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Aanvullende diagnostiek van (peno)scrotale hypospadie

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Tijdschrift voor kindergeneeskunde

Summary

Hypospadias is a congenital anomaly with a prevalence of 2-8/1000 male newborns. In 10-20% of the cases with penoscrotal or perianal hypospadias is found. Many genetic, endocrine and environmental factors are associated with the occurrence of hypospadias. Two recent clinical studies revealed that in about one third of the cases an associated anomaly or even a specific etiology can be ascertained. Therefore it is recommended that in every newborn with penoscrotal or perianal hypospadias a diagnostic protocol is followed. Whenever in a normal boy with 46,XY karyotype no cause for the hypospadias is found after careful (family) history, physical examination and echo(genito)graphy, additional hormonal investigations are warranted in order to exclude an androgen synthesis disorder and the rare partial androgen insensitivity syndrome, enabling appropriate genetic counseling.

Samenvatting

Hypospadie is een congenitale aandoening met een geschatte frequentie van 2-8 per 1000 mannelijke pasgeborenen. In 10-20% van de gevallen betreft het (peno)scrotale of perineale hypospadie. Vele genetische en endocriene factoren en omgevingsfactoren zijn geassocieerd met hypospadie. Uit twee recente studies komt naar voren dat in ongeveer eenderde van de gevallen van penoscrotale of perineale hypospadie een geassocieerde of etiologische aandoening kan worden gevonden. Derhalve verdient het overweging bij iedere pasgeborene met een ernstige ((peno)scrotale of perineale) hypospadie een diagnostisch stappenplan op te stellen. Wanneer bij een overigens normaal jongetje met 46,XY-karyogram bij (familie)anamnese, zorgvuldig lichamelijk onderzoek en beeldvormend onderzoek geen oorzaak voor de hypospadie wordt gevonden, is aanvullend hormonaal onderzoek ter uitsluiting van een testosteronsynthesestoornis en het partiële androgeenongevoeligheidssyndroom aangewezen. Afhankelijk van de bevindingen is vervolgens veelal gerichte genmutatieanalyse mogelijk, zodat genetische adviezen gegeven kunnen worden.

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  1. www.bsl.nl/shop/tydschrift-vkindergeneeskunde-0376-7442.html

    A. L. M. Boehmer

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  1. A. L. M. Boehmer
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  2. S. L. S. Drop
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  3. K. P. Wolffenbuttel
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  4. J. M. Nijman
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Additional information

Mw.dr. A.L.M. Boehmer, arts-assistent, subafdeling Endocrinologie, afdeling Kindergeneeskunde.

Prof.dr. S.L.S. Drop, kinderarts-endocrinoloog, afdeling Kindergeneeskunde.

Mw.drs. K.P. Wolffenbuttel, kinderuroloog, afdeling Kinderurologie.

Dr. J.M. Nijman, kinderuroloog, afdeling Kinderurologie. Academisch Ziekenhuis Rotterdam, Sophia Kinderziekenhuis.Correspondentieadres: Prof.dr. S.L.S. Drop, afdeling Kindergeneeskunde/Endocrinologie, Academisch Ziekenhuis Rotterdam, Sophia Kinderziekenhuis, Postbus 2060, 3015 GJ Rotterdam.

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Boehmer, A.L.M., Drop, S.L.S., Wolffenbuttel, K.P. et al. Aanvullende diagnostiek van (peno)scrotale hypospadie. KIND 70, 64–67 (2002). https://doi.org/10.1007/BF03061374

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