A young girl suddenly grew a beard
this is what was happening in her ovaries
"KT" is a seventeen year old girl
presenting to the emergency room
with nocturnal somnambulation, sleep apnea,
and rapid onset Hirsutism
she tells the admitting nurse that she had gained 50 pounds
over the last 3 months
and was in emotional distress as she suddenly grew
thick facial hair overnight
you see, "KT" was an adopted American girl
her birth mother was uneducated, homeless, and diabetic
but her adoptive parents offered
a happy childhood full of opportunity
about 6 years ago when "KT" was 11
her parents noticed that she was gaining more weight than the other kids
"she's just a growing girl," they thought
the following year at age 12, "KT" experienced Menarche, or her first period
the event was very normal for a girl that age
but subsequent menstrual cycles became irregular, erratic
"just some growing pains," her parents thought
earlier in the year
"KT's" siblings noticed that she was sleep walking
episodes would involve going into their refrigerator and eating large amounts of food
at first they thought she was joking but then quickly realized
that she couldn't recall any of the nighttime engorgement
physically "KT" was unhealthy
at physical examination, she presented with
Acanthosis Nigricans
Acantha in ancient greek referring to spines
or in this case the stratus Spinosum layer of the skin
Osis meaning disease of
and Nigricans referring to a blackening
her skin had velvety gray patches below her neck and axila
Sindicating insulin resistance in type 2 diabetes
similarly she had elevated
Serum Aminotransferase
Serum referring to the amber colored liquid that separates out
when blood coagulates
and Aminotransferase being an important liver enzyme
elevations of this in a teenager with diagnostic
exclusion of both hepatitis and Wilson's disease,
which is a genetic disorder leading to the accumulation of copper in the body
indicates that "KT" has
nonalcoholic fatty liver disease
all of this was combined with class 3 obesity as she was 5 foot 4 inches tall
and weighed 306 pounds
as well as a self reported menstruation count of 2
in the past year, the physical problem of "KT" are obvious
but the underlying causes are not
sleep apnea was first observed at age 13
the disturbances in sleep
she suffered over the years began to negatively impact her life
as psychiatric evaluation found her to suffer from
mild depression and low motivation
adolescent sleep derangements are detrimental
as the brain is still developing and growing at this age
recent overnight polysomnographs show
worsening intermitent oxygen desaturation
indicating airway obstruction and sleep disruption
consistent with a sudden weight gain of 50 pounds over 3 months
but something's wrong
did she gain 50 pounds in 3 months because of
disturbances in her sleep patterns?
or did she develop disturbances in her sleep patterns
because she gained 50 pounds in 3 months
a blood test reveals that
"KT's" serum total testosterone level
is 120 nanograms per deciliter
two times the upper limit of normal in a woman
and just under half the lower limit of normal for an adult man
we can conclude here
that she's suffering from Hyperandrogenemia
Hyper meaning high
Adrogen referring to male hormones mainly testosterone
and emia meaning presence in blood
high male hormone presence in blood
but "KT" is a girl
if male hormones are made by male parts
but "KT" is a girl and has female parts
then where are those male hormones coming from?
how is it possible that she has high male hormone presence in blood?
well,
theres a bit of basic human physiology to be known here
men and women produce both testosterone and estrogen
it's the concentration that makes the distinction
men have 10 to 20 times more testosterone in their body
than women, and women have more estrogen than men
estrogen refers to a grouping of hormones
the most common being, Estradiol
in humans, testosterone is an obligated
intermediate in the biosynthesis of Estradiol
meaning that if the body's making estrogen then
it has done so in part because it has made testosterone
in some sense
testosterone is made first
and because it promotes the production of estrogen
women must produce testosterone, but men produce estrogen
really only because of testosterone
these hormones determine physical
masculine and feminine characteristics
a beard is normal for a 30 year old man, but abnormal for a 17 year old girl
meaning in "KT's" case, it's a serious sign
of an underlying Edocrinopathy
a disease centered on hormones
androgens affect ventilatory control and increase visceral fat
so obstructed sleep apnea
like in "KT's" case is typically more common in in boys
after puberty when testosterone levels are high
but it's also common for women who have an ovary syndrome
meaning that "KT's" weight and sleep disturbances
are not caused by one another, but are caused
by her Hyperandrogenemia
in normal functioning women
25% of all functioning testosterone produced
is from the ovaries
another 50% is created through peripheral conversion of Androstenedione
the precursor hormone of both estrogen and testosterone
which is produced by the ovaries
peripheral, meaning that the conversion happens in
the liver, skin, and fat tissue
the idea of a precursor hormone is important to note
because it indicates that both testosterone and estrogen
are formed from this same common pathway deriving from cholesterol
estrogen is produced downstream
meaning that testosterone, for the most part, comes first
and women have to make testosterone
disturbing the equilibrium of this state such as adding more testosterone
through anabolic steroid abuse
increases estrogen presence in blood
causing male athlete steroid abusers to have
gynecomastia without the use of anti-aromatase
inside the ovaries
excess testosterone will signal a stop to
androstenedione production
so that less testosterone and estrogen are released into the blood
this negative feedback
explains why hormones fluctuate from day to day
and from week to week
but if "KT's" testosterone levels are high
then why is her body producing more of it?
negative feedback is supposed to suppress production
when levels are high, right?
well, let's go back to the source of testosterone production in women
the ovaries account for only 25%
of all androgen produced in the body
and remember that 50% comes from
the peripheral conversion of androstenedione in the
liver, skin, and fat tissue
because "KT" is 17 she's still in puberty so maybe her liver will
get a little bigger, but that's not likely and she also has
nonalcoholic fatty liver disease so its probably not going to
make more testosterone
but how about her skin? well she's gaining weight faster
than her skin can expand explaining her
lower abdominal striae, so she's not really growing more skin right now
so that's not a possible source of more testosterone
but how about the fat tissue?
"KT" just gained 50 pounds over the last 3 months
and with confirmation that she's type 2 diabetic
then by definition it means she has hyperinsulinemia
high insulin presence in blood
and insulin is a powerful stimulus
for the fat tissue
to produce more testosterone through
peripheral conversion of Androstenedione
hyperinsulinemia also increases ovarian steroid oogenisis too
meaning that the weight that she gained perpetuated
her Hyperandrogenism caused her irregular menstruation
leading to Anovulation
and provided a condition sufficient for her to grow
course facial hair and increase her
chances of infertility and endometrial cancer
into adulthood
pelvic ultrasound finds that "KT" has Bilateral Sclerocystic ovaries
slcero meaning hardened
cystic referring to cysts
which is an abnormal sac containing fluid
and bilateral meaning on both sides her ovaries are covered
with numerous hardened cysts
multiple follicles fail to ovulate, so they accumulate in number
and this morphology confirms that "KT"
has Polycystic Ovary Syndrome
the abnormal steroid oogenisis fed into her obesity,
sleep disturbance, and amenorrhea
subsequently the obesity encouraged her hormone
imbalance by feeding forward into the mechanism
of testosterone production and gave her
erratic menstrual cycles and ovulation and hirsutism
polycystic ovary syndrome
is the most common Endocrinopathy documented
in women all around the world
and its first report in human history goes back to
Hypocrates who wrote in 400 B.C.
about women whose menstruation is less than 3 days
with a masculine appearance yet
they are not concerned about bearing children nor do they become pregnant
the Romans centuries later
in 100 A.D. noted that there was a natural absence of
menstruation in persons whose bodies are of
masculine type and those women
who are rather robust like mannish and sterile women
modern understanding of PCOS dates back to
just 1935 where 7 women presented with
amenorrhea, hirsutism, obesity, and
polycystic ovaries
by 1970, reasoning determined
that excess testosterone through an inappropriate secretion of
gonadotropin hormones was the main culprit
and in 1986
a cohort of 19 people who transitioned from
female to male in this lifetime
were treated with exogenous testosterone and 17 of them
developed enlarged polycystic ovaries
by 1990 the diagnostic criteria
was developed which enabled women with the syndrome
of anovulation, hyperandrogenism, and
polycystic ovaries to be recognized and treated through
classification and diagnosis
PCOS is a syndrome meaning that it's a group of
symptoms that generally occur together
the keyword being generally
polycystic ovaries can be found in women who aren't obese, but
still have hyperandrogenemia
some others may be obese have anovulation and are hirsute
but don't have actual polycystic ovaries
and diagnostic criteria would still qualify
but not confirm them with PCOS
this means that diagnosis in adolescence
like "KT" should be taken with care
teenage girls can typically have times of anovulation
this is a time when menstruation is irregular and erratic
which means increased testosterone levels leading to temporary development
of acne, hirsutism, and weight gain
but because this is transient in occurrence
and can be common, a diagnosis if PCOS
cannot be made solely on those grounds
confirmation of a diagnosis of PCOS
in an adolescent girl
cannot be had without further evaluation
because it's typically a diagnosis of exclusion
meaning many other hyperandrogenic disorders need to be ruled out first
the adrenal glands, which make adrenaline and
sit on top of the kidneys, makes the remaining
25% of testosterone in women so the
adolescent female patient may have
congenital adrenal hyperplasia, a genetically linked
overgrowth of the adrenal glands which can overproduce androgens
ovarian tumors can grow at
adolescence and they too can secrete inappropriate
amounts of testosterone
thyroid disorders, insulin resistance, kushing's disease, and
even accromegaly, which is an excess of growth hormone
caused by pituitary tumor
that can take 10 to 15 years to diagnose
all have symptoms that can mimic polycystic ovary syndrome
and they should be ruled out
before diagnosis can be confirmed
for "KT" metformin is
initiated for her diabetes with a regimen of exercise
beginning at 30 minutes for 3 days a week with a personal trainer
her sleep apnea is treated with a mask and
positive pressure, but as up to 20% of patients
are typically noncompliant with the treatment
it was used with limited success
if she has excess testosterone in her blood
the preferred treatment modality for her PCOS is
estrogen combined with progestin
combination oral contraceptives will promote menstrual regularity and
by equilibrium reduce ovarian testosterone production
thus reducing hirsutism and acne
metformin will suppress liver glucose production
reducing its presence in blood thereby
reducing insulin presence and mitigating
ovarian steroid oogenisis while modestly slowing
peripheral conversion of androstenedione to testosterone
physician followup is needed with combination of oral contraceptives
as they are associated with a fourfold increase
in incidents of venous thromboembolism
which are large blood clots that can develop silently
and once large enough
can break off dislodge into the lungs and cause a pulmonary embolism
and sudden death
ethinyl estradiol dosages can increase the risk of stroke and heart attack
by up to twofold without proper monitoring
the benefits of this treatment though outweigh its risks
we are trading a decrease in chance of infertility,
decreasing risk of endometrial cancer,
and alleviation of hirsutism in androgenic presentation
with increase risk of cardiovascular adverse events
"KT" is a patient that my colleagues saw in the
Illinois medical district in March of 2009
most of these case reports in video are patients that I or my colleagues
have seen and while it's impossible for me to know
the entire backstory for each patient
the videos are written, recorded and edited solely by me
and fact checked by my colleagues all across the United States
who practice and research in the topic of each case
video making or cinematography and story writing are
things that I've learned on my own and Skillshare
helped me learn those basics and they also helped sponsor this video
Skillshare is an online learning community with 20,000 classes from business to leadership and design
I try to learn something new
every day and apply those principle to my funtime hobby
like making videos and Skillshare helps me do that
the annual subscription to Skillshare is less than 10 dollars a month
and the first 500 people to sign up at the link in the description is
will get their first 2 months free risk free
with adherrance to treatment, strong family support, and a caring medical team
"KT" was able to make a recovery
was she able to have children later in life?
well, thats a part of the story she's still writing
thank you so much for watching, take care of yourself
and be well
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