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Doctor insights on: Genetic Diagnosis Of Endocrine Disorders

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How are diagnoses of lysosome storage disorders differentiated from congenital disorders of glycosylation? References?

How are diagnoses of lysosome storage disorders differentiated from congenital disorders of glycosylation? References?

Difficult to differe: Lysosome storage disease, congenital disorders of glycosylation (cdg), peroxisomal disorders, smith-lemli-opitz are "single-gene disorders, most of which demonstrate autosomal-recessive inheritance. These 4 categories of metabolic diseases involve molecules important in cell membranes and share overlapping clinical presentations". (avery's diseases of the newborn, by w. Taeusch, 2005, p. 258). ...Read more

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Are thyroid disorders genetic?

Are thyroid disorders genetic?

Most are: Hashimoto's and graves disease are classic hypothyroidism and hyperthyroidism respectfully and are autoimmune in nature. You inherit and hla antigen which predisposes you to their development from your parents. You may never develop disorder. Of course if you remove your thyroid, you would have a low thyroid condition, in addition there are multiple drugs that can contribute to thyroid dysfunction. ...Read more

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What types of inherited metabolic disorders?

What types of inherited metabolic disorders?

Many types: Metabolic syndrome is insidious. Many features of disease are initially asymptomatic. High blood pressure in early stages is not perceived. Cholesterol issues are asymptomatic unless present for some time. Women may have symptoms of irregular menses, or increased facial hair, but may think this not too abnormal. If you have increasing weight, most on the gut, get checked out by your pcp. ...Read more

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Ideas of metabolic disorders testing?

Ideas of metabolic disorders testing?

Metabolic syndromeDx: Lipid panel, fasting glucose, hemoglobin a1c, and a fasting glucose to Insulin ratio. Finally, an exam to determine if you have an apple build and a family history.These last two are the most important to point to metabolic syndrome! ...Read more

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How are genetic disorders diagnosed?

How are genetic disorders diagnosed?

Clinical skill: Physicians with expertise in a specialty will have knowledge of genetic disorders common to their specialty. A hematologist will recognize hemoglobinopathies, a plastic surgeon recognizes genetic disorders which require facial repair, a neurologist may diagnose neurological degenerative disorders. A clinical geneticist is the general practitioner of genetics--and can help diagnose unknowns. ...Read more

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What sort of disorder is an endocrine disorder?

What sort of disorder is an endocrine disorder?

Hormones: The endocrine system is composed of a variety of glands and organs each of which secretes hormones that act locally or in other places throughout the body to have certain effects. Body parts with endocrine functions range from the pituitary gland in the brain to the thyroid gland in the neck to the adrenal glands in the abdomen. Endocrine disorders can range from pubertal problems to growth problems to disorders of calcium homeostasis to types of diabetes. ...Read more

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Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

Yes: An embryo could be tested for the marfan mutation and only implanted if it did not contain that mutation. The same is true for a large number of other autosomal dominant or recessive diseases. ...Read more

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Does mitochondrial dysfunction cause some sort of autism spectrum disorder?

Does mitochondrial dysfunction cause some sort of autism spectrum disorder?

Maternally derived: Mutations in mitochondrial dna cause defective energy production impacting cell function in the 65 known mitochondrial disorders.Muscle weakness occurs in all;blindness, & deafness in some. A progressive neurological disorder with developmental regression with or without autistic behaviors occurs in some types. Some organs may be affected & not others. Mother may be unaffected or mildly affected. ...Read more

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Dr. Alan Ali Dr. Ali
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Are there genetic causes of eating disorders?

Dr. Alan Ali Dr. Ali
2 doctors agreed:
Are there genetic causes of eating disorders?

Eating DO: The specific causes are unknown. It is however believed to be combination of biological (such as genetic predisposition) , psychological (such as self-image distortions), &/or environmental factors (such as social isolation, early maltreatment, cultural, peer pressure) . As i tell my patients, "genetics loads the gun, environment pulls the trigger". ...Read more

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Are mental disorders genetic?

Are mental disorders genetic?

Genetic Influence: There is evidence for genetic predisposition in mood disorders like depression & bipolar disorder; anxiety disorders; and schizophrenia. There may be some in alcoholism also. Having 1st degree relatives with a condition does not mean you will develop it though, because genes are not the only important influence. Environment, nutrition, and lifestyle play a huge part in how things show up. ...Read more

Dr. Jennie Law Dr. Law
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What sort of disorder is an endocrine tumor?

Dr. Jennie Law Dr. Law
10 doctors agreed:
What sort of disorder is an endocrine tumor?

Tumors in hormone: -producing organs, such as the pituitary, thyroid, pancreas, parathyroid, adrenal glands. ...Read more

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Dr. Alan Ali Dr. Ali
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Which type of genetic disorder is bipolar disorder?

Dr. Alan Ali Dr. Ali
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Which type of genetic disorder is bipolar disorder?

Genetics of Bipolar: Although results inconsistent, many earlier studies suggest chromosomal aberrations (specifically chromosome 6q & 8q21). Most studies suggested heterogeneity (several genes involved, specifically those for serotonin, Dopamine & glutamate. Also, there is strong correlation with advanced paternal age, suggesting genetic mutations. ...Read more

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What type of genetic disorder is klinefelter syndrome classified as?

What type of genetic disorder is klinefelter syndrome classified as?

Chromosomal disorder: Klinefelter syndrome is also known as XXY condition. Men with this condtion have an extra x chromosome in most of their cells. Not all men with the condition have all of the symptoms described by klinefelter and many are not even aware that they have the condition. 1 in 500 men are xxy. During puberty, most males with the condition are taller with less muscular bodies and less facial hair. ...Read more

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Is alcoholism a genetic disorder?

Is alcoholism a genetic disorder?

Very often yes: Alcoholism does have a very strong genetic component, there is much research to indicate that many alcoholics brains are different than non, even before their first drink, however the degree of genetic influence would very between persons. The environment or life circumstances however are also part of the disease's expression. It is usually a combo of nature and nurture. ...Read more

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Is homocystinuria a genetic or chromosomal disorder?

Is homocystinuria a genetic or chromosomal disorder?

See below: Homocystinuria is a genetic disorder which affects the metabolism of the aminoacid methionine. It is inherited as a autosomal recessive trait trait, ie the child must inherit the non working gene from both the parents to be affected. It presents as failure to thrive, mental retardation, visual problems and bone problems. ...Read more

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Is overlap myelodysplasticity myeloproliferative disorder a name for one disorder with common features of two disorders or the one blood disorder ?

Is overlap myelodysplasticity myeloproliferative disorder a name for one disorder with common features of two disorders or the one blood disorder ?

Spectrum of disease : Myelodyaplastic syndrome is a type of myeloproliferative disorder. So it's one disease but there is a spectrum. Myelodyaplasia means abnormal looking blood cells seen in your blood or in the bone marrow. This is usually due to an underlying bone marrow issue like infection or a possible bone marrow cancer and a bone marrow biopsy could be warranted at this point. Talk to your doctor . Take care. ...Read more

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What type of exam can diagnose Paraneoplastic Neurological Syndromes?

What type of exam can diagnose Paraneoplastic Neurological Syndromes?

Depends on type: There r many paraneoplastic neurologic syndromes, each associated with specific types of cancers. Thus, there's no generic answer to ur question. Paraneoplastic lymphomas, 4 instance, can produce specific antibodies which can b detected by blood tests or lumbar puncture, depending. The best "test"? A thorough history & physical by some1 knowledgeable (oncologist, neurologist) who can guide u more ...Read more

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What type of genetic disorders are tay sachs disease and canavans examples of?

Genetic diseases: Tay sachs is an autosomal recessive genetic disease. It is a disease of the nervous system and is a member of the sphingolipidoses. Canavan disease is different autosomal recessive genetic disease of the nervous system and is a member of the leukodystrophies. Eastern european (ashkenazi) jews have a higher carrier rate for both of these diseases than the average population.Seek genetic counsiling. ...Read more

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What chromosomes cause the genetic disorder achondroplasia?

FGFR3 gene: Achondroplasia is a mutation in the fibroblast growth factor receptor 3, which is an inhibitor that regulates bone growth. In cases of achondroplasia, the fgfr3 gene is too aggressive, negatively impacting bone growth. ...Read more

Dr. Tyrone Malloy
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Endocrine System (Definition)

The endocrine system is a group of organs composed of glands that secrete hormones. These hormones have important regulatory functions such as growth, metabolism, ...Read more


Dr. Quang Nguyen
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Endocrine Disorders (Definition)

A Problem with the endocrine (hormonal) system. Endocrine glands secrete hormones, the system is highly regulated. so less secretion or more secretion than normal ...Read more