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Aurora magazine

The blog about the prenatal genetic of latest generation

Hypothyroidism: symptoms and causes

People with hypothyroidism have a thyroid hormone deficiency, symptom of a malfunctioning thyroid or a resistance of the tissues to the hormones in question. In the first case we speak of primary hypothyroidism (95% of cases), in the second of central hypothyroidism (5% of cases). The disease causes the slowing of metabolic processes, which results in tiredness, increased sensitivity to cold, difficulty concentrating. In children can also cause deficits in both physical and intellectual growth.

To make a diagnosis of hypothyroidism is to measure the thyroid hormones triiodothyronine and thyroxine in the blood: their deficits indicates difficulties in the functioning of the gland. Another symptom is an excess of thyroid-stimulating hormone (TSH) in the blood: TSH controls the secretion of hormones by the thyroid. When the thyroid is struggling to react to stimuli, the anterior pituitary releases more TSH in an attempt to "wake up" the thyroid.
There are three main types of hypothyroidism, depending on when it occurs and how it manifests: congenital, acquired and subclinical. As per the name, congenital hypothyroidism comes from childhood and is associated with altered thyroid if not its complete absence. Locate the disorder is often difficult, if not when the disease has already progressed and has become blatant. Children with congenital hypothyroidism in fact, tend to suffer from mental retardation, due to the abnormal development of the central nervous system. This and other problems, however, occur only when the child begins to grow. For this reason, many suggest to run on all neonates the dosage of TSH, FT3 and FT4, so as to intervene immediately with the right treatments.

The acquired hypothyroidism occurs in adulthood, often accompanied by a goiter. Due to the slowing of the metabolic functions of the cells, the body produces less energy and then tries to consume even less. Consequently slows down the mobile phone exchange, the body develops less heat and oxygenation of the tissues is more difficult. Resulting sensitivity to cold, dry skin, dry hair. Those suffering from hypothyroidism acquired also makes it hard to concentrate and depression problems, often accompanied by fatigue and drowsiness.

We talk about subclinical hypothyroidism when the thyroid damage are not apparent in clinical terms, while being continuous and progressive. Often the disorder is manifested after the age of 50, while being present for many years. According to many doctors, early intervention at a young age could prevent age-related problems, including changes in mental function.

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The love and sex hormone revelead

Researchers at Imperial College London have discovered the hormone that triggers sexual desire. They called kisspeptin and could help many men suffering from psychological sexual problems. The loss of desire is in fact a common problem among people with fertility problems, who perhaps are undergoing the IVF treatments. Kisspeptin may offer an alternative to more invasive drugs, restoring serenity to many couples and also facilitating conception.

The study involved 29 young heterosexual men in health. Half of these have received an injection of kisspeptin and half a placebo. After injection, the researchers showed them the various images, including some relating to the intimate and sexual. Meanwhile they observed the reactions at the physical level using brain scan. In men who received kisspeptin, the brain areas related to the romantic and sexual life were much more active than average.

The hormone may play a role in brain processes that involve reproduction. If confirmed, then, the discovery would have implications both on the study of human reproductive processes, both on the treatment of disorders of sexual and reproductive sphere. In fact, although most studies on human fertility are limited to biological aspects, researchers at Imperial College suggest that the emotional process could benefit an important role. emotional process but still only partially understand.

Source: telegraph.co.uk

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Pregnancy: how hypothyroidism is treated

Researchers at the Mayo Clinic published a study on the relationship between hypothyroidism and pregnancy. Pregnancy because it produces important changes in hormone levels. Among them is the TSH, the hormone that is responsible for the stimulation of the thyroid and whose levels often decrease during pregnancy. Where, however, the hormone exceed 2.5 mIU / L, it has to do with the so-called subclinical hypothyroidism. According to the study, if untreated subclinical hypothyroidism increase the risk of miscarriage. The data shows that timely action would have a positive impact of about 15 pregnancies per 100.

The Dr. Maraka team analyzed 18 previous studies on subclinical hypothyroidism cases. The studies involved more than 5,400 pregnant women living with the disease. Of these, 843 had very high levels of TSH and had been treated with thyroid hormones. The other still had higher hormone levels than average, but who did not require specific treatment. By comparing the data of the two groups, the women subjected to the treatment had had 38% of miscarriages in less, albeit with pregnancies often finished before the deadline, and cases of gestational diabetes. This means that TSH levels slightly higher than average untreated are more dangerous to very high levels treated.

The researchers looked for possible side effects due to hormonal treatment. The intake of levothyroxine during pregnancy would result in an increased risk of preeclampsia and gestational diabetes. To get a clearer picture of the situation, however, further studies will be needed. For now, doctors recommend to treat subclinical hypothyroidism starting from 2.5 mIU / L of TSH in the blood. During pregnancy the mother can preserve the health of babies via prenatal screening tests.

Source: mayoclinic.org

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14 new developmental disorders in children identified

One of the Wellcome Trust Sanger Institute study identified 14 new developmental disorders with a genetic basis. This is the largest genetic study of children of all time, with more than 4,000 families involved. Research has made a response to more than 1,000 children suffering from rare genetic diseases, who were still without a diagnosis. Answers that will enable families affected by similar genetic conditions to contact, so as to give support to each other and also improve the clinical process. Thanks to the new diagnosis, children can also hope for more effective future treatments and specific.

The data show that each year are born worldwide over 400,000 children with developmental disorders. They are genetic conditions that cause intellectual disability, epilepsy, autism, heart problems. Doctors have already identified more than 1,000 genetic causes, but many of these disorders are so rare as to render impossible a diagnosis. The "Deciphering Developmental Disorders" project (deciphering of developmental disorders) aims precisely to fill these gaps. The researchers involved exploiting new genomic technologies to provide DNA testing to identify the genetic causes of the diseases in question, so as to provide a diagnosis to the sufferer.

The team consists of over 200 geneticists from the National Health Service, which analyzed the genetic makeup of more than 4,000 families with at least one child with developmental disorders. The team focused on new spontaneous mutation that emerge when the DNA is transmitted from parents to children. Researchers have identified new genetic mutations linked to already identified disorders and have created groups including those with similar disorders. In addition to this, they identified 14 new developmental disorders, all caused by spontaneous mutations not present in either parent.

he study shows that 42% of the children involved had a new genetic mutation on genes important for development. The study also shows that children of older parents have a higher rate of risk of being born with developmental disabilities. To monitor the health of their baby, the mother can undergo non-invasive prenatal screening tests can detect the presence of chromosomal abnormalities.

Source: sanger.ac.uk

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