THE INCIDENCE OF INTERSEXUALITY IN CHILDREN WITH CRYPTORCHIDISM AND HYPOSPADIAS: STRATIFICATION BASED ON GONADAL PALPABILITY AND MEATAL POSITION

No AccessJournal of UrologyPapers Presented at Annual Meeting of the Section on Urology, American Academy of Pediatrics; San Francisco, California; October 17-19, 1998: Intersex1 Sep 1999THE INCIDENCE OF INTERSEXUALITY IN CHILDREN WITH CRYPTORCHIDISM AND HYPOSPADIAS: STRATIFICATION BASED ON GONADAL PALPABILITY AND MEATAL POSITION MARTIN KAEFER, DAVID DIAMOND, W. HARDY HENDREN, SREENU VEMULAPALLI, STUART B. BAUER, CRAIG A. PETERS, ANTHONY ATALA, and ALAN B. RETIK MARTIN KAEFERMARTIN KAEFER , DAVID DIAMONDDAVID DIAMOND , W. HARDY HENDRENW. HARDY HENDREN , SREENU VEMULAPALLISREENU VEMULAPALLI , STUART B. BAUERSTUART B. BAUER , CRAIG A. PETERSCRAIG A. PETERS , ANTHONY ATALAANTHONY ATALA , and ALAN B. RETIKALAN B. RETIK View All Author Informationhttps://doi.org/10.1016/S0022-5347(01)68048-0AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: 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. Materials and 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. References 1 : Hypospadias with special reference to etiology. Op. Dom. Biol. Hered. Hum.1953; 31: 1. Google Scholar 2 : Study of the incidence of hypospadias in Rochester, Minnesota, 1940-1970, and a case-control comparison of possible etiologic factors. Mayo Clin. Proc.1974; 49: 52. Google Scholar 3 : The incidence of hypospadias in Sweden. Scand. J. Plast. Reconstr. Surg.1975; 9: 129. Google Scholar 4 : Normal and anomalous development of the urinary tract. In: . Philadelphia: W. B. Saunders Co.1998: 1582. Google Scholar 5 : New York: Appleton-Century-Crofts1971. Google Scholar 6 : Time-specific androgen blockade with flutamide inhibits testicular descent in the rat. Endocrinology1991; 129: 1409. Google Scholar 7 : Effects of flutamide and finasteride on rat testicular descent. Endocrinology1991; 129: 741. Google Scholar 8 : Congenital anomalies of the testis and scrotum. In: . Philadelphia: W. B. Saunders Co.1998: 2177. Google Scholar 9 : Timing of elective hypospadias repair in children. Pediatrics1983; 71: 342. Google Scholar 10 : Neonatal urologic emergencies. In: . Philadelphia: W. B. Saunders Co.1998: 1640. Google Scholar 11 : Genitourinary abnormalities associated with the Smith-Lemli-Opitz syndrome. J. Urol.1987; 137: 719. Link, Google Scholar 12 : A cluster of male pseudohermaphrodites with 5 alpha-reductase deficiency in Papua New Guinea. Clin. Endocr.1991; 34: 293. Google Scholar 13 : The incidence of intersexuality in patients with hypospadias and cryptorchidism. J. Urol.1976; 116: 769. Link, Google Scholar 14 : Utricular configuration in hypospadias and intersex. J. Urol.1980; 123: 407. Link, Google Scholar 15 : Successful hypospadias repair. Contemp. Urol.1992; 4: 42. Google Scholar 16 : Surgery of the scrotum and testis in children. In: . Philadelphia: W. B. Saunders Co.1998: 2195. Google Scholar 17 : Steroid 5 alpha-reductase 2 deficiency. Endocr. Rev.1993; 14: 577. Google Scholar 18 : Posterior urethral valves, pressure pop-offs and bladder function. J. Urol.1995; 154: 708. Link, Google Scholar 19 : Spontaneous alterations in position of the testes. Arch. Dis. Child1966; 41: 198. Google Scholar 20 : Prevalence and natural history of cryptorchidism. Pediatrics1993; 92: 44. Google Scholar 21 : Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. New Engl. J. Med.1994; 330: 107. Google Scholar 22 : The presence of intersexuality in patients with advanced hypospadias and undescended gonads. J. Urol.1987; 137: 263. Link, Google Scholar 23 : Carcinoma in situ of the testis in children with 45,X/46,XY gonadal dysgenesis. J. Ped.1985; 106: 431. Google Scholar 24 : Testicular tumor in male pseudohermaphrodite with X/XY chromosomal mosaicism. Urology1979; 13: 295. Google Scholar 25 : The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Amer. J. Obst. Gynec.1976; 124: 293. Google Scholar From the Departments of Urology and Surgery, Children's Hospital and Harvard Medical School, Boston, Massachusetts(Kaefer) Current address: Riley Children's Hospital, 702 Barnhill Drive, Indianapolis, Indiana 46202.© 1999 by American Urological Association, Inc.FiguresReferencesRelatedDetailsCited byJohnson E, Jacobson D, Finlayson C, Yerkes E, Goetsch A, Leeth E and Cheng E (2020) Proximal Hypospadias—Isolated Genital Condition or Marker of More?Journal of Urology, VOL. 204, NO. 2, (345-352), Online publication date: 1-Aug-2020.Sekaran P, O'Toole S, Flett M and Cascio S (2012) Increased Occurrence of Disorders of Sex Development, Prematurity and Intrauterine Growth Restriction in Children with Proximal Hypospadias Associated with Undescended TestesJournal of Urology, VOL. 189, NO. 5, (1892-1896), Online publication date: 1-May-2013.Itesako T, Nara K, Matsui F, Matsumoto F and Shimada K (2011) Acquired Undescended Testes in Boys With HypospadiasJournal of Urology, VOL. 185, NO. 6S, (2440-2443), Online publication date: 1-Jun-2011.Bayne A, Alonzo D, Hsieh M and Roth D (2011) Impact of Anatomical and Socioeconomic Factors on Timing of Urological Consultation for Boys With CryptorchidismJournal of Urology, VOL. 186, NO. 4S, (1601-1605), Online publication date: 1-Oct-2011.Cox M, Coplen D and Austin P (2008) The Incidence of Disorders of Sexual Differentiation and Chromosomal Abnormalities of Cryptorchidism and Hypospadias Stratified by Meatal LocationJournal of Urology, VOL. 180, NO. 6, (2649-2652), Online publication date: 1-Dec-2008.MORENO-GARCÍA M and MIRANDA E (2018) Chromosomal Anomalies in Cryptorchidism and HypospadiasJournal of Urology, VOL. 168, NO. 5, (2170-2172), Online publication date: 1-Nov-2002.McALEER I and KAPLAN G (2018) IS ROUTINE KARYOTYPING NECESSARY IN THE EVALUATION OF HYPOSPADIAS AND CRYPTORCHIDISM?Journal of Urology, VOL. 165, NO. 6 Part 1, (2029-2032), Online publication date: 1-Jun-2001.BOEHMER A, NIJMAN R, LAMMERS B, DE CONINCK S, VAN HEMEL J, THEMMEN A, MUREAU M, DE JONG F, BRINKMANN A, NIERMEIJER M and DROP S (2018) ETIOLOGICAL STUDIES OF SEVERE OR FAMILIAL HYPOSPADIASJournal of Urology, VOL. 165, NO. 4, (1246-1254), Online publication date: 1-Apr-2001. Volume 162Issue 3 Part 2September 1999Page: 1003-1006 Advertisement Copyright & Permissions© 1999 by American Urological Association, Inc.MetricsAuthor Information MARTIN KAEFER More articles by this author DAVID DIAMOND More articles by this author W. HARDY HENDREN More articles by this author SREENU VEMULAPALLI More articles by this author STUART B. BAUER More articles by this author CRAIG A. PETERS More articles by this author ANTHONY ATALA More articles by this author ALAN B. RETIK More articles by this author Expand All Advertisement PDF downloadLoading ...