Steersman wrote:Another comment of mine on Sinmantyx in response to
Hornbeck who - dickhead and idiot that he is - seems to object to as he's deleted it:
Steersman wrote:HJ Hornbeck:
… clear and unambiguous. (Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development (1))
Interesting – and of some use so I’ll concede there are “anomalous†cases. But since you seem unwilling or unable to face facts, let me put it to you as baldly as another question was put to Benson: “Do think it is true that some 49% of the
human population have an X-Y karyotype, and the ability to produce the gametes (2) known as sperm, yes or no?â€
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1) “_http://
www.ncbi.nlm.nih.gov/pmc/articles/PMC2190741/â€;
2) “_https://en.wikipedia.org/wiki/Gameteâ€;
But Kirbmarc, do take a look at that NCBI article as
it suggests a "sex", depending on your definition, other than the standard two - i.e., those with an X-Y karyotype coupled with the ability to produce sperm, and those with an X-X karyotype coupled with the ability to produce ova - which are necessary to produce a viable zygote.
I'm not seeing it that way. (I haven't followed your link to see what HJ might have said, & don't plan to.) The paper describes a very interesting & unique situation, a female-appearing, regularly-menstruating, twice-pregnant woman with normal internal female genitalia on laparoscopy, who turned out to be 46,XY/45,X when karyotyped after her daughter didn't fully develop 2ndary sex characteristics & was found to have 46,XY gonadal dysgenesis. But the cause of their situation, and that of other maternal relatives, is
assumed by the study's authors - and reasonably so - to necessarily reflect a
genetic mutation. In their case (the evaluation is detailed in the paper) it's an as-yet unidentified mutation, likely X-linked, possibly one "that predisposes to chromosomal mosaicism and mixed gonadal dysgenesis" (from one of the quoted sections below) - and one which, if identified, might help elucidate the complex mechanisms of sex development (meaning, biological sex).
Repeating your full text link
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2190741/
and here are some chunks from the paper, all bolding added by me:
2nd paragraph of Introduction:
Herein we report the extraordinary case of a fertile woman with normal ovaries and a predominantly 46,XY ovarian karyotype, who gave birth to a 46,XY female with complete gonadal dysgenesis. The karyotype of this phenotypically normal mother was 46,XY in blood, 80% 46,XY and 20% 45,X in cultured skin fibroblasts, and 93% 46,XY, 6% 45,X, and <1% 46,XX in the ovary. The family pedigree on the mother’s side was notable for the presence of seven individuals over four generations with either sexual ambiguity, infertility, or failure to menstruate, including one individual with documented 45,X/45,XY mixed gonadal dysgenesis. Both the mother and the 46,XY daughter were screened for mutations in a number of genes known to be involved in mammalian testis determination. In all genes screened (see below), the open reading frame was found to be normal. This suggests that a mutation in a novel sex-determination gene or a gene that predisposes to chromosomal mosaicism may be responsible for the phenotype in this family.
Description of Patient #2 (mother):
This 52-yr-old phenotypically normal woman underwent normal pubertal development and reached spontaneous menarche at age 11 yr. She had a history of two pregnancies, the first of which resulted in a spontaneous miscarriage. Her second pregnancy was uneventful, except that her daughter was delivered by cesarean section due to a recent hip fracture in the mother from a motor vehicle accident. She breastfed the daughter for 1 yr. She continued to have regular menses until menopause at age 49, after which time she received hormone replacement therapy for 2 yr.
Physical examination revealed a feminine-appearing woman with a normal body habitus (Fig. 1​1).). ...The karyotype in peripheral blood was 46,XY (20 cells). ...
The mother agreed to undergo gonadectomy because of the increased risk of gonadoblastoma in gonads containing a Y chromosome. The internal structures were those of a normal woman (see Fig. 1​1).). No Wolffian remnants were seen. The uterus and fallopian tubes were left intact, and the ovaries were removed.
Pathology revealed a histologically unremarkable right ovary with several corpora albicans, suggestive of previous ovulation. The left ovary contained fibromuscular tissue with ovarian hilar cells, and an immunohistochemical stain for inhibin showed a focus of positive cells confirming the presence of ovarian stromal elements.
Family history:
There is a remarkable family history of ambiguous genitalia and infertility affecting both phenotypic men and women across four generations in the mother’s family (Fig. 2​2).). The daughter inherited her Y chromosome from the father (see below), thereby excluding involvement of the Y chromosome in the development of sex reversal in this family. The pedigree is strongly suggestive of X-linked inheritance of the phenotype, although autosomal dominant sex-limited transmission cannot be excluded.
From the Discussion section:
Although there have been reports of fertility in 46,XX/46,XY true hermaphrodites with ovotestes (13) and in patients with mosaic and nonmosaic Turner syndrome (21), we believe this to be the first report of fertility in a woman with a predominantly 46,XY karyotype in the ovary. The fact that this mother had normal functioning ovaries, menstruated regularly, and achieved unassisted pregnancy twice is remarkable. Additionally, her hormonal findings are compatible with a normal menopausal woman. Of course, it should be noted that the incidence of normal fertile females who have a 46,XY karyotype is not known because it is not routine to check the karyotype in fertile women. Although the demonstration of 5.9% 45,X cells in the ovary is difficult to interpret, most cytogeneticists agree that 5% does not indicate mosaicism. The finding of 20% 45,X cells in fibroblasts cultured from skin indicates that she is a 46,XY/45,X mosaic, at least in the skin. Individuals with a karyotype of 46,XY/45,X usually have ambiguous genitalia or a male phenotype, although occasionally they can have a Turner female phenotype (21). Our case is unique, however, because the presence of bilateral ovaries or unassisted pregnancy has not previously been reported in this form of mosaicism. Moreover, ovarian cells were predominately 46,XY; the small percentage of X (5.9%) out of 1000 cells counted in the gonad might be due to artifact or technical error. Pregnancy is believed to occur in about 2% of women with Turner syndrome (14). Although fertility did occur in a woman with mosaicism of an isodicentric Y chromosome (22), we believe that our case of fertility in a female with a predominantly 46,XY karyotype in the ovary is unprecedented. ...
The fact that this mother gave birth to a 46,XY female is even more remarkable. However, the daughter’s clinical picture, unlike that of her mother, is more typical of 46,XY complete gonadal dysgenesis, in which spontaneous puberty is rare and fertility is unreported. The significant family history of ambiguous genitalia and sex reversal across several generations presents a unique opportunity to explore the genetics of sexual differentiation and perhaps identify a novel gene involved in gonadal determination. ...
Alternatively, because at least one other member of this extended family has 46,XY/45,X mixed gonadal dysgenesis (V-28), disorders of sexual development in this family may be due to a mutant gene that predisposes to chromosomal mosaicism and mixed gonadal dysgenesis. ...
This extraordinary family affords an exceptional opportunity to investigate potential factors that can induce ovarian differentiation and function without the Xq critical region. Meanwhile, DNA has been obtained on 19 family members (three affected, 16 unaffected) across three generations in the hopes of identifying the etiology of sex reversal in this interesting family. Linkage analysis is a potential next step as efforts are being made to obtain DNA from more affected members. A genome-wide search for deletions or duplications in this mother and her daughter may serve to uncover novel gene mutations responsible for sex reversal or may even reveal a genetic cause for chromosomal mosaicism and mixed gonadal dysgenesis. ...
There's one subsequent paper from a few months later and one from 3 years later from the same group; I can't access the text of those, to see if they report further on the studies from the 19 other family members.
Anyway - it's not that this person is a "3rd sex", it's (almost certainly) that she has a genetic mutation, or more than 1, that give her a very unique mismatch between karyotype & phenotype. She developed as a woman*, had the hormones of a woman*, and reproduced as a woman*, it's just that the researchers aren't quite sure how that all that managed to happen in her unique situation.
*Here using "woman" in the traditional sense of that word
