ESPE2015 Poster Category 3 Late Breaking Posters (15 abstracts)
Family History of Genital Malformation is Under-Estimated in Children with Isolated Hypospadias: A Clinical Report of 105 Families
Nicolas Kalfa a , Pascal Philibert b , Sylvie Broussous a , Laura Gaspari b , Amandine Coffy c , Nadège Fauconnet-Servant b , Françoise Audran b , Hélène Lehors d , Jean Michel Guys d , Rachel Reynaud e , Thierry Merrot d , Kathy Wagner f , Jean Bréaud g , Jean Yves Kurzenne g , Florence Bastiani g , Jean Stéphane Valla g , Eric Dobremez h , Jean-Pierre Daures c , Françoise Paris b & Charles Sultan b
aChirurgie Pédiatrique, CHU Montpellier, Montpellier, France; bEndocrinologie Pédiatrique, CHU Montpellier, Montpellier, France; cInstitut de Recherche Clinique, Montpellier, France; dChirurgie Pédiatrique, APHM, Marseille, France; eEndocrinologie Pédiatrique, Marseille, France; fEndocrinologie Pédiatrique, CHU Nice, Nice, France; gChirurgie Pédiatrique, CHU Nice, Nice, France; hChirurgie Pédiatrique, CHU Bordeaux, Bordeaux, France
Background: Severe forms of 46,XY DSD with uncertain sex may have a family history (FH) in ~15–20% of cases. On the other side of the DSD spectrum, data regarding isolated hypospadias is sparse and a FH of genital malformation is thought to be less frequent.
Objective and hypotheses: The aims of the study were i) to determine the frequency of genital abnormalities in families of isolated hypospadiac boys, ii) to determine whether there is a particular phenotype, and iii) to evaluate the prevalence of genetic defects in familial cases.
Method: Prospective inclusion of hypospadiac boys screened for FH with a standardized questionnaire. Extensive clinical description, family tree, DNA sampling and sequencing of androgen receptor, 5α-reductase and SF1 genes were performed.
Results: Out of a series of 395 boys with hypospadias, 105 had a FH of genital malformation (hypospadias n=88 and cryptorchidism n=17). FH was thus more frequent than expected (26.6%). The familial cases were mainly unique (80%, multiple in 20%). Familial hypospadias were more frequently related to the paternal side (53.4% of cases) including the father himself (29.5%), the paternal uncles and/or cousins. Prematurity, use of ART, other congenital abnormalities and postnatal growth retardation were not more frequent in familial hypospadias. The severity of phenotype and ethnicity were not significantly different either. Intrauterine growth retardation tended to be less frequent in familial forms (P=0.07). Mutations of AR and SF1 were more frequent in familial hypospadias (n=5, 5.68% vs 1.60%, P=0.046) (for AR: P392S, Q798E, A475V, P392S; for SF1: D275N).
Conclusion: FH is more frequent in hypospadiac boys than previously reported. It involves more than a quarter of cases. Even isolated and minor hypospadias justify a full interrogation on FH. Detecting these familial forms may justify an etiologic work-up to find out the causative mutation, to improve the follow-up of these patients and to help the familial counseling.
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