Presentation
At present, patients suffering from IGHD-2 are treated with daily injections of recombinant human GH (rhGH) in order to reach normal height. [ncbi.nlm.nih.gov]
Additionally, patients with GHD from organic causes such as tumors and radiation, in which no gender bias should be present, were still 62% male. [rarediseases.org]
Because the structure of the infant’s larynx, high-pitched voice in present also in adults. [doctortipster.com]
Moreover, because positive responses are found in most GHD patients ( 7 ), some degree of insensitivity to GH was present in our two patients. [clinchem.aaccjnls.org]
Approximately 50% of males present in the first few months of life, whereas the remaining boys present more insidiously later in childhood. [clinicaladvisor.com]
Entire Body System
- Short Stature
short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature ( N25.0 ) Russell-Silver syndrome ( Q87.1 ) short-limbed stature with immunodeficiency ( D82.2 ) short stature in specific dysmorphic syndromes - code to syndrome [icd10data.com]
Individuals with this mutation have releasable GH stores, but GH secretion is severely reduced resulting in short stature. [abstracts.eurospe.org]
Short stature disorders do not include familial short stature — short height that's considered a normal variation with normal bone development. [mayoclinic.org]
ACMG practice guideline: genetic evaluation of short stature. Genet Med. 2009 Jun;11(6):465-70. doi: 10.1097/GIM.0b013e3181a7e8f8. Erratum in: Genet Med. 2009 Oct;11(10):765. Wit JM, Kiess W, Mullis P. Genetic evaluation of short stature. [ghr.nlm.nih.gov]
Idiopathic short stature GH treatment in idiopathic short stature (where there is normal GH secretion) has been shown to accelerate bone age and puberty. [pharmaceutical-journal.com]
- Pseudotumor
Adverse events seen particularly in children have included transient idiopathic intracranial hypertension (also known as pseudotumor cerebri), gynecomastia, and slipped capital femoral epiphysis. [emedicine.medscape.com]
[…] carpal tunnel syndrome are seen more often in adults than children, and may be the result of fluid retention caused by GH. 67 Adverse events seen particularly in children have included transient idiopathic intracranial hypertension (IIH, also known as pseudotumor [touchendocrinology.com]
[…] from Japan but this has not been confirmed in further Japanese studies, nor in much larger European/United States data sets. 23 Panel 4: Potential side effects of GH treatment Salt and water retention Possible glucose intolerance and hyperinsulinism Pseudotumor [pharmaceutical-journal.com]
- Swelling
The most common side effects reported are: An injection site reaction such as pain, numbness, redness, and swelling Muscle and joint pain Tingling and numbness Unusual skin sensations Headache Adults also commonly report swelling associated with fluid [saizenus.com]
They include: Headaches Muscle or joint pain Mildly underactive thyroid gland Swelling of hands and feet Curvature of the spine (scoliosis) Development of breast tissue in boys Rare but serious side effects include: Severe headache with vision problems [hormone.org]
Respiratoric
- High Pitched Voice
Because the structure of the infant’s larynx, high-pitched voice in present also in adults. [doctortipster.com]
They may also demonstrate truncal obesity, a high pitched voice, and delayed closure of the sutures of the skull, causing delayed closure of the fontanelles. Growth increments are the most important criteria in the diagnosis of GHD in children. [rarediseases.org]
He had a high-pitched voice. Download Figure Figure 1 Fifty-six-year-old male patient, with 6.7 kb deletion in GH1 gene and height 123 cm. [edmcasereports.com]
The phenotypic characteristic features of severe GHD are immature faces, prominent forehead, depressed midline development, single central incisor, optic nerve hypoplasia, thin and sparse hair, slow nail growth, high‐pitched voice, low muscle bulk, increased [intechopen.com]
Musculoskeletal
- Severe Short Stature
Several family members had severe short stature, including one parent of each index case. The pedigrees of the two nonconsanguineous families are shown in the Data Supplement. [clinchem.aaccjnls.org]
Conclusion: We present a family with IGHD II, with severe short stature, no phenotypic characteristics of GHD and a novel nonsense mutation in exon 3 of the GH1 gene. [karger.com]
However, in the work carried out by Wagner et al. (2), the absolute frequency of GH1 gene deletions in a cohort of severe short stature ( s.d .) was 12.5% (19/151), especially in those of an Asian origin. [edmcasereports.com]
In pre‐pubertal short children, the most common symptoms of idiopathic GHD are short stature and reduced growth velocity for age. [intechopen.com]
- Myalgia
[…] which has been found to be efficacious, safe, well-tolerated, once-weekly treatment of adult patients with GHD. [59] Most adverse effects include fluid retention (5-18%), hypertension, paresthesias, joint stiffness, peripheral edema, arthralgia, and myalgias [ijem.in]
Overall, rhGH is believed to be safe and significant side-effects in children are very rare, including benign intracranial hypertension, hyperglycaemia, arthralgia and myalgia. [intechopen.com]
- Decrease in Height
Height less than -1.5 SD below the mid‐parental height; Height less than -2 SD below mean and either height velocity less than -1 SD below mean over the past year or decrease in height SD of more than 0.5 SD over the past year; In the absence of short [intechopen.com]
Urogenital
- Renal Insufficiency
"Chronic renal failure: an overview from a pediatric perspective". Nephron. 80 (2): 134–48. doi : 10.1159/000045157. PMID 9736810. ^ a b Molitch ME, Clemmons DR, Malozowski S, et al. (May 2006). [en.wikipedia.org]
insufficiency, liver disease, hypothyroidism, etc.) and genetic conditions that impact growth (skeletal dysplasias, familial short stature, Russell-Silver Syndrome, Turner Syndrome, etc.). [magicfoundation.org]
Workup
Serum
- Hyperglycemia
[…] joint pain Tingling and numbness Unusual skin sensations Headache Adults also commonly report swelling associated with fluid retention especially in the legs, arms, and face Other less common but serious side effects of SAIZEN are: High blood sugar (hyperglycemia [saizenus.com]
While GHD or insensitivity might be associated with hypoglycemia in children, in adults hyperglycemia is common. [edmcasereports.com]
Despite the sharp increases in insulin secretion in the adolescents, the amount of glucose needed to maintain hyperglycemia was similar in all three groups. [healio.com]
Treatment
Treatment is expensive, costing as much as US $10,000 to $40,000 a year in the USA. [en.wikipedia.org]
Beneficial effects of growth hormone (GH) treatment in GH deficient adults. Lancet 1989;1:1221-5. 18.Gertner JM. Growth hormone treatment in children. [pharmaceutical-journal.com]
In some children, GH can lead to four inches (10 centimeters) of growth during the first year of treatment. Others grow less, but usually faster than without treatment. Some children need treatment until adolescence; others need it into adulthood. [hormone.org]
Treatment of Adult Growth Hormone Deficiency and Hypopituitarism (top) The current treatment for AGHD in the United States is rhGH that is approved as safe and efficacious by the U.S. Food and Drug Administration. [hgfound.org]
Many people respond very well to treatment. The sooner you start treatment, the better your results will be. [healthline.com]
Prognosis
Outlook for Growth Hormone Deficiency The prognosis is determined by the patient’s response to growth hormone replacement therapy and the underlying cause of the deficiency. Muscle mass may increase. The patient may lose weight. [emedicinehealth.com]
Long-term Follow-up and Prognosis Patients treated for acromegaly need to be monitored to make sure that GH excess does not return. [londonendocrinecentre.co.uk]
[…] edit ] Headaches Joint pain and muscle pain Fluid retention, and carpal tunnel syndrome Mild hypertension Visual problems Nausea and vomiting Paraesthesiae Antibody formation Reactions at the injection site Rarely, benign intracranial hypertension. [7] Prognosis [en.wikipedia.org]
In contrast to acquired hypopituitarism cases, congenital severe GHD cases have much lower serum IGF1 levels and have never been exposed to GH and thus they may not be equivalent in terms of GH/IGF1 axis disturbances and health prognosis. [edmcasereports.com]
Long‐term follow‐up evaluation of magnetic resonance imaging in the prognosis of permanent GH deficiency. Eur J Endocrinol. 2000; 143 :493–496. [intechopen.com]
Etiology
Abstract Isolated growth hormone deficiency (IGHD) is the commonest pituitary hormone deficiency resulting from congenital or acquired causes, although for most patients its etiology remains unknown. [ncbi.nlm.nih.gov]
Of more than 20,000 children receiving growth hormone in the National Cooperative Growth Study (a database of patients receiving growth hormone therapy), approximately 25% of the patients with growth hormone deficiency had an organic etiology. [emedicine.medscape.com]
J Clin Endocrinol Metab 92: 10–25 CrossRef PubMed Google Scholar Brito VN, Latronico AC, Arnhold IJ et al. (2008) Update on the etiology, diagnosis and therapeutic management of sexual precocity. [springerlink.com]
[…] morphology in congenital lifetime isolated growth hormone deficiency. ( 27552668 ) Pereira-Gurgel V.M....Aguiar-Oliveira M.H. 2016 22 Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology [malacards.org]
“Idiopathic GHD” is GHD of unknown origin or etiology. [hgfound.org]
Epidemiology
Dtsch Arztebl Int 106: 377–382 PubMedCentral PubMed Google Scholar Gravholt CH (2004) Epidemiological, endocrine and metabolic features in Turner syndrome. [springerlink.com]
Genatlas disease for GH1 Gene dwarfism (GH-N deficiency,isolated),autosomal recessive and rare dominant forms Relevant External Links for GH1 Genetic Association Database (GAD) GH1 Human Genome Epidemiology (HuGE) Navigator GH1 Tumor Gene Database (TGDB [genecards.org]
Second, epidemiological studies have shown a relationship between tall statue and cancer risk, between insulinlike growth factor I (IGF-I) levels and the risk of prostate cancer, and an increase in breast cancer associated with levels of free IGF-I. [emedicine.medscape.com]
However, it may be that those adults with poor QoL at the start of treatment do benefit. [7] Epidemiology [ edit ] The incidence of idiopathic GHD in infants is about 1 in every 3800 live births, [16] and rates in older children are rising as more children [en.wikipedia.org]
ADULT GROWTH HORMONE DEFICIENCY EXPLAINED Nature and Physiology of Growth Hormone Classification of Growth Hormone Deficiency Epidemiology of Growth Hormone Deficiency Diagnosis of Adult Growth Hormone Deficiency Treatment of Adult Growth Hormone Deficiency [hgfound.org]
Pathophysiology
The pathophysiology for this positive results appears to be the natural mediatory and regulatory effects of rhGH on the neurotransmitters of the central nervous system (CNS), which seem to perform better than psychotropic drugs. [hgfound.org]
N Engl J Med 358: 709–715 CrossRef PubMedCentral PubMed Google Scholar Themmen APN, Huhtaniemi IT (2000) Mutations of gonadotropins and gonadotropin receptors: Elucidating the physiology and pathophysiology of pituitary-gonadal function. [springerlink.com]
Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives. Horm Res 2001 ; 55 (Suppl 2): 32 -35. ↵ Chen EY, Liso YC, Smith DH, Barrera-Saldana HA, Gelinas RE, Seeburg PH. [clinchem.aaccjnls.org]
Pathophysiology [ edit ] As an adult ages, it is normal for the pituitary to produce diminishing amounts of GH and many other hormones, particularly the sex steroids. [en.wikipedia.org]
Prevention
However, this type of replacement therapy, although effective in terms of growth, does not prevent toxic effects of the 17.5-kD mutant on the pituitary gland, which can eventually lead to other hormonal deficiencies. [ncbi.nlm.nih.gov]
Mutations in the GH1 gene prevent or impair the production of growth hormone. [ghr.nlm.nih.gov]
Most cases are not preventable. Review your child's growth chart with the pediatrician at each checkup. If there is concern about your child's growth rate, evaluation by a specialist is recommended. [medlineplus.gov]
Read more about Brain and spinal cord tumours Refeeding guideline The purpose of this clinical guideline is to support staff with the recognition, prevention and treatment of refeeding syndrome in children and young people who have experienced a period [gosh.nhs.uk]
Growth Disorders Lifestyle and Prevention For children : Because growth hormone is taken for years, it is good for parents of children with GHD to be aware of some safety precautions: Carefully follow the directions for taking GH Tell all doctors who [londonendocrinecentre.co.uk]