Genetic Defects in Processing Growth Hormone

Author(s):  
John A. Phillips
1998 ◽  
Vol 49 (Suppl. 1) ◽  
pp. 9-14 ◽  
Author(s):  
Joseph M. Gertner ◽  
Michael P. Wajnrajch ◽  
Rudolph L. Leibel

1982 ◽  
Vol 92 (3) ◽  
pp. 405-407 ◽  
Author(s):  
J. A. PHILLIPS ◽  
W. G. BEAMER ◽  
A. BARTKE

Restriction endonuclease analysis of genomic DNA was carried out for three types of dwarf mice (Little, Ames dwarf and Snell dwarf) that have genetic defects in GH expression. We found the GH genes to be present in homozygotes for each mutant allele as well as in their control litter-mates. These three types of dwarf mice may be useful in studying the molecular basis of inherited GH deficiency and as models for analogous genetic disorders of human GH expression.


2020 ◽  
Vol 10 (5) ◽  
pp. 93-99
Author(s):  
Ljudmila V. Tyrtova ◽  
Aleksej S. Olenev ◽  
Natalja V. Parshina ◽  
Christina V. Skobeleva

Pituitary gigantism is a disease caused by an excess of growth hormone and characterized by tallness with a proportional increase in all parts of the body. Almost always in patients with pituitary gigantism found pituitary adenoma, producing growth hormone (somatotropin). In rare cases, there is excess production of somatoliberin by the hypothalamus or tumors outside the brain. Somatotropinoma can be sporadic or caused by a disease with genetic defects: multiple endocrine neoplasia type 1, McCuneAlbright syndrome, Carney complex, X-LAG syndrome, AIP-mutation. All associated with genetic defects somatotropinoma more invasive and less amenable to drug therapy than sporadic. Clinical recommendations (protocols) for the treatment of pituitary gigantism in children currently does not exist. The issue of preliminary medical treatment to improve the outcome of neurosurgical interventions has not been resolved, and further methodologically based studies are needed to clarify this point. The article presents a clinical case of pituitarygigantism caused by pituitary adenoma, which produces growth hormone in a 12-year-old boy. The diagnosis was established on the basis of clinical and anamnestic, laboratory data and magnetic resonance imaging. Clinical and laboratory manifestations of hypopituitarism and diabetes insipidus, visual field disorders, neurological symptoms, as well as signs of genetic diseases in the patient were not noted. Treatment with bromocriptin gave a partial positive effect: the size of the formation in the pituitary gland decreased, but the target hormonal parameters were not achieved. A trial administration of octreotide subcutaneously was carried out, as a result of which the level of growth hormone decreased to the target values, no side effects of the drug were noted, which led to the choice of a conservative method as the first line of therapy. Thedecision to treat with bromocryptine in combination with octreotide extended action. The dynamics of tumor sizeonthebackgroundofconservative therapy will answer the question of the need for subsequent neurosurgical treatment.


Author(s):  
Majid Firouzi ◽  
Hamidreza Sherkatolabbasieh ◽  
Shiva Shafizadeh

: Several different proteins regulate, directly or indirectly, the production of growth hormone from the pituitary gland, thereby complex genetics is involved. Defects in these genes are related to growth hormone deficiency solely, or deficiency of other hormones, secreted from the pituitary gland including growth hormone. These studies can aid clinicians to trace the pattern of the disease between the families, start early treatment and predict possible future consequences. This paper highlights some of the most common and novel genetic anomalies concerning growth hormone, which are responsible for various genetic defects in isolated growth and combined pituitary hormone deficiency disease.


2000 ◽  
Vol 11 (2) ◽  
pp. 39-49 ◽  
Author(s):  
Abel López-Bermejo ◽  
Caroline K. Buckway ◽  
Ron G. Rosenfeld

1971 ◽  
Vol 6 (2) ◽  
pp. 113-124
Author(s):  
David L. Rimoin

2011 ◽  
Vol 2 ◽  
Author(s):  
Martin O. Savage ◽  
Vivian Hwa ◽  
Alessia David ◽  
Ron G. Rosenfeld ◽  
Louise A. Metherell

Sign in / Sign up

Export Citation Format

Share Document