUCTION: Long-term outcomes of disorders of sex development (DSD) following masculinizing genitoplasty remain inadequately defined, particularly regarding transition through puberty into adult social, reproductive, and sexual roles. This study aimed to comprehensively evaluate the long-term domains in males with DSD following surgery in childhood. METHODS: After ethical approval, DSD males aged ≥18 years post-genitoplasty were assessed for surgical, hormonal, urinary, sexual, fertility-related, and psychosocial outcomes. Information was obtained through structured interviews, clinical examination, semen parameters (WHO standards) and validated tools-including the International Prostate Symptom Score (IPSS) and International Index of Erectile Function (IIEF). Subgroup analysis was performed across three 46,XY DSD etiological categories: partial androgen insensitivity syndrome (PAIS), 5α-reductase deficiency (5αRD), and Other variants (OV) [46, XX Testicular, ovotesticular, dysgenetic forms]. RESULTS: All 12 participants identified as male, were comfortable in their gender role, with heterosexual orientation. Nine voided standing and three sitting, with overall satisfaction regarding voiding. Six were married and sexually active, and two had fathered five children spontaneously. Among seven who provided semen samples, five had sperm in the ejaculate, all with asthenozoospermia. Serum Leutinizing hormone (LH), Follicular Stimulating hormone (FSH) and testosterone levels were normal in most patients, whereas normal inhibin B was observed in only 2. Subgroup analysis demonstrated significant differences in testosterone across PAIS (n = 5), 5αRD (n = 2), and OV (n = 4), with highest levels in 5αRD and lowest in OV. PAIS showed best preserved gonadal function parameters; sperm count and Inhibin FSH ratio (IFR), 5αRD partial preservation, and OV consistently poorer outcomes. Concerns regarding penile size were reported by 10 (83.3%), and severe ED was present in 8/12 (66.7%) per IIEF. All participants reported satisfactory psychosocial adjustment; eight were employed and four were students. Correlation analyses revealed no significant association between testosterone and SPL (p = 0.494) and only non-significant positive trends between Sertoli-cell markers(inhibin B p = 0.324; IFR p = 0.221) and sperm count. Median SPL was 2.0:2.5:3.5 cm in PAIS:5αRD:OV; median sperm count was 28:18:0 million/ml. Penile length and erectile scores were comparable across groups, while sperm output was lowest in OV. DISCUSSION: This single-centre longitudinal study provides rare long-term data on post-genitoplasty outcomes in DSD males. Gonadal and Sertoli-cell dysfunction were most pronounced in dysgenetic variants, whereas PAIS demonstrated a more favourable endocrine and functional profile. CONCLUSION: Most participants maintained stable male identity and psychosocial functioning. Gonadal and sexual function was highest in PAIS, reduced in 5αRD, and markedly impaired in OV.