Hypospadias Clinical Presentation

  • Author: John M Gatti, MD; Chief Editor: Marc Cendron, MD   more...
 
Updated: Aug 11, 2011
 

History

Obtain a thorough history and physical examination, including any history of a familial pattern of hypospadias, any past medical history or comorbidity, and a physical assessment focusing on the meatal location, glans configuration, skin coverage, and chordee.

A history of infertility and treatment should also be documented, as in vitro fertilization (IVF) has been associated with a higher incidence of hypospadias.

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Physical

Although the diagnosis of hypospadias has been made using both prenatal fetal ultrasonography and MRI, the diagnosis is generally made upon examination of the newborn infant.[5]

  • A dorsal hood of foreskin and glanular groove are evident, but, upon closer inspection, the prepuce is incomplete ventrally and the urethral meatus is noted in a proximally ectopic position. Rarely, the foreskin may be complete, and the hypospadias is revealed at the time of circumcision. If hypospadias is encountered during neonatal circumcision, after the dorsal slit has been performed, the procedure should be halted, and the patient should be referred for urologic evaluation.
  • Chordee may be readily apparent or discernible only during erection. Proximal hypospadias is commonly associated with a bifid scrotum and penoscrotal transposition, in which the rugated scrotal skin begins lateral to the penis rather than in its normal posterior origin.
  • See the image below.Penoscrotal transposition is shown. Note the rugatPenoscrotal transposition is shown. Note the rugated scrotal skin lateral to the penis, cephalad to its normal position.
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Causes

Several etiologies for hypospadias have been suggested, including genetic, endocrine, and environmental factors.

  • Genetic factors
    • A genetic predisposition has been suggested by the 8-fold increase in incidence of hypospadias among monozygotic twins compared with singletons. This finding may relate to the demand of 2 fetuses for human chorionic gonadotropin (HCG) produced by a single placenta, with an inadequate supply during critical periods of urethral development.
    • A familial trend has been noted with hypospadias. The prevalence of hypospadias in male children of fathers with hypospadias has been reported as 8%, and 14% of brothers of children with hypospadias are also affected. The inheritance is likely polygenic.
  • Endocrine factors
    • A decrease in available androgen or an inability to use available androgen appropriately may result in hypospadias. In a 1997 report by Aaronson et al, 66% of boys with mild hypospadias and 40% with severe hypospadias were found to have a defect in testicular testosterone biosynthesis.[6] Mutations in the 5-alpha reductase enzyme, which converts testosterone (T) to the more potent dihydrotestosterone (DHT), have been associated with hypospadias. A 1999 report by Silver et al found nearly 10% of boys with isolated hypospadias had at least one affected allele with a 5-alpha reductase mutation.[7] Although androgen receptor deficits, quantitative or qualitative, have been shown to result in hypospadias, this is thought to be relatively uncommon, and other factors are more commonly implicated.
    • A higher incidence of hypospadias in winter conceptions has also been proposed. Theoretically, this may be related to the effect of daylight on pituitary function, which, in turn, affects the maternal and fetal hormonal milieu; however, other authors have not noticed this association.
    • A 5-fold increased risk of hypospadias appears to exist in males born through IVF when compared with a control group. This may reflect maternal exposure to progesterone, which is commonly administered in IVF protocols. Progesterone is a substrate for 5-alpha reductase and acts as a competitive inhibitor of the T-to-DHT conversion.
    • Other factors that contribute to infertility, such as underlying endocrinopathies or fetal endocrine abnormalities, may play a role.
  • Environmental factors
    • Endocrine disruption by environmental agents is gaining popularity as a possible etiology for hypospadias and as an explanation for its increasing incidence.
    • Estrogens have been implicated in abnormal penile development in many animal models. Environmental substances with significant estrogenic activity are ubiquitous in industrialized society and are ingested as pesticides on fruits and vegetables, endogenous plant estrogens, in milk from lactating pregnant dairy cows, from plastic linings in metal cans, and in pharmaceuticals.
    • A study by Hadziselimovic in 2000 described an increase in estradiol concentration in placental basal syncytiotrophoblasts of boys with undescended testes compared with a control population.[8] Undescended testes and hypospadias have been associated, but increased estradiol concentration has not been implicated in hypospadias per se. This may support the association of hypospadias with increasing parity, increasing maternal age, and low birth weight noted in some studies in relation to lifelong exposure to environmental disruptors and a possible cumulative effect.
  • Combination theory: A growing body of evidence suggests that the development of hypospadias has a two-hit etiology involving a genetic predisposition coupled with fetal exposure to an environmental disruptor.[9]
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Contributor Information and Disclosures
Author

John M Gatti, MD  Associate Professor and Director of Minimally Invasive Urology, Department of Pediatric Surgery and Urology, Children's Mercy Hospital; Assistant Professor, Department of Pediatric Surgery and Urology, University of Missouri School of Medicine at Kansas City, Missouri; Assistant Clinical Professor, Division of Pediatric Urology, University of Kansas School of Medicine at Kansas City, Kansas

John M Gatti, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Urological Association, Society for Fetal Urology, and Society for Pediatric Urology

Disclosure: Nothing to disclose.

Coauthor(s)

Andrew J Kirsch, MD, FAAP, FACS  Clinical Professor of Urology, Emory University School of Medicine, Children's Healthcare of Atlanta; President, Georgia Urology, PA

Andrew J Kirsch, MD, FAAP, FACS is a member of the following medical societies: American Academy of Pediatrics, American Urological Association, and Society for Fetal Urology

Disclosure: QMED Grant/research funds Investigation, Consulting; COOK Urological Royalty Consulting

Howard M Snyder III, MD  Professor, Department of Surgery, Division of Pediatric Urology, University of Pennsylvania School of Medicine

Howard M Snyder III, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Medical Association, American Urological Association, and National Kidney Foundation

Disclosure: Nothing to disclose.

Specialty Editor Board

Martin David Bomalaski, MD, FAAP  Pediatric Urologist, Alpine Urology

Martin David Bomalaski, MD, FAAP is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, and American Urological Association

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Harry P Koo, MD  Chairman of Urology Division and Director of Pediatric Urology, Professor of Surgery, Virginia Commonwealth University School of Medicine, Medical College of Virginia; Director of Urology, Children's Hospital of Richmond

Harry P Koo, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, and American Urological Association

Disclosure: Nothing to disclose.

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

Chief Editor

Marc Cendron, MD  Associate Professor of Surgery, Harvard School of Medicine; Consulting Staff, Department of Urological Surgery, Children's Hospital Boston

Marc Cendron, MD is a member of the following medical societies: American Academy of Pediatrics, American Urological Association, European Society for Paediatric Urology, Johns Hopkins Medical and Surgical Association, New Hampshire Medical Society, Society for Fetal Urology, and Society for Pediatric Urology

Disclosure: Nothing to disclose.

References

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Proximal shaft hypospadias is shown. Note the deficient ventral foreskin, blind urethral pit at the glanular level, and lighter pigmented urethral plate extending to the true meatus at the proximal shaft level.
Proximal shaft hypospadias is shown. Note the typical dorsal hood of foreskin and ventral penile skin deficiency.
Penoscrotal hypospadias is shown. Note the associated ventral chordee and true urethral meatus located at the scrotal level.
Severe penile chordee is shown. Note the extreme ventral curvature of the penile shaft.
Penoscrotal transposition is shown. Note the rugated scrotal skin lateral to the penis, cephalad to its normal position.
A pedicled preputial island flap is shown. This hairless skin flap will be rotated on its vasculare pedicle to the ventrum of the penis for repair of the urethra.
Tubularized incised plate (TIP) technique. The urethral plate has been incised in the dorsal midline, expanding the width of the plate and allowing it to hinge forward for tubularization.
A urethrocutaneous fistula has appeared after hypospadias repair. Note one stream from true urethral meatus, and second stream through more proximal fistula.
 
 
 
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