scholarly journals Multiple hormonal resistance and metabolic disorders in pseudogypoparatiosis

2018 ◽  
Vol 15 (2) ◽  
pp. 51-55
Author(s):  
Larisa K Dzeranova ◽  
Nadezhda V Makazan ◽  
Ekaterina A Pigarova ◽  
Anna N Tiuliakova ◽  
Ekaterina V Artemova ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Metabolic Disorders ◽  
Clinical Case ◽  
Phosphorus Metabolism ◽  
Gnas Gene ◽  
Calcium Phosphorus ◽  
Hormonal Resistance ◽  
Main Component ◽  
Gonadotropic Hormones ◽  
Rare Group

Pseudohypoparathyroidism is a rare group of clinically and genetically heterogeneous diseases caused by the inactivation of the PTH-signaling pathway. The main component of the disease is resistance to PTH, causing a disturbance of calcium-phosphorus metabolism. With pseudohypoparathyroidism, there may also be a development of insensitivity to thyrotropic and gonadotropic hormones of the pituitary gland and the formation of characteristic clinical features in the form of subcutaneous calcifications, brachidactyly, obesity, stuntedness, mental retardation. This article describes the clinical case of pseudohypoparathyroidism in a 35-year-old woman with classic phenotypic hypoparathyroidism with hereditary Albright osteodystrophy and a proven mutation in the GNAS gene, and discusses the spectrum of metabolic disorders of the disease.

scholarly journals Multiple hormonal resistance and metabolic disorders in pseudogypoparatiosis

2018 ◽  
Vol 15 (2) ◽  
pp. 51-55
Author(s):  
Larisa K. Dzeranova ◽  
Nadezhda V. Makazan ◽  
Ekaterina A. Pigarova ◽  
Anna N. Tiuliakova ◽  
Ekaterina V. Artemova ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Metabolic Disorders ◽  
Clinical Case ◽  
Phosphorus Metabolism ◽  
Gnas Gene ◽  
Calcium Phosphorus ◽  
Hormonal Resistance ◽  
Main Component ◽  
Gonadotropic Hormones ◽  
Rare Group

Pseudohypoparathyroidism is a rare group of clinically and genetically heterogeneous diseases caused by the inactivation of the PTH-signaling pathway. The main component of the disease is resistance to PTH, causing a disturbance of calcium-phosphorus metabolism. With pseudohypoparathyroidism, there may also be a development of insensitivity to thyrotropic and gonadotropic hormones of the pituitary gland and the formation of characteristic clinical features in the form of subcutaneous calcifications, brachidactyly, obesity, stuntedness, mental retardation. This article describes the clinical case of pseudohypoparathyroidism in a 35-year-old woman with classic phenotypic hypoparathyroidism with hereditary Albright osteodystrophy and a proven mutation in the GNAS gene, and discusses the spectrum of metabolic disorders of the disease.

scholarly journals Primary Hyperparathyroidism Due to Parathyroid Adenoma: Clinical Case

2021 ◽  
Vol 11 (1) ◽  
pp. 76-80
Author(s):  
A. E. Shklyaev ◽  
A. M. Khisamutdinova ◽  
A. G. Bessonov ◽  
O. V. Muravtseva ◽  
A. V. Kobelev ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Phosphorus Metabolism ◽  
Elevated Blood ◽  
Blood Calcium ◽  
Endocrine Disease ◽  
Calcium Phosphorus ◽  
Excessive Secretion ◽  
Indication For Surgical Treatment

Primary hyperparathyroidism (PGPT) is an endocrine disease characterized by excessive secretion of parathyroid hormone (PTH) in upper — normal or elevated blood calcium levels due to primary parathyroid gland pathology (osch). Primary hyperparathyrosis, depending on the clinical manifestations, can occur in the normocalcemic, mild and manifest form. This article presents a clinical case of the development of the manifest form by the type of visceral disorders. Which appeared in the form of pathology of the gastrointestinal tract. This form of the disease is an indication for surgical treatment and further correction of calcium-phosphorus metabolism.

Abstract #1017 Parathyroid Function in Hyperthyroidism in Relation to Calcium-Phosphorus Metabolism

2018 ◽  
Vol 24 ◽  
pp. 226-227
Author(s):  
Ayotunde Ale ◽  
Olatunbosum Olawale ◽  
Onyido Okwuchi ◽  
Sunday Ogundele ◽  
Anthonia Ogbera
Keyword(s):  
Phosphorus Metabolism ◽  
Parathyroid Function ◽  
Calcium Phosphorus

Observations on the mineral metabolism of pullets. II

1936 ◽  
Vol 26 (1) ◽  
pp. 85-100 ◽  
Author(s):  
R. H. Common
Keyword(s):  
Calcium Carbonate ◽  
Egg Production ◽  
Mineral Metabolism ◽  
Ammonium Phosphate ◽  
Ammonia Nitrogen ◽  
Egg Laying ◽  
Phosphorus Metabolism ◽  
Phosphorus Excretion ◽  
Calcium Phosphorus ◽  
Digestible Protein

1. Where heavy phosphorus excretion accompanies egg laying in the pullet the excretion of ammonia nitrogen is simultaneously increased. It is probable that this indicates an excretion of excess phosphate in the urine as ammonium phosphate.2. It is shown that heavy phosphorus excretion does not accompany egg laying provided the calcium carbonate intake is sufficiently high.3. The origin of the excess of phosphorus excretion is discussed in relation to calcium-phosphorus metabolism.4. Pullets on a ration containing 5 per cent, calcium carbonate laid eggs containing a higher percentage of P2O5 than pullets receiving a similar ration but from which the calcium carbonate supplement was omitted.5. Some evidence is put forward in support of the view that current standards pitch the requirements of digestible protein for egg production at too high a level.

ELECTROENCEPHALOGRAPHIC AND ETIOLOGIC FINDINGS IN MENTAL RETARDATION

PEDIATRICS ◽  
1963 ◽  
Vol 31 (3) ◽  
pp. 478-485
Author(s):  
Gerald D. LaVeck ◽  
Felix de la Cruz
Keyword(s):  
Mental Retardation ◽  
Metabolic Disorders ◽  
Mentally Retarded ◽  
Motor Dysfunction ◽  
Diagnostic Aid ◽  
Mentally Retarded Children ◽  
Mental Subnormality ◽  
Etiologic Diagnosis

A series of 578 institutionalized mentally retarded patients was evaluated by a multi-discipline approach in order to establish a presumptive etiologic diagnosis. Abnormal electroencephalographic findings were found to be related to the age of the patient, the severity of retardation, and the presence of seizures or motor dysfunction. In this series 65.9% had abnormal tracings, and the most frequent abnormality was a focal change in 18.7%. However, focal abnormalities correlated with seizures and motor dysfunction so that no specific electroencephalographic aberration was characteristic of mental subnormality. Abnormal tracings were most frequent in nonseizure patients when subnormality was caused by intoxication, new growths, metabolic disorders, infectious processes, trauma, and encephalopathy of unknown cause in decreasing order of frequency. Abnormalities were seen in 36.4% of "cultural-familial" defectives and those whose intellectual defect was presumably due to psychologic factors. It is believed that electroencephalography is a valuable diagnostic aid in the evaluation of mentally retarded children.

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