@misc{Bogusławska_Anna_The_2024,
 author={Bogusławska, Anna},
 address={Kraków},
 howpublished={online},
 year={2024},
 school={Rada Dyscypliny Nauki medyczne},
 language={pol; eng},
 abstract={Introduction Acromegaly is a chronic, rare disorder primarily caused by growth hormone (GH)-producing pituitary neuroendocrine tumors (PitNETs). It can lead to typical manifestations like changes in external appearance, as well as serious systemie complications. These include cardiovascular comorbidities and an elevated risk of malignancy. Acromegaly is mainly observed in adult patients with a completed growth process and the prevalence varies from 5.3 to 6.9 per 100.000 inhabitants. If GH excess occurs in childhood or adolescence, when the epiphyseal plates are still open, abnormally tall stature is observed. Pituitary gigantism is much less common, with only a few hundred cases reported worldwide. Acromegaly presents a broad spectrum of symptoms, ranging from a mild phenotype in older patients to an aggressive course of the disease, especially in young people. Additionally, gender dimorphism is observed in acromegaly and gigantism patients. In most cases, acromegaly develops sporadically, however m approximately 3% of cases the identifiable genetic background has been reported. This includes AIP mutations, X-LAG syndrome, McCune-Albright syndrome, Camey complex, and MEN1/MEN4 mutations. Aims of the study 1. Retrospective analysis of auxological, biochemical, and radiological data obtained from the medical histories oJ patients with acromegaly. 2. Evaluation of the growth proc},
 abstract={ess in patients with acromegaly during adulthood and adolescence in relation to population mean and mid-parental height. 3. Review of the clinical symptoms and genetic alterations predisposing to acromegaly and gigantism. 4. Developing an algorithm for an early diagnosis of tall stature and growth hormone excess. Results summary and conclusions A large spectrum of clinical features in the course oJ acromegaly is observed. The first article focuses on demographic and auxological factors influencing a wide spectrum of symptoms of growth hormone excess. In małe patients, hypogonadism and higher levels of IGF-1 were more frequently observed than in females. Hyperprolactinemia, hypogonadism, and larger pituitary tumor sizes were more common in younger patients. The diagnosis of acromegaly is still challenging but was aided by taking into account the aggressive course of the disease in young patients as well as the milder phenotype in older people with significant comorbidities . The second article presents the analysis of growth data of patients with GH excess. Based on our study, over one fifth of adult patients with acromegaly had a higher finał height in relation to MPH and gender- and country-specific data (13% presented with gigantism, while 10% had tall stature ). The frequency of gigantism and tall stature in patients with GH excess was similar in both sexes. Midparental heig},
 abstract={ht was an important parameter in the diagnosis of excess height in acromegaly. Additionally, patients with acromegaly carne from normal stature families. We concluded that careful examination oJ growth process data and height of parents may help to diagnose acromegaly at an early stage. In the age of precision medicine, having detailed clinicopathological information becomes crucial. Personalized medicine with the use of genetic analysis allows for the customization of the appropriate treatment modality for each patient, ensuring a mare targeted approach as well as identifying affected family mem bers before the clinical manifestation of the disease. 1. Auxological, biochemical, and radiological data were collected in patients with acromegaly. 2. The evaluation of the growth process in adolescence and adulthood was performed in relation to MPH and the population mean. 3. The proposed diagnostic algorithms with the use of the midparental height parameter may be of significant help in everyday clinical practice to diagnose gigantism. 4. In the third article, the genetic background of acromegaly was summarized. We conclude that in-depth family history, searching for associated syndromie manifestations and the age at diagnosis can help to draw attention to the specific genetic causes of GH excess. 5. Personalized medicine, which includes individual diagnostic and therapeutic approa},
 abstract={ches, is the vital element connecting all of our described analyses.},
 title={The auxological and genetic analysis in patients with acromegaly : the call for the algorithm of an early diagnosis of tall stature and growth hormone excess},
 type={Praca doktorska},
 keywords={acromegaly, gigantism, tall stature, somatotroph pituitary neuroendocrine tumor},
}