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Posterior hypospadias and 46 XY dSd: where is the frontier?

A. Moro-Enemuwe, D. Aubert

CHU Besançon, France



Introduction: The incidence of hypospadias varies between 0.3 and 7 for 1000 births. 20% are posterior. Even if in 70% of cases the cause seems undetermined, every hypospadias should be considered an anomaly of sexual differentiation whose pubertary consequences could question the pertinence of the initial choice of sex orientation. To this purpose we have researched the etiologies in our files of posterior hypospadias.

Material and methods: Retrospective study of 67 children admitted for posterior hypospadias. Clinical, endocrinological (pituitary gland, testicular, suprarenal function and hCG and androgenic stimulation tests) and genetic (karyotype and research of mutations in the gene of the androgenic receptors) studies were carried out.

Results: Among the 67 children, 40 had an incomplete evaluation (37 isolated and 3 with associated micropenis or ectopic testicle), 27 had a complete evaluation (13 were malformative, 6 syndromic, 5 gonadal disgenesias and 3 genetic with 2 mutations of the androgenic receptors and 1 mutation of the CYP 21 gene).

Discussion: Among the 27 explored cases, we found no endocrine, testicular or genetic cause when the hypospadias was isolated. On the contrary, when a micropenis or ectopic testicle was present, we found 25% gonadal disgenesia and 15% genetic causes, the rest being either syndromic or malformative.

Conclusion: The pediatricians should be informed that every posterior hypospadias associating a micropenis or a testicular ectopia should undergo an early complete endocrine assesment. All severe insensitivity to androgens gravely compromises the masculine future and should immediately bring the sex orientation into discussion. This decision is particularly difficult for partial androgenic insensitivity with limited response to hormonal stimulations that have to be considerable in order to achieve a mediocre final result. The progress of molecular biology should allow to diminish this uncertainty.


Key words: posterior hypospadias, 46 XY DSD, male pseudohermaphroditism