Medical Genetics Redux: Yes, Virginia, There are More than Two Genders...

In July of 2012, I wrote my first and only article on working at Medical Genetics at Emory University (back in the early 80's), and considering the trans-hysteria of late, boy does it need an upgrade. 

My job at Emory wasn't especially technical.  It was the lab technicians would take the samples (from amniocentesis or, more often, a buccal smear of the cheek) and distill them down to one little drop that went under the electron microscope.  The next day I’d be handed a blurry 8 1/2 by 11 photograph, full of chromosomes no naked eye could ever, would ever see, transformed into inch-long fuzzy banded crosslets, tumbled and curled and overlaying one another like sleeping puppies. I was the grunt labor, and my job was to cut them out with a a pair of scissors, sort them, and line them up and tape them down to make a karyotype.  

I got to know those chromosomes really well.  Me and my trusty scissors untangled 9s from 4s, 18s from 21s, and set them in neat ordered pairs for the first time in their existence.  At first, like every Other, they all looked alike to me, but time and use and my own fancy gave them personalities.  The first five sets were large and strong and unmistakable -- any flaw in them and there would have been no being to be tested.  6 through 12 were like the dancing men of Sherlock Holmes:  jaunty, poised, often with one foot kicked up in dance or play.  16 through 20 were smaller but just as playful, children learning at their parents’ knees.  13 through 15 were Hopi women, with their looped hair risen above long blankets, or nuns in banded shawls; an elemental female image.  And then the mysterious, smaller shrouded shes, 21 and 22, solid, dark, impenetrable, unpitying, even when you winced with pain, even when you cried as you found a third come to join their pair, or one so damaged that nothing good could come...

The search for sex was a lot more fun.  I found the male in microcosm elusive, mainly because the Y chromosome looks nothing like a Y.  Half the time I thought it was a scrap of something else.  I started a lot of panics until I got it through my head that what looked to me like a tiny, flat-topped, spread-legged 21 was not a trisomic sister of doom, but a Y, a HE.  My only comfort, as I sat with my scissors and a worried look, was that over in the hospital, with the baby right there in front of them, they couldn’t tell either.  Parents panicking, doctors shrugging, nurses whispering, and all waiting for me (!) to find that other damn chromosome and tell them whether it was a girl or a boy.  

BTW, it's been determined that 1 out of every 1,000 babies are born with "indeterminate genitalia." 

1 out of every 5,000 female babies are born without a uterus.  

And sex chromosome aberrations are the most common of all chromosomal aberrations, because they are almost never lethal.  

Here are a few of the more common ones:

Klinefelter syndrome - males inherit one or more extra X chromosomes--their genotype is XXY or more rarely XXXY or XY/XXY mosaic. In severe cases, they have relatively high-pitched voices, asexual to feminine body contours as well as breast enlargement, and comparatively little facial and body hair. 1 in 500 and 1 in 1000 male births. (This makes it one of the most common chromosomal abnormalities.) 

XYY syndrome, a/k/a Jacobs Syndrome - males inherit an extra Y chromosome--their genotype is XYY. As adults, these "super-males" are usually tall (above 6 feet) and generally appear and act normal. However, they produce high levels of testosterone. During adolescence, they often are slender, have severe facial acne, and are poorly coordinated. Legend has it that this can cause strong criminal propensities. 

Triple-X syndrome - Also common:  occurs in women who inherit three X chromosomes--their genotype is XXX or more rarely XXXX or XXXXX. As adults, these "super-females" or "metafemales" as they are sometimes known, generally are an inch or so taller than average with unusually long legs and slender torsos but otherwise appear normal. There is a tendency towards ovarian abnormalities that can lead to premature ovarian failure (early menopause, infertility). 1 in 1,000 female infants are born with this, and it occurs more commonly when the mother is older.

Turner syndrome - occurs when females inherit only one X chromosome--their genotype is X0 (i.e., monosomy X). If they survive to birth, these girls have abnormal growth patterns. And they are born post-menopausal. 1 in 2,000 to 1 in 5,000 female infants are born with this.

45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis - can appear male OR female, and a significant number of individuals show genital abnormalities or intersex characteristics.  (This is probably what most of the old literature was referencing when they used the term "hermaphrodite.")  Rare: 1 in 15,000 live births.

46,XX/46,XY - is a chimeric genetic condition in which one human being has two distinct cell and sex lines. This is caused by two fraternal zygotes being absorbed in utero in one fetus. What will emerge in puberty is anyone's guess.  "The rate of incidence is difficult to determine as the majority of diagnoses go unreported in the literature."

XX gonadal dysgenesis - the baby is born without ovaries. Because of this, it's not diagnosed until puberty fails to develop, and it's unknown how many are born with it.  

XX male syndrome, also known as de la Chapelle syndrome - a rare syndrome where the baby is male, but has two X chromosomes, generally with one of them containing genetic material from the Y chromosome; this gene causes them to develop a male phenotype despite having chromosomes more typical of females.  Rare: occurs in approximately 1 in 20,000 newborn males.

(LINKS ARE HERE & HERE) 

Which brings up the Guevedoces (which literally means "penis at 12"):  

"In a small community in the Dominican Republic, some males are born looking like girls and only grow penises at puberty." Raised as girls - and generally hating it, they become male around 12. How did that happen? A 1970 study showed the following:

"When you are conceived you normally have a pair of X chromosomes if you are to become a girl and a set of XY chromosomes if you are destined to be male. For the first weeks of life in womb you are neither, though in both sexes nipples start to grow.  Then, around eight weeks after conception, the sex hormones kick in. If you're genetically male the Y chromosome instructs your gonads to become testicles and sends testosterone to a structure called the tubercle, where it is converted into a more potent hormone called dihydro-testosterone This in turn transforms the tubercle into a penis. If you're female and you don't make dihydro-testosterone then your tubercle becomes a clitoris.  

When Imperato-McGinley investigated the Guevedoces she discovered the reason they don't have male genitalia when they are born is because they are deficient in an enzyme called 5-alpha-reductase, which normally converts testosterone into dihydro-testosterone... So the boys, despite having an XY chromosome, appear female when they are born. At puberty, like other boys, they get a second surge of testosterone. This time the body does respond and they sprout muscles, testes and a penis."   (LINK)

The condition of 5-alpha-reductase type 2 deficiency (5-ARD) is an inherited disorder and is limited to male genetic. The affected males are usually identified as female in childhood but undergo striking virilization at puberty. While overall incidence for various countries are not established, increased incidence is reported in the Dominican Republic, some highland tribes in New Guinea (where they're 
called kwolu-aatmwol, literally 'a female thing changing into a male thing') Lebanon and Turkey. (LINK)

Now you may wonder what all this has to do with crime. Well, think about it - you're obviously born a girl, raised as a girl, and then you hit puberty and voila! you're male! If that wouldn't call for a charge of witchcraft in medieval times (are we done with those yet?), I don't know what does.

Or someone with 46.XX/46.YY commits a crime - but the DNA tests show a male did it and the DNA sample of the person shows a female? Or vice versa?

Or someone finds out - after marriage - that they're infertile due to genetics and that leads to... fill in the blank yourself. 

I'm sure we can all think of some more.

Meanwhile, Nature is not always "right" (and if you think it is, you've never seen a two-headed calf or a child with cancer or photograph of Joseph Merrick). 

Nature is not always limited to two genders (fish, gastropods, worms...). 

Nature mixes it up a lot (male seahorses carry and give birth to the young; rabbit does can absorb their litters before birth if there's a shortage of food).  

And, whether 1 in 1,000 or 1 in 5,000 or even 1 in 20,000 - with a population of  332 million, that means that an awful lot of Americans are / were born with some sort of sex chromosome disorder.  Personally, I am all for genetic testing of every baby, but that's not going to happen, because of freedom...  Meanwhile, often the only way to treat many of these conditions is genetic testing followed by gender affirming hormone treatments and sometimes surgery.  All of which are currently banned in 20 states and counting...  

And - since it is all too easy to screw up the visual determination of sex at birth (Guevedoces!), and in some cases even a genetic test can't determine it, can we just leave the whole #$%*%&@ bathroom issue alone and let people pee when and where they need to?  

Thanks.

Gender Blender

by Leigh Lundin

An over-hyped Business Insider headline caught my eye:

“	A major newspaper is doing something that could change the English language forever.	”

If you guessed this has something to do with political correctness, two points for you. That newspaper’s new policy I’ll explain below, but first some background.

Two Bits

Working as a software designer, I specialized in operating systems bits & bytes stuff. Most programmers worked on applications– invoicing, payroll, perhaps tracking the speed of an electron. Some records such as personnel files might require a designation of gender. In computer languages that could address the bit level, that assignment required only one ‘bit’, one binary digit.

See, a binary digit represents either of two mutually exclusive states decided by the developer: 1 or 0, on or off, true or false, yes or no, black or white, yin and yang, day or night, male or female. What could be simpler?

bin	dec	sym
00 0 01 1 10 2 11 3

A long-ago story in the industry press brought to light a programmer in Asia who didn’t quite understand the concept of binary and assigned two binary digits, one for male and the other for female. Observers realized two additional possibilities could some day be programmed, hermaphrodite (all bits on) and morphodite (all bits off).

Ranching and farming communities use ‘morphodite’ or its older form ‘morphrodite’ to refer to livestock born without either sexual characteristic, the opposite of hermaphrodite, in which both male and female characteristics appear. One of the cruelest bullying insults is to call someone a ‘morph’, i.e, sexless.

Historically, a sense of sexuality is more deeply important to people than its seeming superficiality suggests. Most given names not merely denote masculinity and femininity, an actual meaning may further signify manly and womanly. Two such examples are Charles and Carla.

The importance of sexual awareness naturally provides a rich vocabulary of ridicule and rejection. We apply the term ‘limp-wristed’ only to a small number of males. We’re not complimentary when we call someone a swish or a dyke, and people have been known to use worse, far worse.

Changing Room

You no doubt heard a hysterical North Carolina put a statute on the books requiring people to use the loo associated with their birth gender. I’m hard pressed to think of a more useless law.

☞ When I was a toddler, my mother took us children into the ladies locker room of the local pool house. A woman fled the scene, aghast to have three- and four-year-olds within view. But other ladies didn’t flee in terror and outrage and back then, it was perfectly legal. Tally: One woman verklempt.

☞ In the 1960s, women attending concerts in Central Park often used men’s rooms when their own became overwhelmed. They needed them. No need to get verklempt.

☞ In the 1970s, feminists took over a few men’s rooms in Manhattan just because they could. To their disappointed, no one got all verklempt.

☞ In the 1980s, I consulted in Europe. Outside the WCs, the janitorial staff didn’t bother with those yellow plastic ‘Piso Mojado’ signs (that don’t mean Mojo peed here), the attendants– male and female– went about their business. Thus in an airport pissoir when a lady swabbed the urinal next to me, I summoned available savoir faire, outwardly blithe to the situation, one that would occur from time to time. There were places we’d both rather visit. No need to get verklempt.

O de Toilette

So to North Carolina that wrote the peculiar legislation: My experience with the Carolina legal system has already made it my least favorite for multiple reasons, but what were you thinking? Who the hell cares?

Apparently a couple of cops (male and female) did: They dragged a woman from a ladies room because she didn’t look feminine enough. Put another way, the cops wanted to force the woman to use the men’s room. (According to Snopes, at least one supposed case was bogus.)

Note that the officers demanded ID, but one of the few civil liberties remaining after the US PATRIOT Acts, except for probable cause, is we don’t have to produce identity papers on demand.

How to Put the Rest in Restroom

I’m as ham-handed and foot-in-mouth as most guys. When it comes to transgender issues vis-à-vis public toilets, I don’t know if I’m insensitive or not when I say “I… don’t… care.” It’s your business, not mine. Each of us carries our own burden without adding to the woes of others. Come in peace, go in peace, what else matters? Unless you're thinking a ‘family values’ senator in a Minneapolis airport futilely cottaging young men.

On the other side of the argument, a guy standing in line at my local WaWa gas station loudly pontificated, “What if some queer goes into the bathroom with your daughter?” He completely missed the irony of his supposition. (And I'm sure he meant restroom instead of bathroom).

Gender Mender

As mentioned in the opening, Business Insider wrote:

A major newspaper is doing something that could change the English language forever.

The story behind the overheated lede is that The San Francisco Examiner (limited to the American language) has adopted a policy that reporters must ask interviewees their ‘preferred pronoun’: he, she, or they.

My ego is sometimes so large that it could be referred to as ‘they’, but sexually, no question. Surely a sensitive interviewer could figure out a non-offensive term on his/her/their own. Embodying this in official policy makes it difficult to deny accusations of overwrought political correctness.

As children, we were taught to say “Yes, ma’am” and “No, sir.” The US military created their own rule: Personnel are addressed as “sir” unless an officer requests the use of “ma’am”.

Since childhood, my brother Glen cultivated waggish weirdness into a modest industry. The smartass may have come up with a solution in grade school. Back then he addressed his teachers: “Yes ma’am, sir.” God love ’im.

Opinions, yes, opinions please.