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==[[Growth hormone deficiency historical perspective|Historical Perspective]]==
==[[Growth hormone deficiency historical perspective|Historical Perspective]]==
In the mid-1940s, [[Growth hormone|bovine GH]] has been purified for the first time then, growth hormone was isolated from the human [[pituitary gland]] in 1956. 7700 children in the United States and 27,000 children worldwide were given GH extracted from human pituitary glands. In 1981, Genentech developed the first [[Recombinant DNA|recombinant]] human GH.


==[[Growth hormone deficiency classification|Classification]]==
==[[Growth hormone deficiency classification|Classification]]==
Growth hormone deficiency can be classified by nature into congenital type in which infants show symptoms such as hypoglycemia, neonatal growth failure, neonatal jaundice, and asphyxia or acquired type presents with severe growth failure, delayed bone age, delayed puberty.


==[[Growth hormone deficiency pathophysiology|Pathophysiology]]==
==[[Growth hormone deficiency pathophysiology|Pathophysiology]]==
The [[Somatotroph|somatotroph cells]] of the anterior pituitary gland produce growth hormone. GH best-known effect is increasing body mass. GH causes [[epiphyseal plate]] widening and cartilage growth. GH deficiency results in alterations in the physiology of different systems of the body, manifesting as altered lipid metabolism, increased subcutaneous visceral fat, decreased muscle mass. Genetic basis of congenital growth hormone deficiency depends on many genes, for example, ''POU1F1'' gene mutations are the most common known genetic cause of combined [[Pituitary gland|pituitary]] hormone deficiency. Gene deletions, f[[Frameshift mutation|rameshift]] mutations, and [[nonsense mutations]] of ''GH1 gene'' have been described as causes of familial GHD.


==[[Growth hormone deficiency causes|Causes]]==
==[[Growth hormone deficiency causes|Causes]]==
Causes of growth hormone deficiency could be congenital or acquired. Congenital causes include genetic mutations in ''POU1F1'', ''PROP-1'', and ''GH-1 genes. Structural causes can cause growth hormone deficiency such as [[optic nerve hypoplasia]], [[Agenesis of the corpus callosum|agenesis of corpus callosum]], [[septo-optic dysplasia]], [[empty sella syndrome]], and [[holoprosencephaly]]. Acquired causes can cause growth hormone deficiency such as GHD following brain surgery and radiation therapy for brain tumors, central nervous system infection, [[craniopharyngioma]], [[pituitary adenoma]].''


==[[Growth hormone deficiency differential diagnosis|Differentiating Growth hormone deficiency from other Diseases]]==
==[[Growth hormone deficiency differential diagnosis|Differentiating Growth hormone deficiency from other Diseases]]==
Growth hormone deficiency in children must be differentiated from other diseases that cause short stature in children such as achondroplasia, constitutional growth delay, familial short stature, growth hormone resistance, Noonan Syndrome, panhypopituitarism, pediatric hypothyroidism, psychosocial short stature, short stature accompanying systemic disease, short stature from abuse and neglect, Silver-Russell Syndrome, and Turner Syndrome.


==[[Growth hormone deficiency epidemiology and demographics|Epidemiology and Demographics]]==
==[[Growth hormone deficiency epidemiology and demographics|Epidemiology and Demographics]]==

Revision as of 00:00, 17 August 2017

Growth hormone deficiency Microchapters

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Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Growth hormone deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

X Ray

CT

MRI

Echocardiography or Ultrasound

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Treatment

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Future or Investigational Therapies

Case Studies

Case #1

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Synonyms and keywords:

Overview

Historical Perspective

In the mid-1940s, bovine GH has been purified for the first time then, growth hormone was isolated from the human pituitary gland in 1956. 7700 children in the United States and 27,000 children worldwide were given GH extracted from human pituitary glands. In 1981, Genentech developed the first recombinant human GH.

Classification

Growth hormone deficiency can be classified by nature into congenital type in which infants show symptoms such as hypoglycemia, neonatal growth failure, neonatal jaundice, and asphyxia or acquired type presents with severe growth failure, delayed bone age, delayed puberty.

Pathophysiology

The somatotroph cells of the anterior pituitary gland produce growth hormone. GH best-known effect is increasing body mass. GH causes epiphyseal plate widening and cartilage growth. GH deficiency results in alterations in the physiology of different systems of the body, manifesting as altered lipid metabolism, increased subcutaneous visceral fat, decreased muscle mass. Genetic basis of congenital growth hormone deficiency depends on many genes, for example, POU1F1 gene mutations are the most common known genetic cause of combined pituitary hormone deficiency. Gene deletions, frameshift mutations, and nonsense mutations of GH1 gene have been described as causes of familial GHD.

Causes

Causes of growth hormone deficiency could be congenital or acquired. Congenital causes include genetic mutations in POU1F1PROP-1, and GH-1 genes. Structural causes can cause growth hormone deficiency such as optic nerve hypoplasiaagenesis of corpus callosumsepto-optic dysplasiaempty sella syndrome, and holoprosencephaly. Acquired causes can cause growth hormone deficiency such as GHD following brain surgery and radiation therapy for brain tumors, central nervous system infection, craniopharyngiomapituitary adenoma.

Differentiating Growth hormone deficiency from other Diseases

Growth hormone deficiency in children must be differentiated from other diseases that cause short stature in children such as achondroplasia, constitutional growth delay, familial short stature, growth hormone resistance, Noonan Syndrome, panhypopituitarism, pediatric hypothyroidism, psychosocial short stature, short stature accompanying systemic disease, short stature from abuse and neglect, Silver-Russell Syndrome, and Turner Syndrome.

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | X-Ray Findings | CT-Scan Findings | MRI Findings | Other Diagnostic Studies | Other Imaging Findings

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

Related Chapters

External links

nl:Groeihormoondeficiëntie


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