The incidence of intersexuality in children with cryptorchidism and hypospadias: Stratification based on gonadal palpability and meatal position

Purpose: The combined findings of cryptorchidism and hypospadias often indi cate the existence of an intersex state. Testicular maldescent and incomple te tubularization of the urethral plate occur in a spectrum with the severi ty of the 2 processes likely dependent on the degree of pathophysiology in the androgenic hormonal axis. The incidence of intersexuality in children w ith undescended testes, hypospadias and otherwise nonambiguous male genital ia has been reported to be 27%. Although the likelihood of genotypic or gon adal ambiguity has previously been associated with meatal position in this population, to our knowledge our study is the first to evaluate the inciden ce of intersexuality relative to whether the undescended testis is palpable or nonpalpable. Materials and Methods: The database at our hospital was searched for all ca ses of undescended testes (2,105) and hypospadias (1,057) between 1982 and 1996. Radiographic, histological and karyotypic data were compiled for all patients presenting with both diagnoses. Gonadal palpability (palpable vers us nonpalpable) and meatal position (anterior versus mid versus posterior) were recorded and correlated with the likelihood of identifying an intersex condition. Ten boys with a diagnosis of undescended testes subsequent to i nguinal hernial repair were excluded from study. Patients with congenital a drenal hyperplasia or complete testicular feminization were also excluded f rom study due to the clearly female appearance of the external. genitalia. Statistical significance was assessed using Fisher's exact test. Results: We identified 79 patients presenting with undescended testes, hypo spadias and a phallus that was believed to be a possible penis. Intersex co nditions were identified with nearly equal frequency in the 44 eases of uni lateral (30%) and 35 of bilateral (32%) cryptorchidism. In the unilateral u ndescended testes group patients with a nonpalpable testis were at least S- fold more likely to have an intersex condition than those with a palpable u ndescended testis (50 versus 15%, p = 0.02). In the bilateral group patient s with 1 or more nonpalpable testes were also nearly 3-fold as likely to ha ve an intersex condition than those with bilateral palpable undescended gon ads (47 versus 16%, p = 0.07). Meatal. position was graded as anterior in 3 3% of cases, mid in 25% and posterior in 41% with the more posterior locati on conferring a significantly greater likelihood of an intersex condition ( anterior 2 of 26, mid 1 of 20 and posterior 21 of 33). Conclusions: Gonadal palpability is an important predictor of an intersex s tate in unilateral and bilateral cases of cryptorchidism with hypospadias. Patients with an undescended testis that cannot be palpated are significant ly more likely to have an intersex condition than those in whom the undesce nded testis may be palpated on physical examination. The severity of hyposp adias likewise has a strong positive correlation with an intersex state.