Low risk of impaired testicular Sertoli and Leydig cell functions in boys with

REY, RA; CODNER, E; IÑIGUEZ, G; BEDECARRÁS, P; TRIGO, R; OKUMA, C; GOTTLIEB, S; BERGADÁ, I; CAMPO, S; CASSORLA,FG

JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM

Año: 2005 vol. 90 p. 6035 - 6040

0021-972X

CONTEXT: Isolated hypospadias may result from impaired testicular function orandrogen end-organ defects or, alternatively, from hormone-independentabnormalities of morphogenetic events responsible for urethral seam. OBJECTIVE:The objective was to evaluate the relative prevalence of hormone-dependentetiologies in boys with isolated hypospadias. DESIGN, PATIENTS, AND MAIN OUTCOME MEASURES: We studied endocrine testicular capacity in 61 patients with isolatedhypospadias and 28 with hypospadias associated with micropenis, cryptorchidism,or ambiguous genitalia. Serum anti-Müllerian hormone and inhibin B were used asSertoli cell markers. A human chorionic gonadotropin test was performed toevaluate Leydig cell function. RESULTS: Testicular dysfunction was observed in57.1% and androgen end-organ defects in 7.2% of patients with hypospadiasassociated with cryptorchidism, micropenis, or ambiguous genitalia. In theremaining 35.7%, the disorder was idiopathic. The presence of ambiguous genitaliapredicted the existence of testicular or end-organ dysfunction with 81.8%specificity. Isolated hypospadias was associated in 14.8% of patients withtesticular dysfunction and in 6.5% of cases with end-organ defects; in 78.7% ofcases, the condition was idiopathic. The occurrence of isolated hypospadias ruledout the existence of testicular or end-organ disorders with 80.0% sensitivity.Altogether our data indicate that the risk for the existence of an underlyingtesticular or end-organ dysfunction is low in patients with isolated hypospadias (odds ratio, 0.13; 95% confidence interval, 0.05-0.36; P < 0.001). CONCLUSIONS:Boys with isolated hypospadias are more likely to have normal endocrinetesticular and androgen end-organ functions, suggesting that transient disruptionof morphogenetic events in early fetal life may be the predominant underlyingcause.