[Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency].
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.
Malpuech
G
G
Service de Pédiatrie et Génétique, CHRU, Clermont-Ferrand.
Dastugue
B
B
Giraud
G
G
Jouanel
P
P
Vanlieferinghen
P
P
Carla
H
H
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
D010770:Phosphotransferases; D005991:Glycerol Kinase
Diagnostic prénatal de l'hypoplasie surrénale liée a l'X (HS) associée à un déficit en glycerol kinase (GK).