Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory ...

Steven's Condition Made Him Sterile. Why Women Aren't The Only Ones Affected By Infertility

Insight returns for a new season Tuesday 5 March at 8:30pm with the episode Baby Drought. Watch it on SBS or on Being told you might never have children when you desperately want to is a heartbreaking scenario for those affected by infertility. For Steven and Sarah Gillam, they can still remember how distressing the moment was when they found out that Steven was sterile. "We just broke down crying," Sarah told Insight. "We were a young couple, we thought 'why us'?" After some further testing, Steven was diagnosed with Klinefelter Syndrome, a genetic condition that affects one in 500 men in Australia. It occurs in men who have an additional X chromosome, leading to lower levels of testosterone which affects sperm production. "I felt like I failed a bit," Steven told Insight.

Doctors offered the couple two solutions — using donor sperm to conceive or having Steven undergo a testicular biopsy to investigate if he had any sperm that the couple could use to pursue IVF.

Sarah and Steven were determined to have a child. Source: SBS

"If there was any possibility that Steven could father biologically, we wanted to uncover that," Sarah said.

During the procedure, doctors found 11 sperm cells. But time was of the essence — the day before, Sarah had undergone her own procedure to harvest her eggs. Doctors extracted 12 eggs and the couples' chance to have their own children finally seemed within reach.

Fertility specialist Dr Bill Ledger says men tend to only become aware of poor sperm health and contributing infertility conditions once it's too late. Source: SBS

The cost of conceiving But as with any IVF process, there is no guarantee it will work, even after investing thousands of dollars. "We were at a crossroads — do we have a house and some more luxuries, or do we go down the path of IVF and potentially have children?" Sarah told Insight. "It's a real gamble, and 'til this day we are still renting." Dr Bill Ledger is a fertility specialist at the Royal Hospital for Women in Sydney. Although he is not the Gillam's doctor, in his 30 years' experience he has seen many patients with infertility issues. To determine infertility in men, doctors look for three things — sperm count, the shape of the sperm and its motility (ability to move).

"For half of the men we see with poor sperm, there's no obvious cause," Ledger said. "And probably, they've been that way since they were born, but they only find out when they want to have children."

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Infertility is on the rise According to the World Health Organization, one in six people globally will be affected by infertility. Many experts also believe there's been a decline in overall sperm quality over the past 30 years.

"It's debated, but most people do see a decline in sperm quality because of male health in general," Ledger told Insight. "More obesity, diabetes, more steroid use and medications to avoid going bald seem to have an effect."

But there is one known fertility hindrance that both men and women are experiencing. "The most important in Australia, is that people are waiting until later in life, to become a mum or a dad," he said. Women have long been aware of their biological clocks. Most women will run out of good-quality eggs in their late 30s and early 40s. But many men are unaware that they too have a biological clock, with sperm quality declining at 45, Ledger says the impact can lead to a number of complications in children born to older fathers.

"Women over the age of 35 are at an increased risk of things like miscarriage, Down syndrome," Ledger told Insight. "But if the dad is older, there's an increased risk of miscarriage in the couples, small birth weight babies, cancers, but also autism spectrum disorder is more common."

Tenille and Jamie say they've never felt the urge to have children. Source: SBS

Australia is facing a baby drought Australia and many other developed nations like the US, Italy and Japan are in the midst of a baby drought. This decline in birth rates is happening for a number of reasons that range from cost-of-living, to an increase in infertility, to worries about the climate crisis and global affairs. Women are also more empowered to make decisions about their own lives and bodies and some are choosing not to have children at all. Tenille Williams says she has never heard the ticking of her biological clock. From an early age she knew children were not something she wanted. When she met her husband Jamie in high school, she was relieved to find out they were on the same page. "I've never had the urge for babies or children, I've only had the urge to get puppies or kittens,"Tenille told Insight. The couple have instead chosen to care for a number of very beloved pets at their home in Bundaberg, Queensland. "When I really thought about it properly, I realized that there are a lot more cons to it than there were pros," Jamie said. "And it wasn't really worth it to me." For Tenille and Jamie, having children would take away their freedom to be spontaneous, their time to dedicate to their careers and the joy they find in spending time together.

"But I think, most importantly, is that we simply don't want to and that is a valid choice that doesn't need a lot of justification," Tenille said.

The Gillam family now have two healthy children after a long and expensive battle with infertility. Source: SBS

'Don't wait until it's too late' For Sarah and Steven, not having children was not something they were ready to imagine. The couple stood at their crossroads and took a leap of faith into the IVF process. After harvesting Sarah's 12 eggs and Steven's 11 sperm cells, the couple welcomed a daughter into their family. A few years later they used their last viable embryo and baby Charlie was born. The process took 10 years and cost about $150,000 but Sarah and Steven couldn't be more pleased with the outcome. The couple are grateful that they chose to pursue IVF when they did, knowing how time-critical the fertility process can be.

"Our message, is if you do want to have children, don't wait to find out if you've got fertility issues because you are against the clock," Sarah said.

The Intersex Spectrum

  The Intersex Spectrumby Carl Gold

Physical gender is not always just a matter of XX or XY, girl or boy. In approximately one out of every 100 births, seemingly tiny errors occur during the various stages of fetal sex differentiation, causing a baby's body to develop abnormally. Problems in the formation of chromosomes, gonads, or external genitals can lead to a range of intersex conditions. The most common and well-researched of these conditions are explained below. For information on intersex conditions not mentioned here, see http://www.Hopkinsmedicine.Org/pediatricendocrinology/.

Congenital Adrenal Hyperplasia (CAH)—One in 13,000 birthsTwo hormones are critical in normal sex differentiation. The testes of normal 46,XY males secrete both Müllerian Inhibiting Substance (also known as MIS or antimüllerian hormone) and masculinizing androgenic hormones, while the ovaries of a normal 46,XX female secrete neither. In CAH, the absence of a critical enzyme allows a 46,XX fetus to produce androgens, resulting in ambiguous external genitals. A CAH individual may have an oversized clitoris and fused labia.

Testosterone Biosynthetic Defects—One in 13,000 birthsIn a condition related to CAH, some 46,XY individuals do not have the properly functioning enzymes needed to convert cholesterol to testosterone. When such enzymes prove completely incapable of creating testosterone, the genitals appear female; when the enzymes function at a low level, ambiguous genitals form.

Androgen Insensitivity Syndrome (AIS)—One in 13,000 birthsAIS affects the section of the 46,XY population that is physically unable to react to androgens. In Complete AIS (CAIS), testes exist in the abdomen while the external genitals are female. The Wolffian, or male, duct structures do not form because of the lack of response to androgens. The Müllerian, or female, duct structures do not evolve because the testes still release MIS. At puberty, CAIS individuals grow breasts but do not menstruate. The testes are sometimes removed from the abdomen because they may develop cancer.

Partial AIS (PAIS) is marked by a limited response to androgens. The external genitals are ambiguous and duct development is incomplete. Depending on the selection of hormone treatment, PAIS individuals may exhibit partial male or partial female development at puberty.

Gonadal Dysgenesis—One in 150,000 birthsIn gonadal dysgenesis, the androgen receptors are intact while the androgen-secreting testes are not. Complete Gonadal Dysgenesis, in which neither androgens nor MIS are produced, yields female genitals and Müllerian duct formation, despite a genetic profile suggesting maleness. With estrogen treatment, female puberty can be achieved. Partial Gonadal Dysgenesis results in ambiguous genitals and duct development, as some androgens and MIS are produced. Like PAIS, the choice of hormone treatments determines the physical gender of the adult with Partial Gonadal Dysgenesis.

5-Alpha Reductase Deficiency—No estimate available5-Alpha Reductase is the enzyme that facilitates the conversion of testosterone to another hormone, dihydrotestosterone (DHT). When a genetic male is deficient in 5-Alpha Reductase, the powerful DHT hormone is not produced. While testes and Wolffian ducts do exist, the male external genitals are similar in size to those of a normal female. If left intact, an adult 5-Alpha Reductase Deficiency individual will appear generally male but with small genitals and no facial hair.

Micropenis—No estimate availableIn order to create a proper penis in a 46,XY individual, androgens must be secreted twice during fetal life. First, the androgens help to shape the basic structures into a penis and scrotum; later, the androgens enlarge the penis. A micropenis is the result of normal androgen secretion in the first stage and little or no androgen secretion in the second. The penis is normal in shape and function, but extremely small in size. While earlier surgeons often converted micropenises to female genitals, today micropenises are often left intact. Individuals with intact micropenises are often given testosterone to stimulate masculinizing puberty.

Klinefelter Syndrome—One in 1,000 birthsSometimes chromosomes join but do not form standard 46,XX or 46,XY combinations. Individuals with Klinefelter Syndrome are genetically 47,XXY and live as men. Small penis and testes, low androgen secretion, and possible female breast development are characteristics of this syndrome.

Turner Syndrome—No estimate availableLike Klinefelter Syndrome, Turner Syndrome is marked by an abnormal karyotype, 45,XO. While Turner women have female external genitals, the individuals lack properly formed ovaries. Without estrogen treatment, no breast growth occurs. Other possible features of Turner Syndrome include short stature, webbing of the neck, and misshapen internal organs.

Timing Defect—No estimate availableIf all of the proper stages of normal male sex differentiation occur, but the timing is incorrect by just days, errors may arise. The occasional outcome in a 46,XY individual with this timing defect is ambiguous external genitals.

Note: The information above was adapted from "Syndromes of Abnormal Sex Differentiation," written by physicians at The Johns Hopkins Children's Center in Baltimore, Maryland. The statistics on frequency were obtained from the Intersex Society of North America (www.Isna.Org).

Carl Gold is a former intern at NOVA Online.

Photos: WGBH/NOVA

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