PMID: 6980322Apr 15, 1982Paper

Increased urinary excretion of total 16 alpha-hydroxypregnenolone in newborn infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Klinische Wochenschrift
J Homoki, W M Teller

Abstract

Urinary excretion of total 16 alpha-hydroxypregnenolone (16 alpha-OH-P'O), pregnanetriol (PT), and 11-oxopregnanetriol (11-O-PT) were determined by capillary gas chromatography in 32 healthy neonates and three newborn infants with congenital adrenal hyperplasia (CAH) during the first 4 weeks of life. In the 2nd and 3rd week of life, only the 16 alpha-OH-P'O excretion was pathognomonically elevated in infants with 21-hydroxylase deficiency. The values amounted to 1023, 1611 (age 1--2 weeks), and 2955 micrograms/day (3 weeks of life) compared to much lower levels in healthy peers (2nd week: mean 243, range 0--520 micrograms/day; 3rd week; mean 515, range 66--1541 micrograms/day).

References

Jul 1, 1975·Clinical Endocrinology·E Youssefnejadian, R David
Aug 1, 1974·The Journal of Clinical Endocrinology and Metabolism·A E SchindlerL Siekmann
Nov 1, 1962·The Journal of Clinical Investigation·A M BONGIOVANNI
Aug 1, 1963·Proceedings of the Society for Experimental Biology and Medicine·J W REYNOLDS

❮ Previous
Next ❯

Citations

Jan 1, 1986·Journal of Inherited Metabolic Disease·J Honour

❮ 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.