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Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. This book is also an essential reference book for genetic counselors The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. The Genetic Mutation Fragile X Syndrome

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Fragile X Syndrome - Pathology, Signs \u0026 Symptoms, Diagnosis

Pituitary tumours are usually benign and relatively common intracranial tumours, with under- and overexpression of pituitary hormones and local mass effects causing considerable morbidity and increased mortality. Genetically determined pituitary tumours usually present at younger age and show aggressive behaviour, and are often resistant to different treatment modalities.

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In this practical summary, we take a practical approach: which genetic syndromes should be considered in case of different presentation, such as tumour type, family history, age of onset and additional clinical features of the patient. The identification of the causative mutation allows genetic and clinical screening of relatives at risk, resulting in earlier diagnosis, a better therapeutic response Frzgile ultimately to better long-term outcomes. Consideration of genetic abnormalities in a patient with a pituitary tumour has only recently entered the clinical thinking of the practising endocrinologist. While in families with multiple The Genetic Mutation Fragile X Syndrome neoplasia type Thee MEN1 syndrome it was long recognised that members can develop pituitary adenomas with incomplete penetrance, the flurry of conditions we can now list with a genetic cause of pituitary adenoma would have been The Genetic Mutation Fragile X Syndrome beyond imagination 20 years ago.

Genetic testing might lead to the recognition of a syndromic disease and therefore beneficial effects of timely identification of other aspects of the disease, or it can diagnose disease in family members at an early stage leading to earlier diagnosis and treatment, and ultimately to better outcomes.

Here we approach this issue from the practical point of view, centring the discussion on the source of the patient. The most common cause of a germline genetic abnormality in a patient with a pituitary adenoma is growth hormone GH excess, especially childhood-onset GH excess leading to gigantism.

Introduction

While the usual cause Syyndrome acromegalic gigantism is a GH-secreting pituitary adenoma, resulting in elevated GH- and insulin-like growth factor 1 IGF-1 levels, we should remember other conditions with tall stature, either as a normal variant or part of a syndrome with no abnormalities in the GH axis [ 1 ]. For true acromegalic gigantism we need to consider the age of onset of rapid growth. XLAG is an infant-onset gigantism syndrome caused by germline or somatic mosaic duplication of the GPR gene, which encodes a G-protein Geenetic receptor [ 23 ]. The onset of accelerated growth is always Syndrime before the age of 5 years, and in most patients during the first year of life.

Apart from rapid growth, these children have acromegalic features, such as acral enlargement The Genetic Mutation Fragile X Syndrome facial coarsening and other abnormalities, like increased appetite and hyperinsulinemia [ 4 ]. The tumours often have an unusual histological appearance sinusoidal, lobular and acinar architecture, microcalcification and pseudo-follicles are characteristicwhile hyperplasia can be seen on histology in some cases [ 3 ]. GPR variants, other than gene duplication, have not been associated with GH-secreting or other type of pituitary tumours [ 35678 ].

AIP-related gigantism is the most common genetic cause of pituitary gigantism [ 39 ]. Patients typically show signs of the The Genetic Mutation Fragile X Syndrome during the second decade but several cases have been described with accelerated growth already in the first decade. These patients usually have large invasive tumours needing multiple treatment modalities [ 1011 ], although microadenoma cured after surgery has also been described [ 12 ].

Pituitary apoplexy is a characteristic phenomenon in some AIP mutation-positive patients [ 111213 ]. Male predominance is observed in AIP mutation-positive gigantism, although the physiologically later puberty and ascertainment bias due to taller stature in males could play a part in this. MEN1 syndrome extremely rarely manifests as gigantism. A 5-year-old boy was Mutwtion with a mammosomatotroph macroadenoma causing gigantism [ 14 ], while another case of MEN1-related gigantism was due to a pancreatic GHRH-secreting tumour [ 15 ].

Current FRAXA Funded Fragile X Research

The variable phenotype depends on what tissues are affected by the mutation. The mean age at diagnosis of acromegaly is Diseases to be considered in cases of gigantism. Apart from age of The Genetic Mutation Fragile X Syndrome, the other major significant feature for GH excess patients is the family history. A positive Synddrome history is very suggestive of a genetic disease, but we should be aware of phenocopies—the same phenotype by chance and not due to common genetic background; this has been described in several AIP - and succinate dehydrogenase SDHx -positive families already [ 171819 ]. If there is no family history of pituitary tumours, this could be due to i a lack of genetic background, ii low penetrance, iii lack of information regarding a positive family history, iv a de novo germline or mosaic mutation and v imprinting complicating penetrance SDHD for example.

FIPA is defined as two or more members Fraagile a family who develop pituitary adenoma with no other clinical manifestation.

In FIPA families, either heterogeneous—with different pituitary tumour subtypes, or homogeneous—the most frequent pituitary adenoma subtypes are somatotrophinomas or prolactinomas. It is important to note that AIP mutations can also occur in subjects with apparently sporadic early-onset somatotrophinomas or prolactinomas, as a consequence of incomplete penetrance, while de novo mutations are extremely rare.

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AIP mutation-positive tumours show a distinct phenotype, with younger age at diagnosis usually age of onset under 30 yearstumour Syndgome and relative resistance to treatment with first-generation somatostatin receptor ligands. AIP mutation-positive patients usually need a multimodal therapeutic approach. MEN1 is an autosomal dominantly inherited disease characterised by hyperparathyroidism, gastro-enteropancreatic neuroendocrine NET and pituitary tumours, with associated other endocrine and non-endocrine tumours. Prolactinomas are the most common clinically presenting pituitary tumour subtype, sometimes large and arising at a younger age.

Patients with MEN1 may have plurihormonal adenomas.]