Friday, 29 October 2010

Under Reported

From Reddit:

Reddit, your opinion on what a man-turned-woman (naturally) should do. : self
Nearly two years ago, my father was diagnosed with a rare genetic condition - what it is exactly, doctors are not sure of, possibly a mutation of Klinefelter syndrome - in which his endocrine system started producing more estrogen than testosterone. This resulted in a massive reversal of his gender - he now has softer and smoother skin, actual breasts, curvy hips, the whole nine yards. This was not something he willing underwent - it entirely occurred naturally and without warning....

I've always suspected my unusual syndrome is under-reported.


Jennifer said...

That's interesting that they should call it a variation of Klinefelter Syndrome.

I don't have anything happening that's as dramatic as your story or his (hers?), but I have had irregular development since puberty, somewhere between male and female, and anosmia.

And I had a female gender identity the whole time.

I'll have to keep up with this. Sad that it's breaking up a family and causing so much grief. I really feel for the poster.

Zoe Brain said...

Hi Jennifer

Have you been checked for Kallmann's syndrome? The combination of Anosmia and such irregular development are dead giveaways for that.

The Wiki entry is pretty accurate, if simplistic.

Kallmann syndrome's characteristics:

* Hypogonadotropic hypogonadism (a lack of the pituitary hormones LH and FSH)
* Congenital (present from birth) anosmia (complete inability to smell) or hyposmia (decreased ability to smell)
* Normal stature

It can occasionally be associated with optic problems, such as colour blindness or optic atrophy, nerve deafness, cleft palate, cryptorchidism, renal agenesis, and mirror movement disorder. However, it is not clear how, if at all, these other problems have the same cause as the hypogonadism and anosmia.

Males present with delayed puberty and may have micropenis (although congenital micropenis is not present in most male KS cases).

Females present with delayed puberty (i.e., primary amenorrhea) and lack of secondary sex characteristics, such as breast development.

A fraction of cases may present with post-pubertal onset, which results in a phenotypically normal penis in men with subsequent testicular atrophy and loss of some secondary sex traits. These men generally present with sexual impairment and low libido. In women, late-onset Kallmann Syndrome can result in secondary amenorrhea. Anosmia may or may not be present in these individuals.


The diagnosis is often one of exclusion found during the workup of delayed puberty. The presence of anosmia with delayed puberty should suggest Kallmann syndrome.


Under normal conditions, GnRH travels from the hypothalamus to the pituitary gland via the hypophyseal portal system, where it triggers production and release of gonadotropins (LH and FSH) from the gonadotropes. When GnRH is low, the pituitary does not create the normal amount of gonadotropins. The gonadotropins normally increase the production of gonadal steroids; so, when they are low, these steroids will be low as well.

In Kallmann syndrome, the GnRH neurons do not migrate properly from the olfactory placode to the hypothalamus during development. The olfactory bulbs also fail to form or have hypoplasia, leading to anosmia or hyposmia.

If you haven't seen an Endo, it might be an idea to do so. LH and FSH levels are easy to check.

I am not medically trained or licensed, and this is not medical advice. It is advice to seek medical advice from trained and qualified medical specialists.

Jennifer said...

We've discussed it previously on email, I'm definitely a variant of kallmann syndrome.