Gigantism
Growth Hormone-Secreting Pituitary Adenoma
Dinosaurs
Acromegaly
Bermuda
Pituitary Neoplasms
Reptiles
Adenoma, Acidophil
Arthropods
Growth in Sotos syndrome. (1/60)
Although there are several reports on infant and childhood growth in patients with Sotos syndrome, there is little information on the final height achieved and puberty. Growth data on 40 patients (20 female and 20 male) aged 2-31 years were collected. These showed that patients with Sotos syndrome are excessively tall at birth, during infancy, and during childhood. Disproportionately long limbs constitute much of the increase in stature. However, the combination of advanced bone age and early onset of menarche led to a mean (SD) final height of 172.9 (5.7) cm in women. This is within the normal range for the population. Most of the men also attained a final height (mean, 184.3 cm; SD, 6.0) within the normal range, although exceptions were more likely in men than in women. Therefore, these results show that most patients with Sotos syndrome do not require intervention to limit their adult height. (+info)Myocardial infarction with Moyamoya disease and pituitary gigantism in a young female patient. (2/60)
Myocardial infarction is very rare in young female patients with systemic vascular disorders. Moyamoya disease is a cerebrovascular disease associated with an abnormal vascular network. This report presents a 19-year-old female patient who suffered from chest pain and exertional dyspnea for 2 months prior to admission. She had a history of Moyamoya disease and pituitary gigantism since childhood. Her ejection fraction on echocardiogram was 20% and a perfusion defect with partial reversibility in the anterior wall was demonstrated on stress single photon emission computed tomography (SPECT). Diagnostic coronary angiogram revealed critical stenosis in the middle left anterior descending artery, which was treated by coronary stenting. Her subjective symptoms were relieved and the perfusion defect seen on SPECT decreased after coronary intervention. (+info)The expression of a truncated HMGI-C gene induces gigantism associated with lipomatosis. (3/60)
Rearrangements of the HMGI-C gene have frequently been detected in human benign tumors of mesenchymal origin, including lipomas. The HMGI-C protein has three AT-hook domains and an acidic COOH-terminal tail. The HMGI-C modifications consist in the loss of the C-tail and the fusion with ectopic sequences. Recent results show that the loss of the COOH-terminal region, rather than the acquisition of new sequences, is sufficient to confer to HMGI-C the ability to transform NIH3T3 cells. Therefore, transgenic mice carrying a HMGI-C construct (HMGI-C/T), containing only the three AT-hook domains, were generated. The HMGI-C/T mice showed a giant phenotype, together with a predominantly abdominal/pelvic lipomatosis, suggesting a pivotal role of the HMGI-C truncation in the generation of human lipomas. (+info)Evidence for growth hormone (GH) autoregulation in pituitary somatotrophs in GH antagonist-transgenic mice and GH receptor-deficient mice. (4/60)
Growth hormone (GH) modulates the hypothalamic release of somatostatin and GH-releasing hormone; however, there has been no evidence of GH autoregulation on the pituitary somatotroph. To determine the effects of GH on its own regulation, we examined the pituitaries of giant transgenic mice expressing a GH agonist (E117L), dwarf transgenic mice expressing a GH antagonist (G119K), and dwarf mice devoid of the GH receptor/binding protein (GHR/BP). In the E117L transgenic mice, the number and distribution of pituitary GH-immunoreactive cells were unchanged from nontransgenic littermate controls; an ultrastructural examination revealed typical, densely granulated somatotrophs. In contrast, the pituitaries of the G119K mice contained both moderately granulated somatotrophs and a sparsely granulated (SG) population with well-developed synthetic organelles and a distinct juxtanuclear globular GH-staining pattern. GHR/BP-deficient mice exhibited a marked reduction in the intensity of cytoplasmic GH immunoreactivity; however, prominent GH staining in the juxtanuclear Golgi was seen. GH-immunoreactive cells were increased in number, and the reticulin network pattern was distorted; stains for proliferating cell nuclear antigen confirmed mild hyperplasia. Electron microscopy showed that the somatotrophs were hyperactive SG cells with prominent endoplasmic reticulum membranes, large Golgi complexes, and numerous mitochondria. These findings are consistent with synthetic and secretory hyperactivity in pituitary somatotrophs due to the reduced GH feedback regulation. The changes are most striking in animals that are devoid of GHR/BP and less marked in animals expressing a GH antagonist; both models had reduced insulin-like growth factor-I levels, but the more dramatic change in the GHR/BP animals can be explained by abrogated GH signaling. This represents the first evidence of direct GH feedback inhibition on pituitary somatotrophs, which may have implications for the use of GH analogs in different clinical settings. (+info)Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. (5/60)
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked syndrome characterized by pre- and postnatal overgrowth (gigantism), which clinically resembles the autosomal Beckwith-Wiedemann syndrome (BWS). Deletions and translocations involving the glypican-3 gene ( GPC3 ) have been shown to be associated with SGBS. Occasionally, these deletions also include the glypican-4 gene ( GPC4 ). Glypicans are heparan sulfate proteoglycans which have a role in the control of cell growth and cell division. We have examined the mutational status of the GPC3 and GPC4 genes in one patient with Perlman syndrome, three patients with overgrowth without syndrome diagnosis, ten unrelated SGBS-patients and 11 BWS patients. We identified one SGBS patient with a deletion of a GPC3 exon. Six SGBS patients showed point mutations in GPC3. One frameshift, three nonsense, and one splice mutation predict a loss-of-function of the glypican-3 protein. One missense mutation, W296R, changes an amino acid that is conserved in all glypicans identified so far. A GPC3 protein that reproduces this mutation is poorly processed and fails to increase the cell surface expression of heparan sulfate, suggesting that this missense mutation is also a loss-of-function mutation. In three SGBS patients and in all non-SGBS patients, no mutations could be identified. We found three single nucleotide polymorphisms in the GPC4 gene but no evidence for loss-of-function mutations in GPC4 associated with SGBS. (+info)Sotos syndrome (cerebral gigantism): analysis of 8 cases. (6/60)
Sotos syndrome or cerebral gigantism is characterized by macrocephaly, overgrowth, mental retardation and central nervous system abnormalities. Congenital heart defects may be present. We report 8 patients with this syndrome and relate their clinical features, neuroimaging and echocardiographic findings. (+info)Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature. (7/60)
The human DMD gene is the largest known to date, spanning > 2000 kb on the X chromosome. The gene size is mainly accounted for by huge intronic regions. We sequenced 190 kb of Fugu rubripes (pufferfish) genomic DNA corresponding to the complete dystrophin gene (FrDMD) and provide the first report of gene structure and sequence comparison among dystrophin genomic sequences from different vertebrate organisms. Almost all intron positions and phases are conserved between FrDMD and its mammalian counterparts, and the predicted protein product of the Fugu gene displays 55% identity and 71% similarity to human dystrophin. In analogy to the human gene, FrDMD presents several-fold longer than average intronic regions. Analysis of intron sequences of the human and murine genes revealed that they are extremely conserved in size and that a similar fraction of total intron length is represented by repetitive elements; moreover, our data indicate that intron expansion through repeat accumulation in the two orthologs is the result of independent insertional events. The hypothesis that intron length might be functionally relevant to the DMD gene regulation is proposed and substantiated by the finding that dystrophin intron gigantism is common to the three vertebrate genes. (+info)Cerebral gigantism with West syndrome. (8/60)
A case of cerebral gigantism (Sotos syndrome) with West syndrome in a one-year-old male child is reported. The case had a large stature, typical facies and neurodevelopmental delay along with infantile spasms, which were refractory to treatment with valproate and clonazepam. (+info)Gigantism is a rare medical condition characterized by excessive growth and height significantly above average. This occurs due to an overproduction of growth hormone (GH), also known as somatotropin, during the growth phase in childhood. The pituitary gland, a small gland located at the base of the brain, is responsible for producing this hormone.
In gigantism, the pituitary gland releases too much GH, leading to abnormal bone and tissue growth. This condition is different from acromegaly, which is characterized by excessive GH production in adulthood after the growth phase has ended. In both cases, the excess GH can lead to various health complications, including cardiovascular disease, diabetes, hypertension, and joint problems.
Gigantism is typically caused by a benign tumor called a pituitary adenoma that presses against and stimulates the production of GH from the anterior pituitary gland. Treatment usually involves surgical removal of the tumor or medication to control GH levels, depending on the severity and progression of the condition. Early diagnosis and treatment are crucial for managing the symptoms and preventing long-term health complications associated with gigantism.
"Body size" is a general term that refers to the overall physical dimensions and proportions of an individual's body. It can encompass various measurements, including height, weight, waist circumference, hip circumference, blood pressure, and other anthropometric measures.
In medical and public health contexts, body size is often used to assess health status, risk factors for chronic diseases, and overall well-being. For example, a high body mass index (BMI) may indicate excess body fat and increase the risk of conditions such as diabetes, hypertension, and cardiovascular disease. Similarly, a large waist circumference or high blood pressure may also be indicators of increased health risks.
It's important to note that body size is just one aspect of health and should not be used as the sole indicator of an individual's overall well-being. A holistic approach to health that considers multiple factors, including diet, physical activity, mental health, and social determinants of health, is essential for promoting optimal health outcomes.
A Growth Hormone-Secreting Pituitary Adenoma (GH-secreting pituitary adenoma, or GHoma) is a type of benign tumor that develops in the pituitary gland and results in excessive production of growth hormone (GH). This leads to a condition known as acromegaly if it occurs in adults, or gigantism if it occurs in children before the closure of the growth plates.
Symptoms of GH-secreting pituitary adenoma may include:
1. Coarsening of facial features
2. Enlargement of hands and feet
3. Deepened voice due to thickening of vocal cords
4. Increased sweating and body odor
5. Joint pain and stiffness
6. Sleep apnea
7. Fatigue, weakness, or muscle wasting
8. Headaches
9. Vision problems
10. Irregular menstrual periods in women
11. Erectile dysfunction in men
Diagnosis typically involves measuring the levels of GH and insulin-like growth factor 1 (IGF-1) in the blood, along with imaging tests like MRI or CT scans to locate and characterize the tumor. Treatment options include surgical removal of the tumor, radiation therapy, and medication to control GH production. Regular follow-ups are necessary to monitor for potential recurrence.
Dinosaurs are a group of reptiles that were the dominant terrestrial vertebrates for over 160 million years, from the late Triassic period until the end of the Cretaceous period. They first appeared approximately 230 million years ago and went extinct around 65 million years ago.
Dinosaurs are characterized by their upright stance, with legs positioned directly under their bodies, and a wide range of body sizes and shapes. Some dinosaurs were enormous, such as the long-necked sauropods that could reach lengths of over 100 feet, while others were small and agile.
Dinosaurs are classified into two main groups: the saurischians (lizard-hipped) and the ornithischians (bird-hipped). The saurischians include both the large carnivorous theropods, such as Tyrannosaurus rex, and the long-necked sauropods. The ornithischians were primarily herbivores and included a diverse array of species, such as the armored ankylosaurs and the horned ceratopsians.
Despite their extinction, dinosaurs have left a lasting impact on our planet and continue to be a source of fascination for people of all ages. The study of dinosaurs, known as paleontology, has shed light on many aspects of Earth's history and the evolution of life on our planet.
Acromegaly is a rare hormonal disorder that typically occurs in middle-aged adults. It results from the pituitary gland producing too much growth hormone (GH) during adulthood. The excessive production of GH leads to abnormal growth of body tissues, particularly in the hands, feet, and face.
The term "acromegaly" is derived from two Greek words: "akros," meaning extremities, and "megaly," meaning enlargement. In most cases, acromegaly is caused by a benign tumor (adenoma) of the pituitary gland, which results in overproduction of GH.
Common symptoms include enlarged hands and feet, coarse facial features, deepened voice, joint pain, and sweating. If left untreated, acromegaly can lead to serious complications such as diabetes, hypertension, heart disease, and arthritis. Treatment usually involves surgical removal of the tumor, radiation therapy, or medication to control GH production.
I'm not aware of any medical definition for the term "Bermuda." The term "Bermuda" is typically used to refer to a group of islands located in the North Atlantic Ocean, or it can be used more generally to refer to something related to those islands. It is not a term that is commonly used in a medical context. If you have encountered this term in a medical context and are seeking clarification, I would recommend checking the source again or consulting with a healthcare professional for further information.
Pituitary neoplasms refer to abnormal growths or tumors in the pituitary gland, a small endocrine gland located at the base of the brain. These neoplasms can be benign (non-cancerous) or malignant (cancerous), with most being benign. They can vary in size and may cause various symptoms depending on their location, size, and hormonal activity.
Pituitary neoplasms can produce and secrete excess hormones, leading to a variety of endocrine disorders such as Cushing's disease (caused by excessive ACTH production), acromegaly (caused by excessive GH production), or prolactinoma (caused by excessive PRL production). They can also cause local compression symptoms due to their size, leading to headaches, vision problems, and cranial nerve palsies.
The exact causes of pituitary neoplasms are not fully understood, but genetic factors, radiation exposure, and certain inherited conditions may increase the risk of developing these tumors. Treatment options for pituitary neoplasms include surgical removal, radiation therapy, and medical management with drugs that can help control hormonal imbalances.
I'm sorry for any confusion, but "Reptiles" is not a medical term. It is a term used in biology to describe a class of cold-blooded, scaly-skinned animals that include snakes, lizards, alligators, crocodiles, turtles, and tortoises. They are characterized by having lungs for breathing, laying eggs on land, and having a three-chambered heart. If you have any medical questions or terms, I'd be happy to help clarify those!
An adenoma is a benign tumor that forms in glandular tissue. When referring to "acidophil," it describes the appearance of the cells under a microscope. Acidophils are cells that take up acidic dyes, giving them a distinct appearance. In the context of an adenoma, an acidophil adenoma would be a benign tumor composed of acidophil cells.
Acidophil adenomas are most commonly found in the pituitary gland and are also known as lactotroph or mammosomatotroph adenomas. These tumors can produce and release prolactin, growth hormone, or both, leading to various endocrine disorders such as hyperprolactinemia, acromegaly, or gigantism. Treatment options typically include surgical removal of the tumor or medical management with dopamine agonists or somatostatin analogs.
Arthropods are a phylum of animals characterized by the presence of a segmented body, a pair of jointed appendages on each segment, and a tough exoskeleton made of chitin. This phylum includes insects, arachnids (spiders, scorpions, mites), crustaceans (crabs, lobsters, shrimp), and myriapods (centipedes, millipedes). They are the largest group of animals on Earth, making up more than 80% of all described species. Arthropods can be found in nearly every habitat, from the deep sea to mountaintops, and play important roles in ecosystems as decomposers, pollinators, and predators.