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Genetics

Things to know about diphallia (double penis)

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Diphallia is a rare genetic condition that occurs when a male child is born with penis duplication.

There are different types of diphallia, ranging from partial to full penile duplication. It is very rare to have two fully developed penises, or true diphallia.

Since the first description of diphallia in 1609, researchers have reported only 100 additional cases worldwide. One in every 5–6 million live births may occur.

This article takes a closer look at diphallia, including its symptoms, causes, effects on male life, and treatment options.

What is diphallia?

A person with diphalia may have a partial to complete penile duplication.
A person with diphalia may have a partial to complete penile duplication.

Each case of diphallia is unique, and the amount of duplication varies with each case. Most males with this condition will have two penises of the same size, located side by side.

Some males will have a larger penis above a second, smaller penis. For others, duplication only affects the head of the penis.

Earlier classification described the following three types of diphallia:

  • a duplication of only the tip of the penis, or the glans
  • bifid phallus, wherein each penis has only one column of soft tissue (the corpus cavernosum) instead of two, as is normally the case with true diphallia
  • complete diphallia, wherein there is a complete duplication of the penis

However, the current classifications maintain that there are only two types of diphallia: true diphallia and bifid phallus.

Difallia usually occurs alongside other birth irregularities. These may include:

  • a cleft scrotum
  • hypospadias, wherein the opening to the urethra is on the underside of the penis, instead of the tip
  • duplication of the urethra in both penises
  • no urethras in either penis
  • abnormal heart muscles
  • two bladders
  • a missing anus
  • atypical muscles attached to the bones
  • irregular positioning of the scrotum
  • irregularities affecting the public bone
  • misshapen, rotated, or extra kidneys
  • complications of the kidney and colorectal systems

Males with diphallia are at higher risk of spina bifida. They’re also more likely to be sterile.

How does it happen?

Diphallia is a genetic condition which occurs while the fetus is developing.

During the genital growth the genetic irregularity that causes diphallia takes effect.

Some researchers suggest that exposure between the 23rd and 25th day of gestation to medications, infections or other damage may lead to diphallia, as this is a crucial stage of fetal development.

How does diphallia affect a male’s life?

Males with diphallia can often urinate through one penis, or both. We may also have erections, and they may ejaculate with one or both penises.

Depending on the situation, males with this disorder may have a normal sex life, and may have children.

However, the risk of poorly functioning kidney and colorectal systems is tending to increase. Because of this, children with diphallia may be at increased risk of death due to infections.

That said, if diphallia isn’t correlated with other symptoms, this may not be the case.

Treatment

Surgery is the sole diphallia treatment option. However, treatment aren’t always necessary.

This operation is usually performed by a surgeon at birth or very soon after. The treatment can vary according to the amount of duplication and the existence of other birth abnormalities.

Because each diphallia case is unique, it can be complicated and difficult for the surgery to treat. The main preoccupations are:

  • making sure that the male will be able to urinate normally and have erections
  • reducing the potential risk of infection
  • reducing structural irregularities

Due to the likely age of the male the timing of the surgery will be an important factor. Since doctors also diagnose diphallia at birth, multiple surgeries may be required over time.

People with diphallia often encounter certain birth anomalies, such as hypospadias, duplicated urethras and cryptorchidism (where one or both of these measures do not descend). Researchers report that in many cases surgeons can fix diphallia-associated physical abnormalities.

In one case, some of the infant’s abnormalities were identified by surgeons soon after birth but they only removed the additional penis when the child was a boy.

Males with diphallia do not always opt for treatment, as in a 54-year-old male whose doctor was diagnosed with diphallia during a hernia test. but the patient did not deem it necessary to remove the smaller penis.

Summary

Diphallia is a rare genetic birth irregularity where a male child is born with penile duplication. The overlap may either include the tip of the penis, or result in two penises that are entirely functioning.

If males are born with diphallia, they also often suffer from other birth abnormalities.

The only way to treat diphallia is to surgery. Over several stages surgeons will treat diphallia and other birth irregularities.

Males who have diphallia will lead stable and full lives.

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Genetics

What is Turner syndrome?

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The 46 (or 23 paired) chromosomes in the human body store genetic material. Your sex is determined by your X and Y chromosomes. One X and one Y chromosome are found in the male sex. There are two X chromosomes in the female sex.

Turner syndrome is a chromosomal aberration on one of your sex chromosomes that causes a hereditary condition. Monosomy X, gonadal dysgenesis, and Bonnevie-Ullrich syndrome are all names for the same condition. This is a condition that affects only the female sex.

Turner syndrome is caused by the absence of part or all of one of your X chromosomes. Approximately 1 in every 2,000 girls suffers from this condition.

Turner syndrome people can live long and healthy lives. However, in order to recognize and cure issues, they usually require regular medical attention.

Turner syndrome cannot be prevented, and the cause of the genetic defect is unclear.

Turner syndrome

Symptoms

Turner syndrome affects females and causes them to have particular physical traits from birth and in childhood, such as:

  • obesity
  • droopy eyelids
  • flat feet
  • swollen hands and feet (in infants)
  • short stature
  • a high palate
  • low-set ears

Turner syndrome can cause a variety of medical problems in women, including:

These signs and symptoms might show up as early at infancy. Sexual development and fertility difficulties, on the other hand, can emerge later in adolescence.

Turner syndrome is not diagnosed just on the presence of one or more of these symptoms. It is important that young females who are suspected of having this disease get a comprehensive evaluation by a specialist in order to receive an accurate diagnosis.

Diagnosis

Turner syndrome can be diagnosed through prenatal genetic testing done before delivery. Karyotyping is used to diagnose the condition. Karyotyping, which is done during prenatal testing, can reveal any genetic abnormalities in the mother’s chromosomes.

Tests to seek for physical symptoms of Turner syndrome may be ordered by your doctor. These tests may involve the following:

  • pelvic exam
  • pelvic and kidney ultrasound
  • blood tests to check sex hormone levels
  • chest MRI
  • echocardiogram to examine for heart defects

Complications

Turner syndrome people have an increased risk of developing certain medical conditions. Complications can be managed with proper monitoring and regular examinations.

Abnormalities of the kidneys are very common. Recurrent urinary tract infections are common in Turner syndrome females. The kidneys could be abnormal or positioned incorrectly in the body. High blood pressure can be exacerbated by several disorders.

Hypothyroidism is a condition in which the thyroid hormone levels are abnormally low. Another issue could arise as a result of this. The thyroid gland is inflamed, which causes it. It can be treated with thyroid hormone supplements.

Turner syndrome people are also at a higher risk of getting celiac disease than the general population. Celiac disease is an allergic reaction to the protein gluten, which is found in foods such as wheat and barley.

Turner syndrome patients frequently experience heart problems. Problems with the aorta and high blood pressure should be monitored in people with the condition.

Obesity may be a problem for certain Turner syndrome patients. It has the potential to raise the risk of diabetes.

Living with Turner syndrome

If you’ve been diagnosed with Turner syndrome, you can still live a healthy life. There is no cure, but there are therapies that can help you feel better and live longer.

Children with Turner syndrome may benefit from growth hormone injections to help them grow taller. Hormone therapy can also help with secondary sex characteristics such as breasts and pubic hair development. It’s commonly given at the beginning of puberty.

Women who are unable to conceive due to Turner syndrome can use donor eggs to conceive. For additional information about various methods, your gynecologist can send you to a fertility specialist.

Finding a support group for women with the condition or speaking with a counselor can help you deal with emotional issues as well as any other issues that arise as a result of your condition.

Sources:

  • turnersyndrome.org/copy-of-about
  • ncbi.nlm.nih.gov/pubmedhealth/PMH0001280/
  • ncbi.nlm.nih.gov/pubmedhealth/PMH0001280/
  • https://www.healthline.com/health/turner-syndrome
  • media.wix.com/ugd/8fb9de_1de8ea74ba3c4014be8f8689612ab433.pdf
  • ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/

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Genetics

What to know about Down syndrome

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Down syndrome is a chromosomal condition caused by an extra chromosome 21 due to a chromosomal mistake during cell division.

Down syndrome can have an impact on a person’s cognitive abilities and physical growth, as well as cause developmental differences and an increased risk of certain health issues.

A range of screenings and tests can be used by healthcare providers to diagnose Down syndrome before or after birth.

Down syndrome affects about 1 out of every 700 newborns born.

This post goes through the causes and contributing factors of Down syndrome, as well as the symptoms, diagnosis, and types of Down syndrome, as well as whether or not the condition is inherited or linked to autism.

What is it?

Down syndrome

Down syndrome is a genetic condition that develops when a certain chromosome, chromosome 21, has an extra copy. The additional chromosome can have an impact on a person’s appearance, intelligence, and overall development. It also raises the risk of certain health issues.

Causes

Down syndrome is caused by a variety of reasons, although it is more common among older pregnant people. If a pregnant woman is over the age of 35, there is a greater likelihood of miscarriage.

At the age of 25, a pregnant woman has a 1 in 1,250 chance of having a child with Down syndrome. At the age of 40, the risk is around 1 in 100.

Genes, which have a distinct code or set of instructions for generating cells, are found in every cell in the body. These genes are found in the nucleus of the cell, within chromosomes. Each cell has 46 chromosomes, 23 inherited from the mother and 23 inherited from the father.

Down syndrome is caused by an additional full or partial copy of chromosome 21 in some or all of a person’s cells.

Is Down syndrome a hereditary condition?

Down syndrome is not usually hereditary and does not run in families. Though Down syndrome is caused by genetic flaws, it is most commonly caused by faults that occur when the genetic information that makes a child first unites and copies between a sperm and an egg.

Genetics may play a role in Down syndrome. In rare circumstances, there may be a link between the parents of a person with translocation Down syndrome and their chances of having more children with Down syndrome.

According to the Genetic and Rare Diseases Information Center, if one of the parents has a genetic rearrangement termed a balanced translocation, there may be an increased likelihood of Down syndrome in future pregnancies in the parents of a child with Down syndrome due to translocation. This does not, however, happen in every incidence of translocation Down syndrome.

Characteristics

Down syndrome is characterized by different physical characteristics, distinctive health difficulties, and changes in cognitive development.

Physical characteristics

The following are some of the most prevalent physical traits of Down syndrome:

  • a flat nasal bridge
  • single, deep creases across the center of the palms
  • a protruding tongue
  • small hands and feet
  • eyes that slant upward
  • skin folds on the inner corner of the upper eyelid
  • white spots on the iris
  • low muscle tone
  • small stature and a short neck

Developmental delays

The cognitive development profiles of people with Down syndrome usually indicate mild to severe intellectual disability. Cognitive growth and intellectual capacity, on the other hand, are highly variable.

Learning difficulties are common in people with Down syndrome, resulting in developmental delays. Down syndrome is characterized by a distinct set of cognitive and behavioral characteristics. These are different from what is found in children who are ordinarily developing and children who have various causes of intellectual disability.

Down syndrome children frequently miss developmental milestones compared to their classmates. It’s possible that they’ll take a long time to sit, turn over, and stand.

Coordination and fine motor skills may also be affected (movements using small muscles in the hands and wrists). These abilities can take longer to develop after a kid has mastered gross motor skills, which entail whole-body movement.

It’s possible that learning to speak and understand a language will take longer than intended. With that stated, many of these milestones are eventually reached by people with Down syndrome.

People with Down syndrome may also experience the following symptoms:

  • impulsive behavior
  • a tendency to make poor judgments
  • difficulties with attention

Most people with Down syndrome can go to school and be productive members of society if they are engaged and receive regular therapy.

Health issues

General health issues can sometimes impair any organ system or physiological function. A congenital cardiac abnormality affects about 40–60% of people with Down syndrome.

There’s also a greater chance of:

Children with Down syndrome are also more likely to develop some infections, such as:

Hardening of the arteries, diabetic retinopathy, and most types of cancer appear to be at a decreased risk.

Diagnosis

People who are more likely to have a child with Down syndrome may be subjected to screening and diagnostic examinations.

Doctors can do two different types of screening tests.

Prenatal screenings can help determine the likelihood of having a child with Down syndrome and justify further testing, but they do not diagnose the condition.

Diagnostic testing can determine whether or not a fetus will be born with the condition, as well as identify certain anomalies.

Screening tests

People in their 30s and 35s may be subjected to genetic tests during pregnancy due to the increased risk of having a child with Down syndrome.

These tests are fully elective, and not everyone who is pregnant will opt for genetic screening.

There are a number of screening tests available, including:

  • Cell-free DNA: This is a blood test that looks for fetal DNA in the blood of a pregnant woman.
  • Genetic ultrasound: Doctors combine a thorough ultrasound with blood test data at 18–20 weeks.
  • Nuchal translucency testing: An ultrasound can be used to quantify the clear space in the folds of tissue behind the neck of a developing fetus at 11–14 weeks.
  • Triple screen or quadruple screen: This test measures the amounts of several chemicals in a pregnant woman’s blood at 15–18 weeks.
  • Integrated screen: This combines blood and screening test results from the first trimester, with or without nuchal translucency, with quadruple screening data from the second trimester.

Screening tests can’t tell you if you have Down syndrome.

Screening is a less invasive and less expensive method of determining whether doctors should conduct additional diagnostic testing.

Diagnostic tests

When it comes to recognizing Down syndrome, diagnostic testing are more accurate.

Such tests are normally carried out by a medical practitioner within the uterus.

Diagnostic tests, on the other hand, can increase the risk of:

  • preterm labor
  • fetal injury
  • miscarriage

Diagnostic tests include:

  • Percutaneous umbilical blood sampling: A needle may be inserted into the abdomen after 20 weeks to take a small sample of blood from the umbilical cord for analysis.
  • Amniocentesis: A doctor may put a needle into the abdomen at 14–18 weeks to obtain a little volume of amniotic fluid for testing.
  • Chorionic villus sampling: A doctor may extract a tiny sample of placenta for analysis at 9–11 weeks using a needle placed into the cervix or abdomen.

After a baby is born, a healthcare expert can identify Down syndrome by looking at their:

  • tissue
  • blood
  • physical characteristics

Treatment

Down syndrome does not have a specific treatment. People with the condition, like everyone else, will be treated for whatever health people they may have.

Additional health screening for concerns common to people with the condition may be recommended by healthcare experts.

Early intervention with specialized programs, according to the National Institute of Child Health and Human Development, can help a person maximize their potential and prepare to play an active role in the community. Early intervention may assist people with Down syndrome have better results.

Working with a group of specialists can provide the child with stimulus and encouragement as they grow. This can include a variety of specialists from many fields who can assist the person in their development. These experts could include:

  • special educators
  • occupational therapists
  • social workers
  • physicians
  • physical therapists
  • speech therapists

Children with specific learning and developmental issues may qualify for educational assistance at a public or specialized school.

Children with Down syndrome are entitled to an educational environment that is appropriate for their requirements, with additional support to help them integrate and progress.

Some children will have an Individualized Education Program (IEP), which will be supported by a variety of specialists.

Types

Down syndrome exists in a range of types:

  • Trisomy 21: This is the most prevalent kind, accounting for around 95% of all cases. It occurs when a person’s people have 47 chromosomes instead of 46. Trisomy 21 is caused by a nondisjunction mistake in cell division. A sperm or egg cell with this mistake has an extra copy of chromosome 21 before or after fertilization.
  • Mosaic Down syndrome: This kind is found in roughly 2% of Down syndrome people. Some of the children’s chromosomes will have a third copy of chromosome 21, while others will have two copies. Depending on the number of cells with 2 or 3 copies of chromosome 21, children have fewer characteristics of the condition.
  • Translocation Down syndrome: This accounts for around 3% of all Down syndrome instances. During cell division, a piece of chromosome 21 breaks off and joins to another chromosome, generally chromosome 14. Some Down syndrome causes are caused by the presence of this additional chromosome 21 segment. A person who has a translocation does not have any distinguishing physical characteristics, but they are more likely to have a child who has an additional chromosome 21.

Autism vs. Down syndrome

Down syndrome and autism spectrum disorder are two disorders that might cause a person’s cognitive abilities. There are several significant variances between these conditions.

Unlike Down syndrome, there are no distinguishing physical traits that can be used to identify someone with autism.

Down syndrome is a hereditary condition caused by mutations in the genes. Autism is a neurological condition, and the cause of the disorder is unknown.

Both illnesses can cause speech or learning problems when compared to a typical child of a comparable age, and how this manifests itself varies depending on the condition and individual.

Neither condition has a cure. Most people will employ a variety of treatment and therapy techniques to aid in the management of their condition or the improvement of important areas of their lives.

Outlook

Many tasks that other people can do can be done by a person with Down syndrome. Children may take longer to learn basic abilities like walking and talking, but with early stimulation and treatment, they can develop at their own speed and attend school.

With Down syndrome, people can work and live semi-independently depending on how the condition affects them.

Friendships and relationships are essential for people with Down syndrome. Some will live with a companion or marry and enjoy a self-sufficient existence.

According to the Centers for Disease Control and Prevention (CDC), a person with Down syndrome’s life expectancy has grown dramatically due to current advances in medicine and therapy. In 1960, the average lifespan of a person with Down syndrome was ten years. In 2007, the average lifespan of a person with Down syndrome was 47 years.

Due to current developments in healthcare, early therapies, and successfully controlling congenital concerns such as heart disorders, a person born with Down syndrome today has the highest chance of living a long and fulfilling life.

Conclusion

Down syndrome is caused by a chromosome 21 abnormality. This mistake gets copied into the genes, resulting in a collection of Down syndrome-like traits. Physical traits, developmental disabilities, and the risks of various health concerns are also factors to consider.

While Down syndrome has no cure, early intervention can help a child develop and thrive at their own speed. People with Down syndrome now have a better outlook than ever before because to modern developments in healthcare and therapy, which is likely to continue as additional medical advances are made.

Sources:

  • https://www.genome.gov/Genetic-Disorders/Down-Syndrome
  • https://www.ncbi.nlm.nih.gov/books/NBK526016/
  • https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html
  • https://www.down-syndrome.org/en-gb/about-down-syndrome/development
  • https://www.medicalnewstoday.com/articles/145554
  • https://rarediseases.info.nih.gov/diseases/10247/down-syndrome
  • https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
  • https://www.nichd.nih.gov/health/topics/down/conditioninfo/diagnosis
  • https://www.ucsfhealth.org/education/prenatal-testing-for-down-syndrome
  • https://www.stanfordchildrens.org/en/topic/default?id=pregnancy-over-age-30-90-P02481
  • https://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/treatments.aspx

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Bones / Orthopedics

Achondroplasia: What to know

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Achondroplasia is an uncommon genetic condition that causes in low height and bent legs. It’s caused by a genetic mutation that’s more common in the offspring of older males.

Dwarfism is a condition in which a person’s development is limited owing to medical or genetic causes. Although dwarfism can be caused by a variety of factors, achondroplasia is responsible for around 90% of instances. Achondroplasia is a genetic ailment that can run in families, although most people who have it don’t have a parent who has it.

The genetics of achondroplasia, including the mutation that causes it, are discussed in this article. We also go through how heritable the condition is, who is most prone to have it, and what symptoms it causes.

Meaning

Achondroplasia
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Achondroplasia is a condition that inhibits bone development, according to a study from 2021. It can cause a variety of symptoms, including:

  • large head size
  • short digits
  • stiff elbows
  • short stature
  • bowed legs

These symptoms, according to the analysis, can have a major impact on people’s quality of life and capacity to accomplish everyday chores. Shorter height combined with tight elbows, for example, might make it harder to reach goods. Walking with bowed legs can be difficult and uncomfortable.

As a result of abnormal bone growth, people with achondroplasia can develop lumbar spinal stenosis. This condition causes the nerves in the spine to be compressed, resulting in pain, weakness, and mobility issues. It’s a serious complication that’s the leading cause of disability in achondroplasia people later in life.

Sleep apnea and hearing issues are two further achondroplasia consequences. The condition also reduces people’s life expectancy by about ten years compared to the general population.

The condition has no known treatment. Doctors, on the other hand, might prescribe a variety of therapy choices for achondroplasia symptoms and problems. These may include the following:

  • ear tubes for middle ear problems
  • guided bone growth
  • spinal fusions

These therapies can help people with achondroplasia minimize their symptoms and enhance their capacity to conduct daily duties.

Causes

A mutation in the FGFR3 gene leads to achondroplasia.

Genetic mutations are variations in genes that result in individual variances. Genes give instructions to cells in the body and control how they develop, interact, and perish. Any stage of this process can be influenced by genetic mutations, which can result in a wide range of features.

The fibroblast growth factor 3 (FGFR3) protein is encoded by the FGFR3 gene. This protein has an impact on cell division, maturation, and the formation of structures like bones. Overactive FGFR3 is caused by FGFR3 gene mutations, which might impact growth.

The FGFR3 gene mutation that causes achondroplasia causes a reduction in bone development in certain people.

Mutations in genes happen all the time and are typically innocuous. They may appear for no apparent cause. Prenatal exposure to pollutants, on the other hand, may increase the likelihood of FGFR3 gene alterations, according to some inconsistent data. As a result, this might be a risk factor for achondroplasia, however additional study is needed to prove the link.

is it hereditary?

Because parents transmit genes on to their children, achondroplasia can run in families. Someone who carries a FGFR3 gene mutation may pass it on to their kid, who may subsequently get the condition.

Achondroplasia, on the other hand, is uncommon, and according to a 2020 study, roughly 80% of people with the condition had parents of ordinary height. These parents’ chances of having another kid with the condition are extremely slim.

When one or both parents have achondroplasia, the situation becomes more complicated. If both parents have the condition, there is a chance that:

  • 25% chance that the child will have homozygous achondroplasia, which causes death during infancy
  • 50% chance that the child will have achondroplasia
  • 25% chance that the child will have average stature

Who does it affect?

A variety of other genetic variables can influence the likelihood of developing achondroplasia. Despite having parents who do not have achondroplasia, the age of the father can increase the probability of a person getting the FGFR3 gene mutation. Children born to fathers over the age of 34 are more likely to develop achondroplasia as they grow older if they carry the FGFR3 gene mutation.

According to research, around 1 in every 15,000 children will have the condition. However, skeletal dysplasia affects one out of every 1,875 children whose dads are beyond the age of 50 at the time of their birth. Skeletal dysplasia, which includes achondroplasia, is a collection of conditions that damage bone and cartilage cells.

It’s unknown if additional variables have a role in the development of achondroplasia.

According to a comprehensive evidence assessment published in 2020, achondroplasia is more frequent in specific parts of the world, such as North Africa, Sub-Saharan Africa, and the Middle East. The authors do note, however, that the quality of data from these areas is weak, and that additional research is required.

Conclusion

Achondroplasia is a bone-growth condition caused by a rare genetic mutation. It causes a number of issues that have an impact on everyday life, such as difficulties walking and reaching.

Achondroplasia people can pass on the genetic mutation that causes the condition to their offspring. Many offspring of people who have the condition, on the other hand, will not develop it.

If the father is above 35 years old at the time of the kid’s birth, the chances of the child developing achondroplasia rise.

Sources:

  • https://pubmed.ncbi.nlm.nih.gov/31294928/
  • https://www.cancer.gov/publications/dictionaries/cancer-terms/def/fgfr3-gene
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540685/
  • https://www.medicalnewstoday.com/articles/achondroplasia
  • https://www.ncbi.nlm.nih.gov/books/NBK1152/
  • https://www.ncbi.nlm.nih.gov/books/NBK559263/

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