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Fertility

Ovulation: Everything you need to know

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Ovulation refers to the release of an egg during female menstruation.

An egg discharges a part of the ovary called the ovarian follicle. The egg is also known as gamete ovum, oocyte, or female. This is released on maturity maturity only.

The egg moves down the Fallopian tube after release, where it can be met by a sperm and become fertilized.

During the menstrual cycle, ovulation and hormone release are regulated by a part of the brain called the hypothalamus. This sends out signals to secrete luteinizing hormone ( LH) and follicle-stimulating hormone (FSH) to the anterior lobe and pituitary gland.

Knowing when ovulation is likely to occur is beneficial, because a woman is most fertile during this period, and more likely to conceive.

Phases

Ovulation is the release of an egg, or ovum, which may then be fertilized by a sperm cell or dissolved during menstruation.
Ovulation is the release of an egg, or ovum, which may then be fertilized by a sperm cell or dissolved during menstruation.

Throughout the menstrual cycle the ovulation process is characterized by a duration of high hormones. It is divisible into three phases:

  1. The periovulatory or follicular phase: A layer of cells around the ovum begins to mucify, or become more like mucus, and expand. The uterus lining begins to thicken.
  2. The ovulatory phase: Enzymes are secreted and form a hole, or stigma. The ovum and its network of cells use the stigma to move into the fallopian tube. This is the period of fertility and usually lasts from 24 to 48 hours.
  3. The postovulatory or luteal phase: LH is secreted. A fertilized egg will be implanted into the womb, while an unfertilized egg slowly stops producing hormones and dissolves within 24 hours.

The uterus lining often starts to break down and prepares to leave the body during menstruation, or menstruation.

When does it occur?

A woman’s menses last from 28 to 32 days on average.

The beginning of every cycle is considered to be the menses’ first day. The release of the egg happens normally 12 to 16 days before the next cycle is due.

Most females start menstruating between the ages of 10 and 15 years. Around the same time, they continue ovulating and are capable of conceiving. It is a time which is called the menarche.

Ovulation usually ceases after menopause, on average between the ages of about 50 and 51 years, although it also happens in the period leading up and menopause. It is called peri-menopause.

Detection

There are many signs a woman ovulates.

The cervical mucus rises in thickness during ovulation, and becomes thicker due to elevated levels of estrogen. Around the most fertile stage of a woman the cervical mucus is often compared to egg whites.

Slight changes in body temperature can also occur. It is driven by the progesterone hormone, which is secreted at release of an egg. Females are typically most fertile for 2 to 3 days before their average temperature reaches.

The gradual increase in temperature can be monitored using a basal thermometer. It can be purchased online, or in most drug stores.

Many people experience a slight ache in the lower abdomen or pang of discomfort. It is known as pain in the Mittelschmerz. This can last several minutes to a couple of hours.

Eventually, predictor kits of ovulation, available in drug stores, can detect the rise in luteinizing hormone ( LH) in urine just before ovulation.

Ovulation calendar

Ovulation calendar and website
There are apps and websites that can help to predict when ovulation will occur, increasing the chances of conception.

The aim of an ovulation calendar is to help a woman predict when she will be most fertile.

There are several websites and apps which support this process by asking questions such as:

  • When was the beginning of your last menstrual cycle?
  • How long do your menstrual cycles generally last?
  • How long is your luteal phase, or the time between the day after ovulation to the end of your cycle?

Women usually find it useful to document or map menstrual details for calendar entry. Holding menstrual cycle monitor can also be crucial to highlighting any irregularities.

Disorders

Issues with the ovulation process can lead to infertility or difficulty conceiving.

Polycystic ovarian syndrome

A woman with PCOS has swollen ovaries, frequently with small, fluid-filled cysts on them. This can contribute to an imbalance in the hormone which can hinder ovulation.

Certain signs can include insulin resistance, obesity, hair growth that is irregular and acne.

PCOS is female leading cause of infertility.

Hypothalamic dysfunction

This is when the FSH and LH hormone output is interrupted. The hormones that induce ovulation are these. That can affect the process of menstruation.

It is normal to have irregular menstrual cycles and amenorrhea which means no menstruation at all.

Hypothalamic dysfunction can include severe physical or emotional stress, excessively high or low body weight or substantial weight gains or losses.

Excessive exercise, low body weight and hypothalamus tumors may also cause hypothalamic dysfunction.

Premature ovarian insufficiency

It is when development of eggs ceases prematurely, leading to a decrease in levels of estrogen.

This may be due to an autoimmune disease, genetic or environmental toxins.

Usually it affects women before they are 40 years old.

Hyperprolactinemia, or excess prolactin

Women may produce excessive quantities of prolactin in some cases, such as the use of medicine or an abnormality in the pituitary gland that produces hormones.

It can in effect contribute to a decline in the development of estrogen.

Another less common cause of ovulatory dysfunction is excess prolactin.

Induction

Fertility drugs can cause ovulation.

These drugs are known to control ovulation, or cause it. Doctors may prescribe the following for the treatment of anovulation, or for ovulation to cease.

Brand names are in brackets.

  • Clomiphene citrate (Clomid): This oral medication increases pituitary secretion of FSH and LH, stimulating ovarian follicles.
  • Letrozole (Femara): This works by temporarily lowering a woman’s level of the hormone progesterone to stimulate ovum production.
  • Human menopausal gonadotropin or hMG (Repronex, Menopur, Pergonal) and FSH (Gonal-F, Follistim): These injectable medications are known as gonadotropins and stimulate the ovary to produce several eggs for ovulation.
  • Human chorionic gonadotropin or hCG (Profasi, Pregnyl): This matures eggs and subsequently triggers their release during ovulation.
  • Metformin (Glucophage): This medication is typically used in women with PCOS to treat insulin resistance and increase the chances of ovulation.
  • Bromocriptine (Parlodel) and Cabergoline (Dostinex): These medications are used in cases of hyperprolactinemia.

Be mindful that taking fertility drugs will make you more likely to have twins or triplets. This can cause side-effects, including:

  • abdominal pain
  • hot flushes
  • heavy menstrual flow
  • tenderness in the breasts
  • vaginal dryness
  • increased urination
  • spots
  • insomnia
  • mood swings

When these get serious, a doctor can consider other options.

Fertility

All you need to know about IVF

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IVF is the most frequent and effective type of assisted reproductive technology for assisting people in becoming pregnant. When other treatments have failed, IVF can help you get pregnant.

An egg is fertilized outside the body, in a laboratory dish, and then implanted in a person’s uterus.

The most frequent and effective type of assisted reproductive technology is in vitro fertilization (IVF) (ART). ART is used to conceive roughly 2.1 percent of kids born in the United States each year, according to the Centers for Disease Control and Prevention (CDC). With IVF, there’s also a higher risk of multiple births.

The IVF procedure is discussed in this article. It covers everything from success rates to expenses to screenings and everything in between.

What is IVF

Overview of IVF

Louise Brown, the first baby born through IVF, was born in 1978. IVF is credited to Robert Edwards and Patrick Steptoe, who worked together on the treatment.

An egg grows and matures in the ovary during a normal pregnancy. The ovary releases the egg during ovulation.

The sperm go via the uterus and into the fallopian tube in search of the egg, which they pierce and fertilize. After that, the fertilized egg, or embryo, adheres to the uterus wall and begins to develop into a baby.

IVF, on the other hand, may be a viable alternative for the following reasons:

  • male factor infertititly or abnormal sperm parameters
  • a person’s fallopian tubes are blocked
  • a person is unable to get pregnant naturally
  • a person or couple is diagnosed with unexplained infertility

The IVF process

One IVF treatment cycle might take 3–6 weeks, according to the Human Fertilization and Embryology Authority in the United Kingdom. However, depending on their risk factors and the treatment’s effectiveness rate, a person may require more than one round.

Depending on the clinic, several techniques may be used. IVF, on the other hand, usually entails the following steps:

1. Superovulation

Controlled ovarian hyperstimulation is another name for superovulation. Luteinizing hormone or follicle-stimulating hormone are both found in fertility treatments. The ovaries create more eggs than usual as a result of these hormones. Transvaginal ultrasound scans can be used to track the ovaries’ growth and development.

A person can also use donated or frozen eggs as an option.

2. Retrieving the eggs

To extract eggs, doctors use a minor surgical technique known as “follicular aspiration” or “egg retrieval.”

A tiny needle is injected through the vaginal wall and into an ovary under ultrasound supervision. The needle is connected to a suction device that suctions out the follicular secretions and eggs. This procedure is carried out by doctors for each ovary.

3. Insemination, fertilization, and embryo culture

The obtained eggs are mixed with sperm and maintained in a temperature-controlled facility. The sperm should penetrate the egg after a few hours.

The sperm is sometimes put straight into the egg. Intracytoplasmic sperm injection is the term for this procedure (ICSI). Frozen sperm obtained via testicular biopsy could be used.

The fertilized egg divides into two and develops into an embryo. Many fertility clinics offer preimplantation genetic testing once the embryos have reached the blastocyst stage (PGT). An embryo is screened for chromosomal abnormalities or aneuploidies using this approach.

One or two of the best embryos are used in the transfer. The uterine lining is then prepared for the embryo’s implantation using hormones and other drugs.

4. Embryo transfer

The womb may receive more than one embryo at a time. It’s important to talk to your doctor about the amount of embryos you’ve transferred.

Typically, the doctor will only transfer one embryo at a time. Several risk considerations must be considered before deciding to transfer more than one embryo, which should be discussed with a clinician.

The embryo is transferred using a thin tube or catheter around 3–5 days after conception. It enters the uterus via the vaginal canal. A pregnancy begins when the embryo adheres to the uterine lining, a process known as implantation, and embryo growth proceeds.

IVF success rates

According to the CDC, the percentage of planned egg retrievals that resulted in live birth deliveries in 2019 was:

  • 52.7% among people aged under 35 years
  • 38% among people aged between 35–37 years
  • 24.4% among people aged between 38–40 years
  • 7.9% among people over the age of 40

These figures differ depending on where the procedure is performed.

Other considerations

The most important risk factor affecting the success rate of IVF is age.

However, there are a number of other elements that can influence your chances of success, including:

  • the cause of infertility
  • ovarian reserve test results
  • whether or not pregnancy or a live birth has occurred before
  • the strategy that will be used

IVF costs

In the United States, the average cost of an IVF cycle ranges from $10,000 to $15,000. Some insurance companies, however, fund infertility treatments like IVF. As a result, a person with health insurance may be able to save money on IVF treatment.

Coverage will be determined by the health insurance company and the state in which the individual resides. Currently, 17 states in the United States have laws requiring insurance companies to cover or offer coverage for infertility treatment.

Due date calculator for IVF

A due date calculator can be used to calculate an estimate of a person’s due date.

Many websites, including Flo Health, have a calculator that may be used to determine a person’s due date based on information such the embryo transfer date and the type of transfer they had. The calculators include the following:

  • Day 3 embryo transfer
  • Day 5 embryo transfer
  • IVF with own eggs
  • IVF with fresh donor eggs cycle
  • Fresh donor embryos cycle

Screenings

To establish the sex of the embryo and to rule out any genetic anomalies, screening and testing are available.

Preimplantation genetic testing (PGT) was originally a process used by clinicians to discover genetic diseases in the DNA of an embryo. These could cause a birth defect or a developmental problem.

Doctors are now using this approach to determine the sex of an embryo before it is implanted during IVF. Doctors can examine the embryo’s chromosomal make-up to predict whether it will be male or female.

Preimplantation testing is available at about 72 percent of contacted ART facilities, according to a 2018 survey.

IUI vs. IVF

Intrauterine insemination (IUI), commonly known as artificial insemination, is a method in which sperm is delivered directly to the uterine cavity via a catheter. This method shortens the time and distance that the sperm must travel to fertilize the egg.

This differs from IVF, which involves combining eggs and sperm outside of the body in a controlled setting.

IUI is typically used to treat couples with unexplained infertility and mild male factor infertility. In addition to IUI, a woman may be given medicine to help her ovulate. During the ovulation time, a doctor will inject the sperm into the uterus.

In comparison to IVF, IUI is a quick treatment that takes about 5–10 minutes. IUI is also less expensive than IVF. Without insurance, IUI costs between $300 and $1,000 on average.

IUI, on the other hand, is less successful than IVF.

The body’s natural processes will take over once the sperm is put into the uterus by doctors. Doctors can use IVF to check if an egg has been fertilized and choose the best embryo (s).

IUI has a success rate that is roughly a third of that of IVF.

In addition, IUI may not be an appropriate reproductive treatment in the following situations:

  • is in their late 30s or over 40
  • has low-quality eggs
  • has a low number of eggs
  • has blocked fallopian tubes
  • has severe endometriosis

If the reason for infertility treatment is severe male factor infertility, this treatment is equally ineffective.

Insemination vs. ICSI

ICSI is a fertilization procedure that involves injecting a single sperm into an egg.

ICSI is a frequent treatment for male factor infertility in couples. It may also boost the chances of fertilization in people who have had previous IVF failures. It’s also for preimplantation genetic testing-enabled cycles.

ICSI is linked to a slightly greater risk of birth abnormalities, according to the American College of Obstetricians and Gynecologists, including:

Side effects

During IVF, many people will have few to no adverse effects. Some people, however, may develop negative side effects. These may include the following:

  • irritability
  • nausea
  • headaches
  • fatigue
  • abdominal pain
  • sore breasts

These symptoms are most common during the IVF ovarian stimulation phase. The following side effects may occur in a small percentage of people:

  • vomiting or abdominal pain that requires hospital admission
  • dehydration
  • shortness of breath

Some people may have changes in mood as well.

Is it painful?

Although some people may suffer moderate discomfort throughout the IVF process, it is usually not painful.

There may be mild bruising and pain at the injection site because IVF involves the infusion of fertility drugs. Abdominal cramps, which can be unpleasant, is another possibility.

Because pain medication is provided before the procedure, the egg retrieval technique is usually painless.

Embryo transfer is frequently painless as well.

Risks with IVF

The following are some of the hazards connected with IVF:

Medication side effects

Some people may experience side effects from the drugs used during treatment.

The following are some of the probable negative effects of IVF drugs:

  • hot flashes
  • enlargement of the ovaries
  • difficulty sleeping
  • abdominal pain
  • nausea and vomiting
  • difficulty breathing
  • irritability

Ovarian hyperstimulation syndrome (OHSS)

The drugs used to stimulate the ovaries to generate eggs can cause OHSS in rare cases. This occurs when a person’s body overreacts to the prescriptions they’re taking, causing their hormone levels to rise.

OHSS people have a large number of developing follicles as well as high estrogen levels. This causes fluid to cause into the belly, causing bloating, nausea, and abdominal swelling.

The following symptoms may occur in people with severe OHSS:

  • dehydration
  • vomiting
  • blood clots
  • shortness of breath

Pregnancy loss

An abnormal number of chromosomes, known as chromosomal aneuploidy, is the major cause of pregnancy loss, whether in IVF or spontaneous conception.

An embryo is tested with PGT to look for aneuploidy.

Multiple births

When more than one embryo is transferred to the uterus, the chances of conceiving twins, triplets, or more infants increase.

Pregnancies with multiple fetuses can lead to:

  • significant increase in the mother’s blood pressure
  • double the mother’s risk of developing diabetes
  • preterm birth or low birth weight

In people who have a higher likelihood of conceiving twins, the doctor may prescribe that only one embryo be transferred.

Sources:

  • https://medlineplus.gov/assistedreproductivetechnology.html
  • https://www.cdc.gov/art/index.html
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904054/
  • https://jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-020-09347-w
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035132/
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087828/
  • https://www.medicalnewstoday.com/articles/262798
  • https://www.hfea.gov.uk/treatments/explore-all-treatments/in-vitro-fertilisation-ivf/
  • https://www.cdc.gov/reproductivehealth/infertility/
  • https://www.pfcla.com/blog/intrauterine-insemination-success-rates
  • https://www.nhs.uk/conditions/ivf/
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171154/
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467930/
  • https://www.sciencedirect.com/science/article/pii/S2590161319300985
  • https://www.ncsl.org/research/health/insurance-coverage-for-infertility-laws.aspx
  • https://www.nature.com/articles/nrg.2016.97
  • https://www.plannedparenthood.org/learn/pregnancy/fertility-treatments/what-ivf

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Endocrinology

Irregular periods: Things you need to know

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The normal length of the menstrual cycle of a woman is 28 days, but between individuals, this varies. When the length of the cycle is longer than 35 days, or if the duration varies, irregular menstruation occurs.

The part of the menstrual cycle in which the endometrium is shed, which is the lining of the uterus, is a period or menstruation. This appears as bleeding that is released through the vagina from the womb.

Periods usually start between 10 and 16 years of age during puberty and continue until menopause, when a woman is 45- to 55-year-old.

If there is a change in the method of contraception, a hormone imbalance, hormonal changes around the time of menopause, and endurance workouts, irregular periods, also called oligomenorrhea, can occur.

Treatment for irregular periods during puberty and around menopause is not usually necessary, but medical advice may be needed if irregular periods occur during the reproductive years.

Causes

In regular menstruation, a woman’s cycle follows a predictable pattern.
In regular menstruation, a woman’s cycle follows a predictable pattern.

The chance of irregular menstruation is enhanced by a number of factors. Most are related to the production of hormones. Estrogen and progesterone are the two hormones that affect menstruation. These are the cycle-regulating hormones.

Hormonal influences

Puberty, menopause, pregnancy and childbirth, and breastfeeding are life cycle changes that influence hormonal balance.

The body undergoes major changes during puberty. Ostrogen and progesterone can take several years to achieve a balance, and at this time, irregular periods are common.

Women often have irregular periods prior to menopause, and the amount of blood shed may vary. Menopause happens when 12 months have passed since the last menstrual period for a woman. A woman will have no more periods after menopause.

Menstruation ceases during pregnancy, and most women do not have periods while they are breast-feeding.

Irregular bleeding can be caused by contraceptives. Heavy bleeding can be caused by an intrauterine device (IUD), whereas the contraceptive pill can cause spotting between periods.

She can experience small bleeds that are usually shorter and lighter than normal periods when a woman first uses the contraceptive pill. These usually disappear after a couple of months.

Other changes which are linked to irregular periods include:

  • extreme weight loss
  • extreme weight gain
  • emotional stress
  • eating disorders, such as anorexia or bulimia
  • endurance exercise, for example, marathon running.

Missed or irregular menstruation is also connected to a number of disorders.

Symptoms

A menstrual cycle lasts around 28 days, but, depending on the individual, it can vary from 24 days to 35 days.

Each year, most females have between 11 and 13 menstrual periods. Bleeding generally takes about 5 days, but it can vary from 2 to 7 days, too.

It can take up to 2 years to establish a regular cycle when menstruation first starts. Most women’s menstruation is routine after puberty. Similar is the length of time between each period.

However the time between periods and the quantity of blood shed varies considerably for some women. This is referred to as irregular menstruation.

When the cycle is longer than 35 days, or if it varies in length, the main symptom of irregular menstruation is

This is also considered irregular if there are changes in blood flow, or if clots appear that are over 2.5 centimeters in diameter.

Complications

Sometimes, irregular periods can indicate a health problem, and some of these can lead to further problems, such as fertility problems.

Polycystic ovarian syndrome (PCOS) is a condition in which the ovaries develop a number of small, fluid-filled sacs known as cysts.

There is no ovulation for a woman with PCOS and she does not release an egg every month. Irregular or no periods, obesity, acne, and excess hair growth are symptoms.

Male sex hormone, androgen, or testosterone levels are unusually high for women with PCOS.

PCOS affects between 10 percent and 20 women of reproductive age, or up to 5 million American women, according to the Office on Women’s Health at the United States Department of Health and Human Services. PCOS has been diagnosed in girls as young as 11 years old.

Cancer of the uterus
Cancer of the uterus or the cervix can cause unusual bleeding.

Irregular periods may be caused by a thyroid disorder. The thyroid gland generates hormones that control the metabolism of the body.

In rare cases, cervical or uterine cancer, or womb cancer, can cause bleeding between periods or during sexual intercourse.

Endometriosis is a disease in which cells, called endometrial cells, that are usually located within the uterus develop outside the uterus. In other words, outside of it the lining of the inside of the uterus is located.

Endometrial cells are the cells that menstruate every month, so during their childbearing years, endometriosis is more likely to affect women.

The cellular formation involved in endometriosis is not cancerous. No symptoms can occur, but it can be painful and may lead to other problems. It may damage the tissue if the released blood gets trapped in the surrounding tissue, causing extreme pain, irregular cycles, and infertility.

A female reproductive system infection is a pelvic inflammatory disease (PID). Among women, apart from AIDS, it is the most prevalent and severe complication of sexually transmitted infections (STIs).

It can be treated with antibiotics if it is diagnosed early, but if it spreads, it can affect the fallopian tubes and the uterus, causing chronic or long-term pain. There are several signs, including bleeding after sex and between periods.

Home remedies

It may help to reduce the risk of some of the causes of irregular periods by maintaining a healthy lifestyle.

This includes:

  • exercising regularly to maintain a healthy weight and reduce stress
  • following a healthful diet

Some herbal remedies are all said to help, such as black cohosh, chasteberry, licorice root, and turmeric, but their effectiveness has not been proven by studies, and they may have adverse effects. It is better to speak to a doctor first.

Treatment

Therapy, if necessary, will depend on the cause.

Puberty and menopause: Treatment is usually not necessary for irregular periods that occur during puberty or as a woman approaches menopause.

Birth control: If irregular bleeding is caused by contraception and continues for several months, the woman should discuss other options with a health care professional.

PCOS and obesity: Overweight or weight-loss obesity may help stabilize menstruation in cases of PCOS. A lower weight means that so much insulin does not need to be produced by the body. This results in lower levels of testosterone and a better chance of ovulating.

Thyroid Problems: Treatment is likely to be prescribed for the underlying problem. Medication, radioactive iodine therapy or surgery may include this.

Stress and eating disorders: Psychological therapy may help if irregular periods have been triggered by emotional stress, an eating disorder, or sudden weight loss. This may include techniques for relaxation, management of stress, and talking to a therapist.

Medication

Metformin, an insulin-lowering oral drug for type 2 diabetes, may be prescribed by a doctor to help ensure ovulation and regular periods.

A low-dose birth control pill that contains a mixture of progesterone and estrogen may help. This will reduce the production of androgen and will help to correct abnormal bleeding.

Alternatively, it is likely that periods will be controlled by taking progesterone for 10 to 14 days each month.

Pregnancy

Irregular periods can indicate a fertility problem, but that is not always the case. There may be ovulation, even while menstruation is irregular.

Here are some things you can do to track ovulation:

  • Mark any periods on a calendar, and look for patterns.
  • Check for changes in cervical mucus. As ovulation approaches, the mucus will be more plentiful, slippery, clear, and stretchy.
  • Take your temperature each day and note when it spikes. This can indicate that ovulation is occurring.

These records will help a doctor reach a diagnosis if irregular periods are linked to fertility issues.

Medical advice should be sought by anyone concerned about irregular menstruation.

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Endocrinology

Androgen insensitivity syndrome: What to know

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The disease of androgen insensitivity is an unusual genetic condition in which male hormones do not respond to a male fetus.

The disorder affects the growth of the genitals and the reproductive system.

It is also known as Reifenstein syndrome, Rosewater syndrome, incomplete testicular feminization, or Type 1 familial incomplete male pseudohermaphroditism.

A newborn with androgen insensitivity syndrome (AIS) tends to be female, although it is rare to have reproductive characteristics. The scale of the vagina and the lack of ovaries , fallopian tubes, or the womb can be abnormal. The testicles can stay in the abdomen or inguinal canal.

AIS impacts between 2 and 5 of every 100,000 people in the United States (U.S.).

Individuals with AIS have a normal life span but will need clinical support and hormone therapy.

Important facts about androgen insensitivity syndrome

  • Androgen insensitivity syndrome (AIS) causes the development of abnormal sexual organs.
  • The condition is genetic and affects the Y chromosome that shapes male sexual development.
  • AIS can be graded on a scale from one to 7. One is very mild, and 7 refers to complete AIS.
  • Gender identity is an extremely important concern for people with AIS, as their genitals may be male at an internal level but female in appearance. Counselling can assist with this.
  • Undescended testicles can be released or removed by surgical means, and hormone therapy may be used to nurture a person with AIS towards their preferred gender.

What are sex chromosomes?

Androgen insensitivity syndrome
Androgen insensitivity syndrome is caused by a mutation to the Y chromosome that programs male sexual development.

Sex chromosomes are a pair of molecules of DNA, called X or Y, that determine the sexual development of an individual.

  • A female has two X chromosomes known as XX
  • A male has one X and one Y chromosome, or XY

The Y chromosome induces the testes to develop and prevents the growth of the female ovaries. The female reproductive system and genitals grow spontaneously because there is no Y chromosome.

Male genitals and reproductive organs should be produced by an child born with XY chromosomes. The male reproductive organs that contain androgens, or male hormones, are the testes, or testicles. These hormones allow male traits and sex organs, such as the penis, to develop.

Causes

Both male and female embryos have the same genitals for the first 8 weeks of growth. Either a female or male reproductive system can develop.

A healthy XY embryo will develop male genitals, as the testes will release androgens.

Since a genetic change results in a limited number of androgen receptors, the body of a person with AIS will not respond to the androgen. Full androgen insensitivity syndrome (CAIS) can contribute to a complete loss of response.

Instead of falling to the scrotum, the testicles remain in the body. The genitals, seen from outside the body, would mimic those of a person.

An individual with AIS inherits the mutated gene from their mother in 70 percent of cases.

A carrier may be a female with one abnormal X chromosome. A carrier is a woman who has the impaired gene while contemplating AIS and can carry it on without feeling its effects. Her female offspring may also be carriers, and the disease may be due to her male offspring.

Other cases are thought to arise from a defect that occurs either before the eggs of the mother are created or shortly after conception of an embryonic cell. However, the precise explanation is unclear.

AIS is an intersex disorder that is distinct from dysphoria in gender. An individual with gender dysphoria produces natural reproductive organs and genitals, but believes it is not true for their assigned sex. Gender dysphoria is encountered by people who are transgender.

Types

There are 3 forms of androgen insensitivity syndrome:

  • Complete: A person with CAIS will have female external genital features, and is likely to develop as a female.
  • Partial: In partial androgen insensitivity syndrome (PAIS), there is some sensitivity to androgen. Depending on the level of sensitivity, the person may appear completely male or female, or they may have some features of both sexes. Children born with this condition may grow into either females or males, depending on their degree of androgen sensitivity and subsequent genital development.
  • Mild: Mild androgen insensitivity syndrome (MAIS) affects males during puberty. They may form female breast tissue. A boy with MAIS may also not be able to produce effective sperm.

Signs and symptoms

A typical symptom of AIS is infertility, but it does not occur in mild cases.

It would not develop the internal reproductive organs of females born with AIS, causing infertility. Non-development of reproductive organs is attributed to the release of male hormones by testes in the body.

Complete androgen insensitivity syndrome

If an inguinal hernia is present in a child, it could be due to undescended examination. In children, between 0.8 and 2.4 percent of inguinal hernia cases are due to CAIS.

Normally, at birth, there are no outward signs or symptoms, and the disorder does not manifest before the person reaches puberty. When the person may not grow pubic or underarm hair, CAIS will become evident, and menstruation may not begin.

Females experiencing CAIS will have a short “ pouch ”vagina.

Partial androgen insensitivity syndrome

Child growth is impaired by partial androgen insensitivity. During puberty, an individual with high insensitivity may grow as a girl. Those with low insensitivity will develop as boys, but breasts may start to develop. They may have a clitoris that is somewhat enlarged or an almost completely developed penis.

A child will develop as a boy, but with the onset of puberty, more female traits develop.

Diagnosis

Androgen insensitivity, if the genitals look irregular, may be detected at birth. For eg, this may be detected if the presence of the genitals does not correlate to that expected by prenatal amniocentesis.

Chorionic Villus Sampling (CVS) can show AIS during pregnancy. In CVS, for research, cells are drawn from the placenta.

A physician may diagnosis AIS if a woman has an inguinal hernia, is having difficulties conceiving, or has physical problems with sexual intercourse.

A blood test can confirm the diagnosis by measuring hormone levels and detecting the altered chromosome.

The soft tissues and cavities within the body are illustrated by an ultrasound scan. The lack of female reproductive organs can be indicated by this.

Unborn infants, although there is a family background, are not regularly screened for AIS.

The disorder can be rated from 1 to 7 after checking. Grade 7 refers to CAIS, while grades 1 to 6 indicate that there is PAIS for a child.

The genitals tend to be feminine in grade 7. A individual with grade 1 AIS may have male genitals but is likely to be infertile.

Treatment

Because of their outwardly feminine genitals, children with CAIS are commonly regarded as males, but often parents have to consider whether to raise their child as a male or a female. When the genitals have both male and female traits, this may be complicated.

Hormone therapy can help guide development into a particular gender during puberty. It may even prolong puberty until the infant is old enough to assess which gender is acceptable.

Counseling will also help determine a gender for a child with AIS.

Most PAIS children maintain the sex they were assigned at birth, but some believe that this does not reflect their true identity and want to alter.

Surgery

When the infant was young and a gender had been identified, reconstructive genital surgery was done. It is usually delayed nowadays before the child can tell.

When a woman has testicles, they could be removed by a doctor because they may become cancerous. This is listed as an orchidectomy.

The procedure is typically performed after adolescence, since the testes may transform androgen to estrogen. The hormone that promotes female sexual activity is estrogen.

Waiting to perform an orchidectomy well after puberty helps a girl with AIS to develop a feminine body without hormone therapy.

Orchiopexy may be needed for a person with testicles embedded in the abdomen. Orchiopexy is a surgical technique intended for the release into the scrotum of an undescended testis.

Surgery to lengthen the vagina is another choice. For a person with AIS, this may facilitate sexual intercourse. After puberty, this treatment is usually done, helping the individual to make an informed decision.

Few women prefer to reduce the clitoris surgically and to widen the vaginal opening. This can contribute to a partial clitoral loss of sensitivity.

After finishing puberty, women with complete androgen insensitivity who have their testes removed may undergo hormone therapy.

Supplements of estrogen can avoid signs of menopause, including the onset of osteoporosis. As their Y chromosome carries genes for taller growth, they may also stop a woman from being too tall.

If the testes are removed at a young age, hormone therapy can begin to induce puberty at about 10 or 11 years of age.

To promote such male characteristics, such as the development of facial hair and a deeper voice, boys with partial insensitivity may require androgen supplements.

For both the person with the disorder and their parents, social assistance is often important.

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