New / Levine Congenital Adrenal Hyperplasia

Erscheinungsjahr 2012
ISBN: 978-3-642-82011-3
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, Band 26, 90 Seiten, eBook

Reihe: Monographs on Endocrinology

Zielgruppe

Research

Autoren/Hrsg.

New, M.I.

Levine, L.S.

Inhaltsverzeichnis

1 Steroidogenesis and Enzymatic Conversions of Adrenal Steroid Hormones.- A. Steroidogenesis.- B. Mechanism of Adrenal Steroid Regulation.- 2 Fetal Sexual Development.- 3 Enzyme Defects.- A. 21-Hydroxylase Deficiency.- B. 11?-Hydroxylase Deficiency.- C. 3?-Hydroxysteroid Dehydrogenase Deficiency.- D. 17a-Hydroxylase Deficiency.- E. Cholesterol Desmolase Deficiency.- F. Corticosterone Methyloxidase Deficiency.- G. 17?-Hydroxysteroid Dehydrogenase Deficiency.- H. 17,20-Lyase Deficiency.- 4 Recent Advances: The Fasciculata and Glomerulosa as Two Distinct Glands.- A. 11?-Hydroxylase Deficiency.- B. 21-Hydroxylase Deficiency.- C. 17?-Hydroxylase Deficiency.- D. 3?-Hydroxysteroid Dehydrogenase Deficiency.- 5 Treatment.- A. Endocrine Treatment.- B. Sex Assignment.- 6 Pubertal Development.- A. 21-Hydroxylase Deficiency.- B. 11?-Hydroxylase Deficiency.- C. 3?-Hydroxysteroid Dehydrogenase Deficiency.- D. 17?-Hydroxylase Deficiency.- E. Cholesterol Desmolase Deficiency.- F. Corticosterone Methyloxidase Deficiency: Types I and II.- G. 17?-Hydroxysteroid Dehydrogenase Deficiency.- H. 17,20-Lyase Deficiency.- 7 Genetics.- A. Population Studies.- B. HLA Linkage.- C. Heterozygote Detection.- D. Genetic Linkage Disequilibrium.- E. Nonclassical 21-Hydroxylase Deficiency.- F. Hormonal Standards for Genotyping 21-Hydroxylase Deficiency.- G. Allelic Variants.- H. Clinical Spectrum of 21-Hydroxylase Deficiency:.- Phenotypic Variability.- I. HLA Linkage to Other Enzyme Defects of Steroidogenesis.- J. Screening and Future Population Studies.- 8 Prenatal Diagnosis.- A. 21-Hydroxylase Deficiency.- B. 11 ?-Hydroxylase Deficiency.- C. Cholesterol Desmolase Deficiency.- Summary.- References.