title: [Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency].
abstract: We report a case of X-linked adrenal hypoplasia associated with glycerol kinase deficiency in a boy. Cytogenetic studies and X-linked probes did not demonstrate deletion at Xp21. These probes are not informative enough to be used in prenatal diagnosis. This diagnosis was achieved by glycerol concentration assay in amniotic fluid and by maternal plasma estriol assay.
authors.affiliation: Service de Pédiatrie et Génétique, CHRU, Clermont-Ferrand.
authors.forename: G
authors.initials: G
authors.lastname: Malpuech
authors.forename: B
authors.initials: B
authors.lastname: Dastugue
authors.forename: G
authors.initials: G
authors.lastname: Giraud
authors.forename: P
authors.initials: P
authors.lastname: Jouanel
authors.forename: P
authors.initials: P
authors.lastname: Vanlieferinghen
authors.forename: H
authors.initials: H
authors.lastname: Carla
mesh_terms: D000311:Adrenal Glands / Q000002:abnormalities*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D008040:Genetic Linkage; D005991:Glycerol Kinase / Q000172:deficiency*; D006801:Humans; D008297:Male; D010375:Pedigree; D010770:Phosphotransferases / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome
chemical_list: D010770:Phosphotransferases; D005991:Glycerol Kinase
vernacular_title: Diagnostic prénatal de l'hypoplasie surrénale liée a l'X (HS) associée à un déficit en glycerol kinase (GK).