Reference : Delayed puberty in a girl due to an inactivating mutation of the LH receptor
Scientific congresses and symposiums : Poster
Human health sciences : Endocrinology, metabolism & nutrition
http://hdl.handle.net/2268/176561
Delayed puberty in a girl due to an inactivating mutation of the LH receptor
English
[fr] Retard pubertaire féminin révélant une mutation du récepteur de la LH
FUDVOYE, Julie mailto [Centre Hospitalier Universitaire de Liège - CHU > pédiatrie > > >]
PARENT, Anne-Simone [Centre Hospitalier Universitaire de Liège - CHU > > Pédiatrie >]
Bourguignon, Jean-Pierre [Université de Liège - ULiège > Département des sciences cliniques > Pédiatrie >]
Mar-2012
120 cmx90cm
Yes
No
National
Congrès de la société belge de pédiatrie
du 23 au 24 mars 2012
Belgium
[en] pediatric endocrinolgy ; LH receptor mutation
[en] We report the case of a 46 XY patient with a disorder of sex differentiation (DSD) caused by an inactivating mutation of the LH receptor. Mutations of genes involved in hypothalamic-pituitary-gonadal function are rare but they provide an experience of nature for understanding the physiology and the pathophysiology of gonadotropins actions. There arise from correlation between the phenotypes and genotypes in those unique conditions. Management of this particular patient with no LH activity involves oestrogen replacement therapy to induce breast development together with a gonadectomy due to the risk of gonadoblastoma in streak gonads.
http://hdl.handle.net/2268/176561

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