What is the pathophysiology of pituitary gigantism?
Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. Treatment delay increases final height and symptom burden. AIP mutations and X-LAG explain many cases, but no genetic etiology is seen in >50% of cases.
Are patients with pituitary gigantism more aggressive than AIP mutations?
The clinical phenotype of patients with AIP mutations or X-LAG syndrome has shown to be aggressive ( Daly et al. 2010 a, Beckers et al. 2015 ). In this study we noted that genetically unexplained pituitary gigantism patients are even more aggressive (e.g., invasion, hormone levels, lower control rates) than AIP mutation cases.
What causes gigantism in children?
The most common cause of gigantism is a benign (noncancerous) tumor on your child’s pituitary gland (a pituitary adenoma) that releases excess growth hormone (GH). Children with gigantism almost always have large pituitary tumors called macroadenomas (a pituitary adenoma that’s 10 millimeters in diameter or larger) at diagnosis.
What is the differential diagnosis of gigantism?
In summary, the differential diagnosis of gigantism includes a significant number of heterogeneous disorders exhibiting a vast array of clinical and genetic features (204). In most cases, the history, physical examination and adjunctive biochemical and/or molecular genetic testing will ultimately reveal the likely diagnosis.
Is pituitary gigantism hereditary?
Gigantism is a form of familial pituitary adenomas, and may run in some families due to a genetic mutation. Gigantism can also be associated with other conditions, including: Carney complex. McCune-Albright syndrome (MAS)
Can gigantism be passed down?
Gigantism is generally not inherited. There are, however, a number of rare conditions associated with gigantism such as McCune Albright syndrome, neurofibromatosis, Carney complex and multiple endocrine neoplasia type 1 and 4. Gigantism seen in these conditions is still rare.
Can pituitary issues be genetic?
Family history. Most people who develop pituitary tumors don't have a family history of the disease. But rarely, pituitary tumors can run in families. Sometimes when pituitary tumors run in families, they are found along with other types of tumors as part of an inherited genetic syndrome (see the next section).
Who is most likely to get gigantism?
Gigantism is an extremely rare condition that only occurs in children. About 100 cases have been reported in the United States. Gigantism has been reported to occur at a female-to-male ratio of 1:2.
At what age is gigantism diagnosed?
Acromegaly is usually diagnosed in adults aged 30 to 50, but it can affect people of any age. When it develops before the end of puberty, it's known as "gigantism".
What is the life expectancy of someone with gigantism?
Living with gigantism When the condition is successfully treated, children with gigantism can have a normal life expectancy and avoid most of the complications caused by it. However, they may still have symptoms such as muscle weakness and restricted movement, and some may also have psychological problems.
Is enlarged pituitary gland serious?
Most pituitary tumors are not cancerous (benign). They don't spread to other parts of your body. But they can cause the pituitary to make too few or too many hormones, causing problems in the body. Pituitary tumors that make too many hormones will cause other glands to make more hormones.
What are the symptoms of an enlarged pituitary gland?
Signs and symptoms include:Nausea and vomiting.Weakness.Feeling cold.Less frequent or no menstrual periods.Sexual dysfunction.Increased amount of urine.Unintended weight loss or gain.
How quickly do pituitary tumors grow?
Most pituitary tumors are slow growing, approximately 1-3mm/year.
What causes pituitary gigantism?
Gigantism happens when a child has high levels of growth hormone (GH) in their body, which causes them to grow very tall. It's caused by a tumor (macroadenoma) on their pituitary gland.
What height is considered gigantism?
A person should be 7 feet (2.20 meters) tall or more to be considered a giant. Gigantism is a disorder and the medical reason for gigantism is a surplus of growth hormone. If the doctors diagnose gigantism in an early stage, it is possible to slow down the growth.
How do I know if my child has gigantism?
If your child has gigantism, you may notice that they're much larger than other children of the same age. Also, some parts of their body may be larger in proportion to other parts. Common symptoms include: very large hands and feet.
How do you catch gigantism?
Gigantism is very rare. The most common cause of too much GH release is a noncancerous (benign) tumor of the pituitary gland. Other causes include: Genetic disease that affects the skin color (pigmentation) and causes benign tumors of the skin, heart, and endocrine (hormone) system (Carney complex)
Does my baby have gigantism?
The main sign of gigantism is excessive growth. Children with gigantism grow rapidly in height. Aside from being very tall/large for their age, physical characteristics of gigantism include: Very prominent forehead and a prominent jaw.
What height is considered gigantism?
A person should be 7 feet (2.20 meters) tall or more to be considered a giant. Gigantism is a disorder and the medical reason for gigantism is a surplus of growth hormone. If the doctors diagnose gigantism in an early stage, it is possible to slow down the growth.
How tall do you have to be to have gigantism?
In humans, this condition is caused by over-production of growth hormone in childhood, resulting in people 2.4 to 2.7 m (8.0 to 9.0 ft) in height. It is a rare disorder resulting from increased levels of growth hormone before the fusion of the growth plate which usually occurs at some point soon after puberty.
What is pituitary gigantism?
Pituitary gigantism is a rare but very important subgroup of patients with excessive height, as it has an identifiable and clinically treatable cause . The disease is caused by chronic growth hormone and insulin-like growth factor 1 secretion from a pituitary somatotrope adenoma that forms before the closure of the epiphyses.
Why is early diagnosis important for pituitary gigantism?
Early diagnosis and rapid referral for effective therapy appear to improve outcomes in patients with pituitary gigantism; therefore, a high level of clinical suspicion and efficient use of diagnostic resources is key to controlling overgrowth and preventing patients from reaching very elevated final adult heights.
Is pituitary gigantism male or female?
Pituitary gigantism has a male preponderance, and patients usually have large pituitary adenomas. The large tumour size, together with the young age of patients and frequent resistance to medical therapy, makes the management of pituitary gigantism complex.
Abstract
Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way.
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Dive into the research topics of 'Clinical and genetic characterization of pituitary gigantism: An international collaborative study in 208 patients'. Together they form a unique fingerprint.
What is pituitary gigantism?
The diagnosis of pituitary gigantism was defined as current or previous evidence of abnormal, progressive and excessively rapid growth velocity for age (>97th percentile, which corresponds to >+2 s.d. ), or a final height >+2 s.d. above the mean for relevant population, associated with elevated GH/insulin-like growth factor 1 (IGF1) and imaging evidence of a pituitary lesion. Details on height sources for the countries are listed in Supplementary Materials and methods, see section on supplementary data given at the end of this article.
Where was the study of pituitary gigantism performed?
The study was performed between 2011 and 2013 at the Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Belgium, in collaboration with 46 other international centers in Argentina, Australia, Belgium, Brazil, Bulgaria, Canada, Denmark, India, Italy, Finland, France, Germany, New Zealand, Romania, Russia, Spain, the Netherlands and the United States. This study was approved by the Ethics Committee of CHU de Liège (Belgian clinical trials number: B707201111968). Patients were identified at the participating centers and both historical and current follow-up data were collected; results of previous genetic tests were collected retrospectively, and other genetic analyses were also performed prospectively over the course of the study. Patients consented to the collection and use of clinical data and provided informed consent in their local language for genetic studies.
What causes abnormal height?
Disorders of the growth hormone (GH) axis can lead to abnormal height, the most classical of which is pituitary gigantism, usually due to over-secretion of GH by a pituitary adenoma occurring before epiphyseal closure ( Daughaday 1992, Eugster & Pescovitz 1999, Eugster 2000 ).
Is tumor size different in X-LAG?
Tumor size was not different in X-LAG, AIP mutated and genetically negative patient groups. AIP- mutated and X-LAG patients were significantly younger at onset and diagnosis, but disease control was worse in genetically negative cases.
Is pituitary gigantism a growth disorder?
Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large series of pituitary gigantism patients.
Do radiological characteristics differ between males and females?
Radiological characteristics did not differ between males and females. Despite the relatively young age of the patients, acromegalic features were present in almost all males (92%) and females (94%) at diagnosis ( Supplementary Table 1, see section on supplementary data given at the end of this article).
What causes a child to grow so much?
Other symptoms may include delayed puberty; double vision or difficulty with side (peripheral) vision; prominent forehead ( frontal bossing) and a prominent jaw; headache; increased sweating ( hyperhidrosis ); irregular periods; large hands and feet with thick fingers and toes; thickening of the facial features; and weakness. [1] It may begin at any age before epiphyseal fusion. [2] The most common cause is a non-cancerous (benign) tumor of the pituitary gland, which may cause it to make too much GH, but it can be caused by other underlying conditions (which may cause a pituitary tumor) including Carney complex ; McCune-Albright syndrome ; Multiple endocrine neoplasia type 1 (MEN-1) and type 4; and Neurofibromatosis. In some cases the disease is caused by mutations in the GPR101 gene. Treatment typically includes surgery to remove the tumor and can cure many cases. Medication or radiation therapy may be used to reduce GH release or block the effect of GH. [1]
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