Growth hormone neurosecretory dysfunction associated with ring chromosome 18

Acta Paediatrica Japonica; Overseas Edition
S AritakiL Jun

Abstract

The patient was a girl 5 years and 1 month old of markedly short stature (-3.9 SD) for her chronological age. Although her karyotype was 46, XX, r(18)(p11q23), there were no symptoms of a chromosomal deletion. Other authors have described cases with a ring autosome showing a phenotype with short stature alone as 'ring syndrome', regardless of which autosome is involved. The present case seems to fall into this category. Although blood growth hormone (GH) showed normal responses to four types of provocative tests, the mean value of blood GH levels obtained at 30 min intervals for 24 h was low, indicating the existence of growth hormone neurosecretory dysfunction (GHND).

References

Sep 1, 1988·Archives of Disease in Childhood·S S AbusrewilD C Savage
Jun 1, 1987·The Journal of Pediatrics·B B Bercu

❮ Previous
Next ❯

Citations

Nov 8, 2005·Hormone Research·Serap TuranAbdullah Bereket
Feb 1, 2012·Journal of Child Neurology·Ruba BeniniGenevieve Bernard
Jun 26, 2001·American Journal of Medical Genetics·P StankiewiczJ Limon
Jan 25, 2005·American Journal of Medical Genetics. Part a·David J AmorK H Andy Choo
Nov 16, 2016·Case Reports in Endocrinology·Edward J BellfieldClaudia Boucher-Berry
Dec 13, 2006·Arquivos brasileiros de endocrinologia e metabologia·Juliana V ThomasMarilia M Guimarães
Oct 29, 2009·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Takashi OnoKeiji Moriyama

❮ 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.