title: The incidence of intersexuality in children with cryptorchidism and hypospadias: stratification based on gonadal palpability and meatal position.
abstract: OBJECTIVE
  The combined findings of cryptorchidism and hypospadias often indicate the existence of an intersex state. Testicular maldescent and incomplete tubularization of the urethral plate occur in a spectrum with the severity of the 2 processes likely dependent on the degree of pathophysiology in the androgenic hormonal axis. The incidence of intersexuality in children with undescended testes, hypospadias and otherwise nonambiguous male genitalia has been reported to be 27%. Although the likelihood of genotypic or gonadal ambiguity has previously been associated with meatal position in this population, to our knowledge our study is the first to evaluate the incidence of intersexuality relative to whether the undescended testis is palpable or nonpalpable.
  
  
  METHODS
  The database at our hospital was searched for all cases 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 versus 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 inguinal hernial repair were excluded from study. Patients with congenital adrenal hyperplasia or complete testicular feminization were also excluded from 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, hypospadias and a phallus that was believed to be a possible penis. Intersex conditions were identified with nearly equal frequency in the 44 cases of unilateral (30%) and 35 of bilateral (32%) cryptorchidism. In the unilateral undescended testes group patients with a nonpalpable testis were at least 3-fold more likely to have an intersex condition than those with a palpable undescended testis (50 versus 15%, p = 0.02). In the bilateral group patients with 1 or more nonpalpable testes were also nearly 3-fold as likely to have an intersex condition than those with bilateral palpable undescended gonads (47 versus 16%, p = 0.07). Meatal position was graded as anterior in 33% of cases, mid in 25% and posterior in 41% with the more posterior location 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 state in unilateral and bilateral cases of cryptorchidism with hypospadias. Patients with an undescended testis that cannot be palpated are significantly more likely to have an intersex condition than those in whom the undescended testis may be palpated on physical examination. The severity of hypospadias likewise has a strong positive correlation with an intersex state.
authors.affiliation: Department of Urology, Children's Hospital, Boston, Massachusetts, USA.
authors.forename: M
authors.initials: M
authors.lastname: Kaefer
authors.forename: D
authors.initials: D
authors.lastname: Diamond
authors.forename: W H
authors.initials: WH
authors.lastname: Hendren
authors.forename: S
authors.initials: S
authors.lastname: Vemulapalli
authors.forename: S B
authors.initials: SB
authors.lastname: Bauer
authors.forename: C A
authors.initials: CA
authors.lastname: Peters
authors.forename: A
authors.initials: A
authors.lastname: Atala
authors.forename: A B
authors.initials: AB
authors.lastname: Retik
mesh_terms: D002648:Child; D003456:Cryptorchidism / Q000150:complications*; D012734:Disorders of Sex Development / Q000453:epidemiology* / Q000209:etiology; D006801:Humans; D007021:Hypospadias / Q000150:complications*; D015994:Incidence; D008297:Male