title: Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life.
abstract: Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1. We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detection by fetal ultrasound: syndactyly or unilateral renal agenesis in subjects with respectively FGFR1 and KAL1 mutations. In relevant family history, ultrasound monitoring can detect KS associated signs before birth and thus enable neonatal diagnosis and early management. These observations also underline the importance of genetic counselling for patients who may transmit KS to their offspring.
authors.affiliation: Univ Paris-Sud, Le Kremlin Bicêtre, F-94276, France.|Assistance Publique-Hôpitaux de Paris, Bicêtre Hospital, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France.|Department of Reproductive Endocrinology, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Sarfati
authors.affiliation: Univ Paris-Sud, Le Kremlin Bicêtre, F-94276, France.|Assistance Publique-Hôpitaux de Paris, Bicêtre Hospital, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France.|Department of Pediatric Endocrinology, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France.
authors.forename: Claire
authors.initials: C
authors.lastname: Bouvattier
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Bicêtre Hospital, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France.|Department of Reproductive Endocrinology, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Bry-Gauillard
authors.affiliation: Assistance Publique-Hôpitaux de Paris, Bicêtre Hospital, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France.|Department of Reproductive Endocrinology, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France.
authors.forename: Alejandra
authors.initials: A
authors.lastname: Cartes
authors.affiliation: Univ Paris-Sud, Le Kremlin Bicêtre, F-94276, France.|INSERM UMR-1185, Le Kremlin Bicêtre, F-94276, France.|Assistance Publique-Hôpitaux de Paris, Bicêtre Hospital, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France.|Molecular Genetics and Hormonology Department, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France.
authors.forename: Jérôme
authors.initials: J
authors.lastname: Bouligand
authors.affiliation: Univ Paris-Sud, Le Kremlin Bicêtre, F-94276, France. jacques.young@bct.aphp.fr.|INSERM UMR-1185, Le Kremlin Bicêtre, F-94276, France. jacques.young@bct.aphp.fr.|Assistance Publique-Hôpitaux de Paris, Bicêtre Hospital, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France. jacques.young@bct.aphp.fr.|Department of Reproductive Endocrinology, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, F-94275, France. jacques.young@bct.aphp.fr.
authors.forename: Jacques
authors.initials: J
authors.lastname: Young
mesh_terms: D000328:Adult; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000378:metabolism*; D006801:Humans; D017436:Kallmann Syndrome / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*
chemical_list: C076266:ANOS1 protein, human; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; D051496:Receptor, Fibroblast Growth Factor, Type 1