Monday, 28 July 2008

17BHDD, 5ARD, and CAIS Summarised

From 17β-Hydroxysteroid dehydrogenase-3 deficiency: A rare endocrine cause of male-to-female sex reversal by Silvano Bertelloni; M. Cristina Maggio; Giovanni Federico; Giampiero Baroncelli; Olaf Hiort. in Gynecological Endocrinology, Volume 22, Issue 9 September 2006 , pages 488 - 494.

Table III. Main clinical findings of 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency compared with those of 5α-reductase deficiency and complete androgen insensitivity syndrome (cAIS).
17β-HSD3 deficiency 5α-Reductase deficiency cAIS
Δ4-A:   Δ4-androstenedione;
T:   testosterone;
DHT:   dihydrotestosterone;
N:   normal;
↑:   increased;
↓:  decreased.
Eponymus 17-Ketosteroid reductase deficiency Pseudovaginal perineoscrotal hypoplasia Testicular feminization syndrome
Karyotype 46,XY 46,XY 46,XY
Inhneritance Autosomal recessive Autosomal recessive X-linked recessive
External phenotype Female or ambiguous (rare) Ambiguous or female Female
blind-ending vagina Present (80% of patients) Present (50% of patients) Present (100% of patients)
Internal phenotype Ambiguous Ambiguous Ambiguous
Wolffian structures Male Male Absent
prostate Absent Absent or hypoplasic Absent
Mullerian structures Absent Absent Absent or rudimental (∼30% of patients)
Testes Extra-abdominal (80-90%) Extra-abdominal (100%) Intra-abdominal (70% of patients)
Hormone profile Δ4-A ↑; T ↓, T/Δ4-A ↓, T/DHT N, estrogens N or ↓ Δ4-A N; T N or ↑, DHT ↓, T/DHT ↑, T/Δ4-A N, estrogens N Δ4-A N, T N or ↑, T/Δ4-A N, T/DHT N or ↓, estrogens ↑
Gender assignment at birth Mainly female Female or male Female
Puberty VirilizationVirlilization Feminization
breast development Variable None Normal female
androgen hair Normal male Normal male Absent or scanty
Gender role change Present (30-50% of patients) Present (∼75% of patients) Not present

That last line should tell us something. The difference between 17BHDD and 5ARD is significant, even though the symptoms are so very similar. That should tell us something too.

We have many pieces to the puzzle. There are still many gaps though. Until we can settle the timing of what happens during neurological development in the womb, we have no idea why these differences happen. Given that children in all three categories (with the exception of some only mildly feminised by 5ARD) have the same sociological upbringing, it appears the "nature vs nurture" question is firmly on the side of "nature" here. It's certain though that we don't know the mechanisms.

It's also certain that very many of those who are against basic human rights for the "gender variant" can't, or won't, believe that medical conditions like this can exist. It's against their religion, I suppose.


Anonymous said...

More like it's against their common sense and basic biology classes. They tell us the rules, they don't tell us the exceptions. If you come up with an exception, you must be trying toi get something.

Homosexual activity IS against their religion, if they're traditional Christians and assuming the relevant scriptures have been accurately translated.

Zoe Brain said...

I concur, and your caveat over scriptural translation is apt. FWIW I think they have been translated accurately, for the most part. I could be wrong though.

My problem is that "allowing women dominion over men" is also clearly against their religion. As is the abolition of slavery, and many other things which are as scripturally sound as homophobia, yet ignored because they're morally unsound.

They get to pick and choose which bits to ignore. Well, most do, and I can't fault that.

Some of the more unpleasant groups still want the death penalty for kids who mouth off at their parents, and to abolish women's sufferage etc. A stop to all space programs, as the Earth is flat too.

Read any Dominionist literature recently? Scary stuff.

Fortunately, few take it that far. And for every one of those, there are ten who genuinely "get" His message, even though they may have minor doctrinal differences.

With goodwill, nothing is impossible, and to convince, all we have to do is teach the facts, something schools don't do, not completely. Those of goodwill may regrettably, and often regretfully, base morally questionable acts on their beliefs, but they are reachable through their conscience.

Without goodwill, be they ever so atheist and "progressive", or ever so "Christian" and pious, nothing is possible, as they will use their beliefs to justify their hatred.

Anonymous said...

I'd have to take issue on the abolition of slavery; consistently applied, Christians are required to abolish slavery as and when it is practicable to do so. It's not a matter of just one verse "what sais so", so people miss it.

On topic: I think that a lot of things get conflated, deliberately or not, and mess up the discussion... but in essence, gender is assigned by genetics, and our genes are flawed (being part of the "fallen" world), therefor gender can *theologically* be mis-assigned or partially assigned.... just like legs can!

Gender is very, very important to our culture right back to pre-christian times. Many people believe that gender exists in the spiritual realm (that a soul is gendered), whether this is properly considered Christian or Pagan I don't know. In any case, the idea of something so central to the self being messed up by random chance is just too scary for most people to want to think about it.

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