you are viewing a single comment's thread.

view the rest of the comments →

[–]MarkTwainiac 8 insightful - 1 fun8 insightful - 0 fun9 insightful - 1 fun -  (3 children)

LOAH is late-onset, right? Which is also known as NCAH, or non-classical adrenal hyperplasia, & accounts for the majority of cases of CAH. Whereas the other kind that's present at birth is called "classical CAH"?

Apart from early infancy, do girls & women with either (or any) kind of CAH ever have testosterone in the male range? Or is it high for women, but still in the female range? My impression is that the latter is the case. However, it's hard to find specific numbers. A lot of the research papers I've read just speak of "hyperandrogenism" - or if they do give hormone levels, I've found the numbers & their significance hard to make sense of coz of my own deficiencies in parsing the data. Plus, research papers that do give hormone levels seem always to be of women already being treated, so they don't tell what the levels were upon diagnosis.

Thanks for the info. Sorry for what you've been through. Malpractice & hideous abuses in medicine are far too common, especially in the case of female patients. But glad your CAH got properly diagnosed & treated.

[–]ColoredTwiceIntersex female, medical malpractice victim, lesbian 8 insightful - 1 fun8 insightful - 0 fun9 insightful - 1 fun -  (2 children)

Late-oneset is not CAH at all. I still don't know why it is called like that in English.

CAH is "congenital adrenal hypoplasia" - we are lacking adrenal hormone aldosterone and low production of cortisone because of mutation of one gene. It is often important to know sex of an infant as if not treated - female infant can die or live as disabled. If not treated - body will try to make cortisol but fail and produse adrenal hormones instead. If not treated long we will die due to inability of consuming salts.

LOAH starts appearing late in life - for girls after 15+ years, for boys can be undetected. It is happening because of mutation in same gene but they have enough aldosterone but lack cortisol and lacking other hormone. They live fine without treatment, just have more testosterone. In general it is very similar to PCOS but affects both males and females. You can't call it "intersex", as it is not congenital and may or may not develop in people with that gene mutation. As with CAH it more affecting females than males.

In USSR healthcare they are called completely differently and unrelated. We have different lack of hormones, different mutations, we need different treatment and have different complications. Salt-Wasting CAH women often have "secondary PCOS". It is not PCOS but have similar symptomes - I have one. In USSR practice it is unrelated to PCOS too. PCOS is reason of condition, while secondary PCOS is just symptome.

Salt-wasting CAH is the only "intersex" variant of it. We born with virilized bodies and very big clit. Obviously big clit is just big clit - functions and look like clit, have nothing to do with penis. LOAH and mild-CAH or CAH in males have little or no effect on kids until later in life.

Male kids with SW CAH can be untreated almost to month, while females will die. That's why I was screened if I have ovaries. USSR medicine was both most progressive and most stereotype-leaning. So I got lucky. They easily found my condition and treated me well...but then they found I am lesbian and that was a horror story of them trying to cure it.

Sorry if I am being to messy, I had hard day today.

[–]MarkTwainiac 6 insightful - 1 fun6 insightful - 0 fun7 insightful - 1 fun -  (1 child)

Late-oneset is not CAH at all. I still don't know why it is called like that in English.

Sorry. Not trying to be disrespectful. I'm in the USA, & here all the sources lump these genetic conditions involving the adrenals together. For example, the USA's National Institutes of Health says

CAH refers to a group of genetic disorders that affect the adrenal glands.

And goes on to say that these disorders are caused by different genetic mutations. The NIH says the different forms of CAH manifest in different ways, causing different symptom profiles, but usually result in too little cortisol, too little aldosterone & an excess of androgens.

Classic CAH is more severe than the nonclassic form. It can be life threatening in newborns if it is not diagnosed. Classic CAH can be caused by either 21-hydroxylase or 11-hydroxylase deficiency.

Nonclassic CAH is sometimes called late-onset CAH. It is a milder form of the disorder that usually is diagnosed in late childhood or early adolescence. Sometimes, people have nonclassic CAH and never know it. This form of CAH is almost always caused by 21-hydroxylase deficiency.

https://www.nichd.nih.gov/health/topics/cah/conditioninfo

[–]ColoredTwiceIntersex female, medical malpractice victim, lesbian 6 insightful - 1 fun6 insightful - 0 fun7 insightful - 1 fun -  (0 children)

Yeah, I know this. It is just different health issues, with different treatment, different symptomes, different comllications and different cause. It just two different adrenal deficiencies. It is like calling all heart diseases as congenital heart defects. Like I have 21-h mutation, but it is different one that have people with LOAH - as they have 21-h mutated too, but in different way than people with CAH. And main lacking hormone is different - we have some cortisol but have no aldosterone. While people with LOAH have no corrisol but some (or full) aldosterone. I am taking those hormones (and currently contraceptives due to secondary PCOS) whole my life.

LOAH is not congenital, as it is not visible at birth and their mutation may or may not cause LOAH. People with LOAH born completely normal male and female looking. That's why it is stupid to call it intersex condition - or if add LOAH - then PCOS should be added too, as PCOS has genetic pre-disposition too.

All 40 intersex conditions are happening in around 0.18% of population, so each one is around 0.004% on average. While LOAH is diagnosed in 1.55% of population. So it is like elephant in the room.