It looks like you're using an Ad Blocker.
Please white-list or disable AboveTopSecret.com in your ad-blocking tool.
Some features of ATS will be disabled while you continue to use an ad-blocker.
"A few minutes before I was born, the power went out.
...After the power came back on and everyone came back to their senses,
I’m not there. Me, the baby, has already been delivered. They found me out in a
hallway wrapped up in a towel. One testicle was missing." - R.D.
March 2, 2006 Northern California - Fifty-eight years ago, the date July 2, 1947, was two days before the alleged crashes of three extraterrestrial aerial craft in the Roswell and White Sands Proving Ground region of New Mexico. That night of July 2nd, in Casper, Wyoming, a baby boy was born after 35 minutes of missing time, later linked to an abduction of the unborn child by a non-human entity that had orange eyes. Over the past fifty-eight years, that child, “R.D.,” grew into adulthood, haunted by strange memories and the panicked confusion his mother described at the time he was born. His official birth certificate says R.D. was delivered in the public hospital in Casper. Yet, his mother was definite that she was in a military hospital that seemed nearly empty while she was in labor.
On July 2, 1947, RD was born in a Casper, Wyoming, hospital.
His birth certificate names the public hospital. But his mothersaid she delivered in a Casper military hospital.
His mother passed away some years ago, but the desire to understand what happened when he was born kept RD reading and researching about people who have described missing time abductions by non-human entities.
After hearing me speak on the radio about government cover-up of UFO crashes, retrievals and back-engineering of extraterrestrial technologies, R.D. contacted me. He explained that he owns a farm supply company in northern California and is afraid to disclose his identity. He does not want to hurt his business and family life. But he gave me permission to interview him on audiotape for Earthfiles and Dreamland. He is curious if anyone else has heard of, or experienced, a similar missing time near the moments of birth. If any viewers and listeners have more information, please e-mail: Earthfiles@earthfiles.com.
Here now is the only case of missing time before birth that I’ve ever encountered in my investigations of Real X-Files.
"RD," Owner, Farm Supply Company, Northern California: “A few minutes before I was born, the power went out. Everything turned black. No emergency power came on. The people tuned out. After the power came back on and everyone came back to their senses, I’m not there. Me, the baby, has already been delivered. They found me out in a hallway wrapped up in a towel. One testicle was missing.
WAS THERE AN EXCISION IN THE SAC?
Yes, they had to sew it back up.
WAS THERE ANY BLOOD?
WHAT I’VE HEARD YOU SAY IS THAT YOUR MOTHER WAS IN THE PROCESS OF LABOR...
...AND YOU ARE NOT BORN YET.
ALL OF A SUDDEN THE POWER GOES OUT. THE LIGHTS GO OUT. AND I ASSUME THIS IS TESTIMONY FROM YOUR MOTHER?
This is testimony from my mother and second hand testimony from somebody else 30 years later.
BUT GOING BACK TO YOUR MOM WHO WAS THERE AND TRYING TO GIVE BIRTH, SHE REMEMBERS THAT THE POWER WENT OUT, EVERYTHING WENT DARK. IT’S NOT KNOWN FOR HOW LONG. IT’S NOT KNOWN WHAT HAPPENED TO THE DOCTOR, YOUR MOTHER AND THE PEOPLE. BUT WHEN THE LIGHTS COME ON, AT WHATEVER POINT OF TIME THAT IS – AND WE’RE ASSUMING SOME SORT OF MISSING TIME AS A GROUP OF PEOPLE – YOU ARE BORN NOW ON A TABLE IN THE HALL WITH ONE OF YOUR TESTICLES CUT OUT WITH A CLEAR EXCISION.
Well, I won’t say it’s a clear incision. Let’s say it was surgically removed and my mother said there was no blood. They were checking me to see what had happened.
WHAT IS THE DIFFERENCE BETWEEN YOUR TESTICLE BEING CUT OUT AND USING THE TERM ‘CLEAR EXCISION'? CLEAR EXCISION MEANS SOMETHING HAS BEEN REMOVED THROUGH A CUT.
They said that if they had done it or cut something off of me, it would have been different and there would have been blood and an open wound. But it was pretty much - there was no blood, nothing. And they just put a stitch or two on as a kind of preventative measure. Then they noticed there was a drop of blood in front of each ear. They had a small incision there, too, on the upper top right on the head where the ear connects itself.
HOW BIG AN INCISION ABOVE EACH EAR?
I don’t know for sure, but she thought it was about a quarter-inch.
WHAT YOU’VE DESCRIBED IS SO REMARKABLE THAT MOST PEOPLE LISTENING WOULD HAVE A HARD TIME FOLLOWING WITHOUT SAYING, ‘HOW COULD THIS BE?’ BUT WE KNOW IN THE WORLD OF THE HUMAN ABDUCTION SYNDROME, THAT ALL KINDS OF VERY BIZARRE THINGS HAVE HAPPENED IN WHICH PEOPLE REMEMBER BEING UP TO A CERTAIN SECOND AND THEN THEY THINK THAT THINGS CONTINUE THE NEXT SECOND. BUT IN FACT, THERE CAN BE TWO HOURS MISSING OR FIVE DAYS OR WHATEVER.
Right. She was in pain. She was in labor. Everything went black instantaneously. When the lights came back on, she was not in pain. She was not in labor. The doctors – I think there was one doctor and two nurses – if I remember correctly, my mother told me there was one male and two female and only three of them. They are acting extremely disoriented. They are looking around like they were just waking up or something. Then they got into kind of a panic and then she got into a panic and somebody went running out of the door and came back about a minute later with me! So, they had no recollection or idea about how I was born or delivered.
DID ANY ONE TAKE PHOTOGRAPHS OF THIS AT THE TIME?
No. But it gets stranger as we go on here, too. So that was some of the information imparted to me by my mother. And by the way, the missing time was approximately 35 minutes. The electric clock on the wall was off by 35 minutes.
Memory of Orange-Eyed Being
With Smaller Grey "Androids"
LET’S ASSUME IT’S MISSING TIME. YOU JUMP FROM THERE TO YOUR THIRTIES BEFORE ANY OF THIS COMES INTO PLAY AS AN ABDUCTION EXPERIENCE WITH NON-HUMANS?
I some times would have a dream and in this one dream scenario, I would see a creature, this face, and it was humanoid, but not human: no hair, grey, but very weathered-looking with lines around the mouth and the nostril area. The eyes were orange.
COMPARE THAT COLOR TO SOMETHING I MIGHT KNOW.
A ripe orange.
Very, very orange.
HOW WOULD YOU COMPARE THE DETAILS OF THOSE EYES TO HUMAN EYES?
They were bigger. And no whites. There was no iris, but there was a difference in the very center which might have been a pupil. It was still orange, but it was different – a little more yellow.
SO, A YELLOW CENTER, PERHAPS, IN A BRIGHT ORANGE EYE.
A bright orange eye. And then out at the very edge, dark. Black instead of white.
WAS THE CENTER PART THAT WAS YELLOW VERTICAL LIKE A SNAKE’S? OR WAS IT ROUND LIKE A HUMAN’S?
It wasn’t distinctly like we have a hole in the center. It was not like that. It was more just like an area there a lot less intense in the coloring and it was a little different in the configuration.
THE COLOR OF THE SKIN?
Sort of brownish-grey.
BROWNISH GREY. CAN YOU THINK OF ANYTHING I MIGHT KNOW THAT WOULD BE THAT SAME COLOR?
Like a dark russet potato. I got the feeling of age.
WAS THERE A MOUTH?
Oh, yes. Small lips.
SO, HOW DOES THIS LINK TO THE 35-MINUTE-MISSING TIME ON JULY 2, 1947?
What I saw at my own birth time and my own recollection of what happened when I was born is all of a sudden, I’m aware of light. That’s the first thing I’m aware of. Then the second thing I’m aware of is bright light. I didn’t see any doctors. I didn’t see my mother. Then the second thing I was aware of is the face I described to you. But I saw other faces, too.
The other faces were alien also, but they were more of what I call the standard garden variety grey, which is black eyes. Within my vision, they are in very close proximity to each other, physically close. Even though in my memory I don’t hear anything verbal, there is some kind of interaction going on between them and I was either being held, or in a container that was being held, by the smaller grey entities. They entered into some kind of communication, if you want to put it that way, with the entity with the orange eyes. At that point, I did not see the other entities any longer.
TELEPATHICALLY – EVEN THOUGH YOU WERE A NEWBORN BABY – DO YOU REMEMBER ANY EXCHANGE OF TELEPATHIC THOUGHTS?
Yes, that’s where this gets very interesting and I think why it bugged me for the rest of my life. I could feel a sense of urgency. There was no vocalization and I didn’t know words anyway. But there was this feeling of urgency and maybe beyond urgency, concern between the various entities and this one orange-eyed entity. When they handed me to him, I had this feeling that I was definitely being communicated with in my memory of the event. But it’s more like, for lack of a better term, he was trying to do something to me in my mind - call it programming, maybe. I don’t know.
I was somehow rejecting it. This is why the level of concern by the entities because it wasn’t taking. I can remember that it’s hard for me to figure out what the time involved on that was, but I would say it was definitely in the minutes that after whatever repeated interaction was going on between me and the orange-eyed being, it just ended abruptly. I was given back to the other creatures, the little greys. Then I had a feeling of physical pain and then I went to sleep.
I woke up when I was being carried by a human and assume it was the hospital orderly that picked me up from the hallway outside the delivery room. And then I saw my mother.
THIS IS AFTER THE 35 MINUTES OF MISSING TIME WHEN THE POWER WENT OFF AND EVERYTHING WENT DARK AND NOBODY KNOWS EXACTLY WHAT HAPPENED?
Implications of Hostile, Orange-Eyed Being?
IN THE 58 YEARS SINCE THE VERY BIZARRE TRAUMATIC BIRTH THAT MIGHT BE LINKED TO AN ABDUCTION RIGHT BEFORE BIRTH FOR SOME KIND OF PROGRAMMING IN WHICH YOU RESISTED IT. YOU STILL END UP WITH ONE OF YOUR TESTICLES REMOVED AND TWO CUTS ABOVE EITHER EAR.
FOR PEOPLE LISTENING, WHAT WOULD YOU LIKE YOUR FELLOW HUMANS TO LEARN FROM THIS EXPERIENCE BASED ON WHERE YOU ARE AT 58-YEARS-OLD IN YOUR THINKING ABOUT WHAT HAS HAPPENED AND WHAT HAS OCCURRED IN YOUR LIFE?
That’s a good question. I think that what this points out that we’re not in control of everything to the extend that we think we are, as soul masters of our own destiny on this planet as humans. I really don’t like the fact that they took an organ that is capable of producing a lot of DNA for them (testicle) for genetic purposes.
IN YOUR LIFE, IN DREAMS OR TELEPATHY OR ANY OTHER METHOD, HAVE YOU EVER RECEIVED ANY INSIGHT ABOUT WHY THE ORANGE-EYED BEING AND THE SMALLER GREYS TOOK YOU AT BIRTH AND WHY THEY TOOK YOUR TESTICLE?
Intuitively, yes. I perceived a definite feeling of hostility. That was the last emotion I felt from the individual with the orange eyes.
HOSTILITY TOWARDS YOU?
Hostility towards me. Looking at it as an adult, it was like, ‘How dare you resist me and not go along with this?’ And so, what was their intent? What are they doing? I don’t know. Maybe they are looking for a Manchurian candidate? I don’t know. Are they just looking at having some kind of genetic experiment? I don’t know. But they are definitely doing something and it’s not random. Obviously, it’s going to have planning and forethought and there is a program at work here.
WHAT DO YOU THINK THAT PROGRAM MIGHT BE?
I have no idea, except I’m not so sure it’s good for us. I’ve never had a good, positive feeling about these creatures or beings. The creature I’m talking about with the orange eyes is on the other side (against good beings).
HE’S THE ONE WHO WAS HOSTILE TO YOU WHEN YOU WERE A BABY.
Right. They don’t want to reveal themselves because they would possibly screw up their agenda which is manipulative, underhanded, devious and is out to do us no good and would like to deprive us of our free will.
WHAT IS THEIR GOAL?
OF THE SURFACE LIFE OF THE EARTH?
Subjugation of humanity, whether it’s just on this planet – if this is one of many, I don’t know. But subjugation of the human race as we know it. It’s their needs and I don’t know what they are.
IF YOU EXPERIENCED IN REALITY AN EFFORT TO PROGRAM YOU AS A NEWBORN ABOUT TO BE BORN, NOT YET BORN, BY THE ORANGE-EYED CREATURE AND YOU RESISTED? HOW MANY BABIES ON THIS PLANET NOW OF 6.5 BILLION MIGHT BE PROGRAMMED BY THE ORANGE-EYED ENTITIES?
That’s something I’ve wondered about many times and I don’t know. But I have the distinct feeling that it’s more than a few.
HOW WOULD ANY OF US KNOW?
I don’t know. I really don’t know.
IF THAT IS THE TRUE CONDITION OF THE EARTH TODAY, THEN THERE ARE GEOPOLITICAL DIVISIONS THAT MIGHT ALL LOOK LIKE HUMANS, BUT SOME ARE PROGRAMMED BY SOMETHING ELSE?
They are humans who have been altered or affected.
THAT’S WHAT I MEAN – PROGRAMMED.
The Manchurian candidate idea.
WHAT WOULD PROGRAMMED HUMANS - PROGRAMMED BY THE ORANGE-EYED BEING - BE UP TO?
Right. But my feeling is they were running out of time to achieve their goals. So, they ramped up their programs and efforts.
I WONDER WHY THERE WOULD BE A TIME LIMIT?
I don’t know.
I’VE RUN INTO THAT ISSUE BEFORE WITH PEOPLE IN THE HUMAN ABDUCTION SYNDROME. PEOPLE HAVE A SENSE THAT THE BEINGS THAT ARE DEALING WITH THEM ARE RUNNING OUT OF TIME, THERE IS GREAT URGENCY, THAT WE WOULD NOT UNDERSTAND AS A SPECIES WHAT’S HAPPENING. PROBABLY THE OTHER COMMON DENOMINATOR IS THAT PEOPLE IN THE HUMAN ABDUCTION SYNDROME DO NOT TRUST THE MOTIVES OF THE BEINGS THAT HAVE DEALT WITH THEM.
Those are my feelings, at least of that particular class of beings. But I don’t think they are the only beings out there. In fact, I know there are other beings out there who are not under-handed and not manipulative.
THE FACT THAT YOU HAD SOME KIND OF INSTINCTIVE RESISTANCE AND THERE MIGHT BE A MAJORITY OF HUMANS THAT HAVE AN INSTINCTIVE RESISTANCE. THAT GOES TO THE QUESTION: WHICH PERCENTAGE DOES NOT, OR IS NOT ABLE TO RESIST, AND WHAT IS THAT PROGRAMMED PERCENTAGE DOING ON THE PLANET – ESPECIALLY IF THAT IS THE PERCENTAGE IN POSITIONS OF POWER?
That’s a very good question. I don’t know. I don’t know what percentage of them have achieved their ends or goals. Now, this might seem very strange, but I have the distinct feeling that there is interference, if you want to put it that way, being run against this program (of the orange-eyed entity/ies), their agenda.
Conflicting Agendas by E.T.s Concerning Humans?
A COUNTER MOVE AGAINST THE ORANGE-EYED ONE.
THEN WHO IS DOING THE COUNTERING?
I have the feeling that some people might call them angels, some people might call them the Nordics. I don’t know who you want to call them. I can’t unequivocally say I’ve actually met them the same way I met this being who I really believe was physical and I definitely did meet.
But I think they (the ones countering the orange-eyed entity) are promoting the development of humanity and they are on our side. I know that’s a rather simplistic overview and they want us to succeed, but we have the ability to destroy ourselves. Without interference here, it’s maybe still a toss up. I don’t know. Or if not destroy ourselves, at least wreak quite a bit of panic and damage against ourselves.
I also have the feeling that things are going to get worse before they get better. A lot worse on a lot of different fronts.
IF WE HAVE SOME NON-HUMANS OUT THERE THAT MIGHT HAVE BEEN INVOLVED IN SEEDING LIFE ON THIS PLANET IN THE FIRST PLACE AND THEY HAVE MONITORED AND WATCHED AND CARE WHETHER OR NOT THE CURRENT HUMANOID MODEL, HOMO SAPIENS, EVOLVES AND SURVIVES, WHY AT THIS CRITICAL TIME WITH ATOMIC WAR AROUND THE CORNER PERHAPS – WHY WOULDN’T THOSE NON-HUMANS MAKE THEMSELVES CLEARLY PUBLIC SO THAT IT WOULD SHIFT THE WORLD, WOULD SHIFT HUMAN MINDS, IN A SECOND?
I don’t know. I think it has not so much to do with free will as it has to do with we have to come to grips with our own ability to make decisions on our own. It’s almost like (the good ones) are rooting for us, but we still have to prove ourselves."
Anorchia is the absence of both testes at birth.
In the first several weeks after the egg is fertilized, the embryo develops early sex organs. In the male, if the early testes fail to develop before 8 weeks into the pregnancy, the baby will have female genitals.
If the testes are lost between 8 and 10 weeks, the baby will be born with ambiguous genitalia. This means the child will have parts of both male and female genitals.
However, if the testes are lost after the time when the male genitals differentiate (between 12 and 14 weeks), the baby will have normal male genitals (penis and scrotum), but no testes. This is known as congenital anorchia, or the "vanishing testes syndrome."
The cause is unknown, but in some cases there are genetic factors.
Anorchia, or the "vanishing testis syndrome," is characterized by the absence of testis in a 46,XY individual with a male phenotype. The etiology is unknown; however, the familial occurrence of the disease and the association of this phenotype with 46,XY gonadal dysgenesis has led to the suggestion that genetic factors, which play a role in testicular determination, may be involved. Alternatively, exploratory laparoscopy has suggested that anorchia may be caused by a prenatal testicular vascular accident associated with torsion during testicular descent. We screened a cohort of 14 boys with bilateral anorchia for mutations in the Y chromosome-linked testis-determining gene SRY (sex-determining region, Y chromosome); in the gene necessary for correct testicular descent, INSL3; and in the gene of its receptor (LGR8). Mutations in the INSL3 gene and the LGR8 T222P mutation are known to cause cryptorchidism. We confirmed previous reports that mutations in the SRY gene are not associated with anorchia. Although a common polymorphism was identified in the INSL3 gene, no mutations were observed. The recurrent T222P mutation in the LGR8 gene was not found in any of the patients. These data show for the first time a lack of association between genetic factors necessary for correct testicular descent and anorchia.
FSH stands for follicle-stimulating hormone (FSH). This hormone is released by the anterior pituitary gland.
In women, FSH stimulates production of eggs and a hormone called estradiol during the first half of the menstrual cycle.
In men, FSH stimulates production of sperm.
This article discusses the test to check the level of FSH in the blood.
How the Test is Performed
Blood is drawn from a vein, usually from the inside of the elbow or the back of the hand. The site is cleaned with germ-killing medicine (antiseptic). The health care provider wraps an elastic band around the upper arm to apply pressure to the area and make the vein swell with blood.
Cryptorchidism is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall.
Figure. 1 - Summary of the molecular events in sex determination indicating the genes in which molecular defects can cause gonadal disorders in animal models. Some of these disorders were confirmed in humans.
Sf1, Wnt4 and Wt1 are expressed in the urogenital ridge whose development results in formation of the gonads, kidneys and adrenal cortex. Several genes, Wt1, Sf1, Lhx9, Lim1, Gata4, Dmrt1, Emx2, Dhh, Wnt4 and Fgf9, are expressed in bipotential gonad. Sf1 and Wt1 up-regulate Sry expression in pre-Sertoli cells and initiates the male gonad development. Sry strongly up-regulates Sox9 in Sertoli cells. Sox9 up-regulates Fgf9 and Fgf9 maintains Sox9 expression, forming a positive feed-forward loop in XY gonads. The balance between Fgf9 and Wnt4/Rspo1 signals is shifted in favor of Fgf9, establishing the male pathway. If Wnt4/Rspo1 is over expressed activating the b-catenin pathway this system blocks Fgf9 and disrupt the feed-forward loop between Sox9 and Fgf9. Sry inhibits beta-catenin-mediated Wnt signaling. Overexpression in either DAX1 (locus DSS) or WNT4/RSPO1 antagonizes testis formation. On the other hand, Dax1 regulates the development of peritubular myoid cells and the formation of testicular cords. Dmrt1, Atrx and Dhh are also involved in testes determination.
Figure 2 - Summary of the molecular events in sex differentiation indicating the genes in which molecular defects cause 46,XY DSD in humans. After testis determination, hormones produced by the male gonad induce the differentiation of internal and external genitalia acting on their specific receptor. The regulation of AMH gene requires cooperative interaction between SOX9 and SF1, WT1, GATA4 and HSP70 at the AMH promoter. Combinatorial expression of DHH and SF1 is required for Leydig cell development. SF1 regulates gonadal steroidogenesis. The Leydig cells also produce the INSL3, which causes the testes to descend to the scrotum.
Testosterone is further reduced to dihydrotestosterone (DHT), which acts on the androgen receptor of the prostate and external genitalia to cause its masculinization (Fig. 3-4).
Fig 3 – The development of male internal genitalia in human embryo.
The 6-wk-end embryo is equipped with both male and female genital ducts derived from mesonephrons
Fig 3 A – The development of male internal genitalia in human embryo. The regression of the Müllerian ducts is mediated by the action of AMH secreted by the fetal Sertoli cells.
Fig 3 B – The development of male internal genitalia in human embryo
The stabilization and differentiation of the Wolffian ducts are mediated by testosterone synthesized by the fetal Leydig cells. The enzyme 5a-reductase 2 converts testosterone to dihydrotestosterone (DHT). The Wolffian ducts differentiate into epdidymis, vas deferens and seminal vesicles. DHT contributes to prostate differentiation.
Figure 4 -The development of male external genitalia in human embryo.
At the 8-wk-end embryo the external genitalia of both sexes are identical and have the capacity to differentiate in both direction: male or female. The DHT stimulates growth of the genital tubercle and induces fusion of urethral folds and labioscrotal swellings. It also inhibits growth of vesicovaginal septum preventing the development of the vagina.
Figure 4B -Development of male internal and external genitalia in human embryo. At the 12-week-end embryo both internal and external genitalia are completely formed.
The term disorders of sex development (DSD) include congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. This nomenclature has been recentely proposed to replace terms such as intersex, pseudohermafroditism and sex reversal (3, 4). These terms, previously used to describe the disorders of sex development, are potentially offensive to the patients and the consensus on the management of intersex disorders recommend a new nomenclature that will be followed in this chapter (3, 4). The proposed changes in terminology aim integrate upcoming advances in molecular genetics in the new classification of DSD (5).
The 46,XY disorders of sex development (46,XY DSD) are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinisation with or without the presence of Mullerian structures. Male gonads are identified in the majority of 46,XY DSD patients, but in some of them no gonadal tissue is found. Complete absence of virilization results in normal female external genitalia and these patients generally seek medical attention at pubertal age, due to the absence of breast development and/or primary amenorrhea. 46,XY DSD can result either from decreased synthesis of testosterone or from the impairment of androgen action (6) Our proposal classification of 46,XY DSD is displayed in Table 1-5
46,XY DSD due to ABNORMALITIES OF GONADAL DEVELOPMENT
Gonadal dysgenesis - complete and partial forms
Embryonic testicular regression syndrome
Gonadal dysgenesis associated with syndromic phenotype
46,XY DSD ASSOCIATED WITH CHOLESTEROL SYNTHESIS DEFECTS
46,Xy DSd due to testosterone synthesis defectS
Impaired Leydig cell differentiation (LHCGR defects)
Complete and partial forms
Enzymatic defects in testosterone synthesis
Defects in adrenal and testicular steroidogenesis
3-b-hydroxysteroid dehydrogenase type II deficiency
17a-hydroxylase and 17,20 lyase deficiency
Altered steroidogenesis due to disrupted electron transfer
P450 oxidoreductase defect
Cytochrome b5 defect
Defects in testicular steroidogenesis
Isolated 17,20-lyase deficiency
17b-hydroxysteroid dehydrogenase III deficiency
DEFECTS IN TESTOSTERONE METABOLISM
5a-reductase type 2 deficiency
DEFECTS IN ANDROGEN ACTION
Androgen insensitivity syndrome
Complete and partial forms
Persistence of Müllerian ducts syndrome
Defect in AMH synthesis
Defect in AMH receptor
Congenital non-genetic 46,XY DSD
Maternal intake of endocrine disruptors
Associated with impaired prenatal growth
Ovotesticular 46,XY DSD
46,XY gender identity disorders Male to female transsexualism
Nevertheless, the attainment of molecular diagnosis is related to a properly established clinical – hormonal diagnosis.
46,XY DSD DUE TO ABNORMALITIES IN GONADAL DEVELOPMENT
Gonadal determination and differentiation: this process iniciates with the organization of the early urogenital ridge that is controlled by a number of factors acting in concert such as the nuclear receptor proteins Wilms’ tumor suppressor (WT1) and steroidogenic factor 1 (SF1), which prepare the gonad for the sex determination step (11, 12). Wt1 functions upstream of two orphan nuclear receptors: Sf1 and Dax1 (Dosage sensitive sex reversal, congenital adrenal hypoplasia, X chromosome) (13). SF1 gene prepares the ground for SRY expression, cooperating to express AMH, the first marker of testis differentiation (14, 15). SF1 will later regulate steroid production by Leydig cells, whose proper development depends on the previous and successful establishment of the Sertoli lineage.
The discovery of the sex-determining region of the Y chromosome (SRY) was the first crucial step towards a general understanding of sex determination (16, 17). SRY gene, located in the distal region of the short arm of the Y chromosome, (Yp11.3) encodes a protein containing a "high-mobility group" domain (HMG box), which enables it to bind and bend DNA (16, 18). In the mammalian male embryo, the first molecular signal of sex determination is the expression of Sry within a subpopulation of somatic cells of the indifferent genital ridge. The transient expression of Sry drives the initial differentiation of pre-Sertoli cells that would otherwise follow a female pathway becoming granulosa cells. Once Sry expression begins, it initiates the cascade of gene interactions and cellular events that direct to the formation of a testis from the indifferent fetal gonad. So, pre-Sertoli cells proliferate, polarize and aggregate around the germ cells to define the testes cords. Migration of cells into the gonad from mesonephros or the coelomic epithelium is subsequently induced by signals emanating from the pre-Sertoli cells. Peritubular myoid cells surround the testes cords and cooperate with pre-Sertoli cells to deposit the basal lamina and further define the testis cords. Signalling molecules produced by the pre-Sertoli cells promote the differentiation of somatic cells found outside the cords into fetal Leydig cells, thus ultimately allowing the production of testosterone. Endotelial cells associated to form the coelomic vessel which promotes efficient export of testosterone. The gene Sox9 is up-regulated immediately after Sry expression initiates and is involved in the initiation and maintenance of Sertoli cell differentiation during early phases of testis differentiation (19). Extracellular signaling pathways (Fgf9 and Igf1r/Irr/Ir) play a significant role in Sox9 expression. Recently, a new model has been suggested in that the fate of the bipotential gonad is controlled by mutually antagonistic signals between Fgf9 and Wnt4/Rspo1. In this model Sox9 up-regulates Fgf9 and Fgf9 maintains Sox9 expression, forming a positive feed-forward loop in XY gonads. The balance between Fgf9 and Wnt4/Rspo1 signals is shifted in favor of Fgf9, establishing the male pathway. Sry inhibits b-catenin-mediated Wnt signaling by a novel nuclear function of Sry (20). In the absence of this feed-forward loop between Sox9 and Fgf9, Wnt4/Rspo1 the activated b-catenin pathway blocks Fgf9 and promote the ovarian fate
Abnormalities in the expression (underexpression or overexpression or time of expression) of genes involved in the cascade of testis determination can cause anomalies of gonadal development and consequently, 46,XY DSD. The absence, regression or the presence of malformed testes induce to ambiguous development of the genital ducts and/or external genitalia in these patients.
46,XY DSD due to ABNORMALITIES OF GONADAL DEVELOPMENT
Total absence of gonadal tissue or gonadal streak confirmed by laparoscopy has rarely been described in XY subjects with female external and internal genitalia indicating the absence of testicular determination (22). Mendonca et al described a pair of siblings, one XY and the other XX, born to a consanguineous marriage, with normal female external and internal genitalia associated to gonadal agenesis (23). Mutations in SF1 and LHX9 were ruled out in these siblings (24, 25). The origin of this disorder remains to be determined, but a defect in other gene essential for bipotential gonad development is the most likely cause of this disorder.
Take a good look at the before and after surgery pictures of the beautiful little girl in the picture, could her condition physically be similar to a reptilian set of features with the low and smallish ears, the neck which is almost nonexistent?
Also related to the above post.
Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis":550) encompasses several conditions, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Typical females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or 'Turner mosaicism'.
Occurring in 1 in 2000 – 1 in 5000 phenotypic females, the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks. Girls with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases. Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas.
edit on 24-1-2011 by antar because: Edit for link
Vanishing twin syndrome was first recognized in 1945. Vanishing twin syndrome is when one of a set of twin/multiple fetuses disappears in the uterus during pregnancy. This is the result of a miscarriage of one twin/multiple. The fetal tissue is absorbed by the other twin/multiple, placenta or the mother. This gives the appearance of a “vanishing twin”.
How is Vanishing Twin Syndrome identified?
Before the use of ultrasound, the diagnosis of the death of a member of a multiple pregnancy was made through an examination of the placenta after delivery. Today, with the availability of early ultrasounds, the presence of twins or multiple fetuses can be detected during the first trimester. A follow-up ultrasound may reveal the “disappearance” of a twin.
For example, a woman may have an ultrasound at 6 or 7 weeks gestation. The doctor identifies two fetuses and the woman is told she is having twins. When the woman returns for her next visit, only one heartbeat can be heard with Doppler. A second ultrasound is conducted and only one fetus is observed.
Sometimes a woman may have symptoms that would indicate a miscarriage, yet, with an ultrasound, a single baby is found in her uterus.
Vanishing twin syndrome has been diagnosed more frequently since the use of ultrasonography in early pregnancy. A conservative estimate of frequency is that vanishing twin syndrome occurs in 21-30% of multifetal pregnancies.
The function of over 95 percent of our DNA is still a mystery. That is, we have spelled out the code, but have discovered that most of it does not code for proteins. Genes can be separated by a vast desert of noncoding DNA, which is sometimes called “junk” DNA. But is it useless? Probably not, because included among noncoding sequences are the crucial promoter regions which control when genes are turned on or off.
The human genome has more noncoding DNA than any other animal known to date and it is not clear why. At least half of the noncoding sequence is made up of recognizable repeated sequences, some of which were inserted by viruses in the past. These repeats may provide some genomic wiggle room. That is, long stretches of noncoding DNA provide a playground for evolution. It may be a huge selective advantage to have all that raw material available to mutate and eithermodify existing traits and behaviors or express new ones all together. Humans are characterized by the ability to be flexible and to adapt quickly, so our junk DNA is potentially a priceless contribution to our humanness.