ESPEYB15 6 Gender Dysphoria and Disorders of Sex Development When should an extensive genetic investigation be performed? (2 abstracts)
6.16 Family history is under-estimated in children with isolated hypospadias: a French multicenter report of 88 families
Ollivier M , Paris F , Philibert P , Garnier S , Coffy A , Fauconnet-Servant N , Haddad M , Guys JM , Reynaud R , Faure A , Merrot T , Wagner K , Bréaud J , Valla JS , Dobremez E , Gaspari L , Daures JP , Sultan C & Kalfa N
Département de Chirurgie et Urologie Pédiatrique, Hôpital Lapeyronie, CHU de Montpellier et Université Montpellier, Montpellier, France
To read the full abstract: J Urol. 2018 Apr 30. pii: S0022-5347(18)43073-X
[Comments on 6.15 and 6.16] There is ongoing discussion regarding when extended genetic tests are indicated in DSD. There is also a discussion regarding what should be included in the definition of DSD. Are mild forms of hypospadias a type of DSD and where should we draw the line for more extensive investigations? Both of these papers present data in favour of more frequent investigations, even in some mild cases.
First, Portnoi et al. (6.15) report that SOX8 is expressed in the developing gonad in humans, is of importance for sex determination and mutations can cause a large spectrum of severity. Two patients with 46,XY DSD had chromosomal arrangements involving the HMG-box of SOX8. The authors also analyzed SOX8 in infertile men (n= 274) and women (n= 257). Mutations in SOX8 were more common in infertile men (3.5%) and in women with premature ovarian failure (5.1%) than in controls. The results strengthening the notion that factors causing DSD in some patients can, in a less severe form, cause infertility in others. This finding extends the discussion about which patients should undergo extensive genetic investigations of the sex development pathways.
Family history on fertility issues has an important clinical bearing, and can serve to guide the genetic investigations. In addition, mutations identified to cause infertility may contribute important information for understanding sex differentiation and development. Previously, familial clustering of hypospadias was reported as ~10% and the risk of recurrence in male siblings to be ~15%.
Ollivier et al. (6.16) report a French multicenter study showing that hereditary cases are considerably more common than previously thought. Family histories should be taken more carefully. When the authors asked about heredity in a structured way, and on two occasions, a substantial number of cases were revealed to have one or more relatives with genital anomalies. Such information should prompt a more extensive genetic investigation. Hence, repeated questioning of family history, both concerning genetic anomalies and infertility, are important and should inform further genetic investigations. Familial cases of hypospadias are not more severe; hence, severity should not be the only parameter when deciding about genetic investigations.
Volume 15
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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