-
Journal of Medical Genetics Mar 1988
Topics: Bone Diseases, Developmental; Cranial Nerve Diseases; Diagnosis, Differential; Female; Genes, Recessive; Gigantism; Humans; Intracranial Pressure; Male; Nerve Compression Syndromes; Osteopetrosis; Osteosclerosis; Syndrome
PubMed: 3351908
DOI: 10.1136/jmg.25.3.200 -
Best Practice & Research. Clinical... May 2024It is usually considered that only 5% of all pituitary neuroendocrine tumours are due to inheritable causes. Since this estimate was reported, however, multiple genetic... (Review)
Review
It is usually considered that only 5% of all pituitary neuroendocrine tumours are due to inheritable causes. Since this estimate was reported, however, multiple genetic defects driving syndromic and nonsyndromic somatotrophinomas have been unveiled. This heterogeneous genetic background results in overlapping phenotypes of GH excess. Genetic tests should be part of the approach to patients with acromegaly and gigantism because they can refine the clinical diagnoses, opening the possibility to tailor the clinical conduct to each patient. Even more, genetic testing and clinical screening of at-risk individuals have a positive impact on disease outcomes, by allowing for the timely detection and treatment of somatotrophinomas at early stages. Future research should focus on determining the actual frequency of novel genetic drivers of somatotrophinomas in the general population, developing up-to-date disease-specific multi-gene panels for clinical use, and finding strategies to improve access to modern genetic testing worldwide.
Topics: Humans; Acromegaly; Gigantism; Genetic Testing; Pituitary Neoplasms; Growth Hormone-Secreting Pituitary Adenoma
PubMed: 38521632
DOI: 10.1016/j.beem.2024.101892 -
PloS One 2013Sauropod dinosaurs are a group of herbivorous dinosaurs which exceeded all other terrestrial vertebrates in mean and maximal body size. Sauropod dinosaurs were also the... (Review)
Review
Sauropod dinosaurs are a group of herbivorous dinosaurs which exceeded all other terrestrial vertebrates in mean and maximal body size. Sauropod dinosaurs were also the most successful and long-lived herbivorous tetrapod clade, but no abiological factors such as global environmental parameters conducive to their gigantism can be identified. These facts justify major efforts by evolutionary biologists and paleontologists to understand sauropods as living animals and to explain their evolutionary success and uniquely gigantic body size. Contributions to this research program have come from many fields and can be synthesized into a biological evolutionary cascade model of sauropod dinosaur gigantism (sauropod gigantism ECM). This review focuses on the sauropod gigantism ECM, providing an updated version based on the contributions to the PLoS ONE sauropod gigantism collection and on other very recent published evidence. The model consist of five separate evolutionary cascades ("Reproduction", "Feeding", "Head and neck", "Avian-style lung", and "Metabolism"). Each cascade starts with observed or inferred basal traits that either may be plesiomorphic or derived at the level of Sauropoda. Each trait confers hypothetical selective advantages which permit the evolution of the next trait. Feedback loops in the ECM consist of selective advantages originating from traits higher in the cascades but affecting lower traits. All cascades end in the trait "Very high body mass". Each cascade is linked to at least one other cascade. Important plesiomorphic traits of sauropod dinosaurs that entered the model were ovipary as well as no mastication of food. Important evolutionary innovations (derived traits) were an avian-style respiratory system and an elevated basal metabolic rate. Comparison with other tetrapod lineages identifies factors limiting body size.
Topics: Animals; Body Size; Dinosaurs; Evolution, Molecular; Extinction, Biological; Humans; Models, Biological
PubMed: 24205267
DOI: 10.1371/journal.pone.0078573 -
Indian Pediatrics Mar 2015
Topics: Child, Preschool; Female; Fingers; Gigantism; Humans; Radiography
PubMed: 25849020
DOI: 10.1007/s13312-015-0623-0 -
BMJ Case Reports Dec 2021Pituitary gigantism is extremely rare, resulting from excessive secretion of growth hormone (GH) before fusion of epiphysial growth plates. We report a case of a...
Pituitary gigantism is extremely rare, resulting from excessive secretion of growth hormone (GH) before fusion of epiphysial growth plates. We report a case of a 13-year-old boy, who presented with increased statural growth and headaches since the age of 10 years. On physical examination, his height was 180.7 cm (+3.3 SD) and Tanner stage V. Investigation revealed increased levels of serum age-adjusted and sex-adjusted insulin-like growth factor 1 (IGF-1) and failure of GH suppression during an oral glucose tolerance test (OGTT). MRI of the sellar region revealed a pituitary macroadenoma. He underwent transsphenoidal surgery and histopathological evaluation revealed mammosomatotropic adenoma. Three months after surgery, IGF-1 normalised, nadir GH during OGTT was less than 1 ng/mL and no residual tumour was found on the MRI. Genetic testing identified a mutation in the gene. This case emphasises the importance of early diagnosis of gigantism, as treatment delay increases long-term morbidity.
Topics: Acromegaly; Adenoma; Adolescent; Child; Gigantism; Growth Hormone; Human Growth Hormone; Humans; Insulin-Like Growth Factor I; Male; Pituitary Neoplasms
PubMed: 34972788
DOI: 10.1136/bcr-2021-247989 -
Journal of Postgraduate Medicine 1993A race case of Proteus syndrome is presented. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous... (Review)
Review
A race case of Proteus syndrome is presented. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous masses, epidermal nevi and bony abnormalities. The condition is extremely rare. Though the child had severe cosmetic disability, motor intellectual and language development was found to be normal.
Topics: Aftercare; Humans; Infant; Male; Proteus Syndrome
PubMed: 7996501
DOI: No ID Found -
Pituitary Sep 2012The skeletons of 2 famous acromegalic giants: Charles Byrne (1761-1783) and Henri Cot = Joseph Dusorc (1883-1912) and the embalmed body of the famous acromegalic giant... (Review)
Review
The skeletons of 2 famous acromegalic giants: Charles Byrne (1761-1783) and Henri Cot = Joseph Dusorc (1883-1912) and the embalmed body of the famous acromegalic giant Édouard Beaupré (1881-1904) all ended up in the medical collections of museums despite the fact that these patients had never donated or even refused to donate their corpses, nor had their relatives given permission. The corpse of the acromegalic giant John Aasen (1890-1938) was voluntarily donated to a physician annex collector of trivia from acromegalic giants. The autopsy on the acromegalic giant John Turner (1874-1911) was performed during his funeral ceremony without the relatives being informed. Only recently, the acromegalic giant Alexander Sizonenko (1959-2012) was made a financial offer during his life in exchange for his body after his death. The case-histories of these 6 patients and also the circumstances that led to the (in-) voluntary donation of their bodies are reviewed.
Topics: Acromegaly; Ethics, Medical; Famous Persons; Gigantism; History, 18th Century; History, 19th Century; History, 20th Century; Humans; Male; Physicians
PubMed: 22481633
DOI: 10.1007/s11102-012-0389-5 -
Orphanet Journal of Rare Diseases Sep 2014Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive... (Review)
Review
Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, heart, central nervous system, kidney, and gastrointestinal tract may also be observed. Intellectual disability, early motor milestones and speech delay are sometimes present; however, there are a considerable number of individuals with normal intelligence.
Topics: Abnormalities, Multiple; Arrhythmias, Cardiac; Genetic Diseases, X-Linked; Gigantism; Heart Defects, Congenital; Humans; Intellectual Disability; Mutation
PubMed: 25238977
DOI: 10.1186/s13023-014-0138-0 -
The New England Journal of Medicine Mar 2015
Topics: Acromegaly; Chromosome Duplication; Chromosomes, Human, X; Female; Gigantism; Humans; Male; Mutation; Receptors, G-Protein-Coupled
PubMed: 25806919
DOI: 10.1056/NEJMc1500340 -
The New England Journal of Medicine Mar 2015
Topics: Acromegaly; Chromosome Duplication; Chromosomes, Human, X; Female; Gigantism; Humans; Male; Mutation; Receptors, G-Protein-Coupled
PubMed: 25806921
DOI: 10.1056/NEJMc1500340