Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

American Journal of Medical Genetics. Part a
C H ShackletonW Arlt

Abstract

Antley-Bixler syndrome (ABS, MIM 207410) is a skeletal abnormality syndrome primarily affecting head and limbs. Little is known of the origin of the condition but inactivating mutations in the fibroblast growth factor receptor (FGFR2) has been found in some patients. Genital ambiguity is seen occasionally in this condition, suggesting possible disordered steroidogenesis in early pregnancy. We report the steroid excretion of eight patients diagnosed with the syndrome and one with a related condition, a mild phenotype of the disorder since skeletal and genital abnormalities were not evident. The steroid excretion pattern was consistent and very distinctive in all nine patients. Metabolites of the two primary precursors of steroid hormones, pregnenolone and progesterone, were elevated as were the classical diagnostic metabolites for 17- and 21-hydroxylase deficiencies. Cortisol production was typically within the normal range but generally had blunted response to ACTH. Androgen metabolite excretion tends to be low in patients over 2 months of age, but may be elevated in the newborn period. The metabolome suggested attenuated steroid hydroxylation (including 17,20-lyase activity) although underlying cause is yet to be established. ...Continue Reading

References

Jul 1, 1979·Journal of Steroid Biochemistry·C H ShackletonN F Taylor
Nov 6, 1980·Clinica Chimica Acta; International Journal of Clinical Chemistry·C H Shackleton, J O Whitney
Apr 1, 1993·The Journal of Steroid Biochemistry and Molecular Biology·C H Shackleton
Feb 1, 1996·Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America·T J PursleyJ A Bartley
May 30, 1998·American Journal of Medical Genetics·K ChunP N Ray
Jan 14, 2000·Journal of Medical Genetics·W ReardonR M Winter
Feb 9, 2000·European Journal of Pediatrics·C RothM Lakomek
Oct 25, 2001·Archives of Biochemistry and Biophysics·D C LambM A Kaderbhai
Dec 4, 2001·Genes & Development·P W Ingham, A P McMahon
Jul 13, 2002·American Journal of Medical Genetics·Richard I KelleyEthylin W Jabs
Aug 6, 2002·The Journal of Clinical Endocrinology and Metabolism·Michael P CaulfieldDelbert A Fisher
Jan 18, 2003·Endocrine Research·Richard J Auchus, Manisha K Gupta

❮ Previous
Next ❯

Citations

Oct 26, 2007·Reviews in Endocrine & Metabolic Disorders·Wiebke Arlt
Jun 19, 2009·Pharmacogenetics and Genomics·Sarah C SimMagnus Ingelman-Sundberg
Jul 9, 2010·International Journal of Pediatric Endocrinology·Richard J Auchus
Oct 12, 2010·Journal of Lipid Research·Forbes D Porter, Gail E Herman
Dec 31, 2010·The Journal of Clinical Endocrinology and Metabolism·Jan IdkowiakWiebke Arlt
Dec 14, 2011·The Journal of Clinical Endocrinology and Metabolism·Nils KroneWiebke Arlt
Dec 16, 2011·The Journal of Clinical Endocrinology and Metabolism·Jan IdkowiakWiebke Arlt
Sep 1, 2009·Journal of Clinical Research in Pediatric Endocrinology·John W Honour
Nov 30, 2010·International Journal of Mass Spectrometry·Prabha DwivediHerbert H Hill
Jun 9, 2009·Best Practice & Research. Clinical Endocrinology & Metabolism·Nils Krone, Wiebke Arlt
Jan 17, 2007·Clinical Endocrinology·Nils KroneWiebke Arlt
Jan 27, 2005·Molecular Genetics and Metabolism·Lina S Correa-Cerro, Forbes D Porter
Jun 15, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·Richard J Auchus, Alice Y Chang
Sep 9, 2005·American Journal of Human Genetics·Deborah Cragun, Robert J Hopkin
May 24, 2016·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Yuhei KoyamaTomonobu Hasegawa
Aug 15, 2006·American Journal of Medical Genetics. Part a·L WilliamsonS R Braddock
May 29, 2018·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·Maria L IezziAlberto Verrotti
Apr 4, 2019·PLoS Biology·Walter L Miller, Richard J Auchus
Sep 20, 2019·International Journal of Molecular Sciences·Federico BaronioAntonio Balsamo
Jul 12, 2019·Endocrine Reviews·Karl-Heinz StorbeckCedric H L Shackleton
Dec 12, 2019·The Journal of Clinical Endocrinology and Metabolism·Benjamin DeanR Louise Rushworth
Apr 15, 2010·Current Opinion in Endocrinology, Diabetes, and Obesity·Richard J Auchus
Oct 16, 2019·Proceedings of the National Academy of Sciences of the United States of America·Nicole ReischWiebke Arlt
Jul 22, 2009·Journal of Pediatric Endocrinology & Metabolism : JPEM·Shigeo IijimaTakehiko Ohzeki
Aug 16, 2019·Journal of Translational Medicine·Federica CariatiRossella Tomaiuolo
Jan 17, 2021·Molecular and Cellular Endocrinology·Thomas Alec LightningJonathan Wolf Mueller
Mar 31, 2021·Molecular and Cellular Endocrinology·Sarah D Burris-Hiday, Emily E Scott
Mar 20, 2021·The Journal of Clinical Endocrinology and Metabolism·Jonathan Wolf MuellerMatthias Kroiss
Apr 30, 2017·Journal of Pediatric and Adolescent Gynecology·Selma Feldman Witchel
Sep 20, 2006·Neuro-Chirurgie·D RenierD Marchac

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.