[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: G Malpuech, B Dastugue, G Giraud, P Jouanel, P Vanlieferinghen, H Carla
• Journal: Journal de genetique humaine (J Genet Hum) Vol. 37 Issue 2 Pg. 155-62 (Jun 1989) ISSN: 0021-7743 [Print] Switzerland
• Vernacular Title: Diagnostic prénatal de l'hypoplasie surrénale liée a l'X (HS) associée à un déficit en glycerol kinase (GK).
• PMID: 2545811 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Phosphotransferases
• Glycerol Kinase

Topics

• Adrenal Glands (abnormalities)
• Female
• Fetal Diseases (diagnosis, genetics)
• Genetic Linkage
• Glycerol Kinase (deficiency)
• Humans
• Male
• Pedigree
• Phosphotransferases (deficiency)
• Pregnancy
• Prenatal Diagnosis
• X Chromosome