FAQ • Gonadal Dysgenesis

FAQ - Gonadal Dysgenesis
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Describe features and causes of HOLOPROSCEPHALY, CAUDAL DYSGENESIS, SACROCOCCYGEAL TERATOMA and SITUS INVERSUS?

these are disorders of 3rd week of development .You may add ref. sites links etc..

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Holoprosencephaly (HPE, once known as arhinencephaly) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres. http://en.wikipedia.org/wiki/Holoprosencephaly
http://www.ninds.nih.gov/disorders/holoprosencephaly/holoprosencephaly.htm
Caudal dysgenesis (CD) constitutes a heterogeneous spectrum of congenital caudal anomalies, including varying degrees of agenesis of the vertebral column, as well as anorectal and genitourinary anomalies. Sirenomelia, characterized by a fusion of the lower limbs, could represent the most severe end of this spectrum.
http://www3.interscience.wiley.com/journal/119054915/abstract
http://www3.interscience.wiley.com/journal/119054915/abstract?CRETRY=1&SRETRY=0
http://cat.inist.fr/?aModele=afficheN&cpsidt=3261249
Sacrococcygeal teratomas (SCT) are neoplasms, composed of a wide diversity of tissues foreign to the anatomic site in which they arise.
http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijgo/vol4n2/teratoma.xml
http://en.wikipedia.org/wiki/Sacrococcygeal_teratoma
Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement is known as situs solitus. In other rare cases, in a condition known as situs ambiguus or heterotaxy, situs cannot be determined.The condition affects all major structures within the thorax and abdomen. Generally, the organs are simply transposed through the sagittal plane. The heart is located on the right side of the thorax, the stomach and spleen on the right side of the abdomen and the liver and gall bladder on the left side. The left lung is trilobed and the right lung bilobed, and blood vessels, nerves, lymphatics and the intestines are also transposed.

If the heart is swapped to the right side of the thorax, it is known as situs inversus with dextrocardia or situs inversus totalis. If the heart remains in the normal left side of the thorax, a much rarer condition (1 in 22,000 of the general population), it is known as situs inversus with levocardia or situs inversus incompletus. Situs inversus with levocardia, or dextrocardia without situs inversus, present much higher rates of congenital defects than situs inversus with dextrocardia.
http://en.wikipedia.org/wiki/Situs_inversus
http://emedicine.medscape.com/article/413679-overview (+ info)

Are Gonadal Stromel Tumors only found in females?

No they are also found in males.

Gonadal stromal tumors usually arise from Sertoli or Leydig cells, which are the primitive fetal cells that differentiate into the adult mature gonads (ovaries in females, testicles in males).

In males, gonadal stromal tumors usually lead to excessive estrogen production and result in feminization, while in females, testosterone is produced and masculinization is the result. See also info about androblastoma, arrhenoblastoma, Sertoli cell tumor, Leydig cell tumor. (+ info)

info on gonadal disorder?

Im doing research

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Gonadal Disorders
Adrenal Hyperplasia, Congenital
Feminization
Hypogonadism
Ovarian Diseases
Puberty, Delayed
Puberty, Precocious
Sex Differentiation Disorders
Testicular Diseases
Virilism
Hyperandrogenism (+ info)

Im 20 and cant have sex properly since I was 15?

I was put on Prozac at 15 and went off at 18. Ever since I was put on, I am unable to have sex properly (I cant get it up, and if I do its only half way and I orgasm in 20 seconds)

I just read that prozac "causes atrophy in gonadal tissue in boys, causing problems in puberty and sexual activity later in life."

Is my damage permanent? Can I ever get to the sexual being I was at 14-15?

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it's long term use of prozac that occasionally causes gonadal atrophy, you didn't take it long enough for any damage to occur, let alone permanent damage. Suspect your issue is psychological. (+ info)

do all people with single palmar lines on their palms have down's syndrome?

or any of these disorders:
Down syndrome
Aarskog syndrome
Cohen syndrome
Fetal alcohol syndrome
Trisomy 13
Rubella syndrome
Turner syndrome
Klinefelter syndrome
Pseudohypoparathyroidism
Gonadal dysgenesis
Cri du chat syndrome

i'm a fairly normal girl. (ask anyone to testify) i'm in my sophomore year at college and i haven't manifested any signs/symptoms of any of these diseases.

it's just that i learned today that children with down's syndrome have simian creases on their palms and that got me worried because i have a single palmar line on my palm.

i strongly believe that i do not have Down's. or do i? Down's doesn't run in the family. nor do any of the aforementioned disorders.

could it be that i just happen to have a single palmar line? is this a normal finding?

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I can tell you for sure you do NOT have Down Syndrome. That is something that they would have determined at birth and your parents would know along with teachers and doctors. Just because you have a "line" on your hand does NOT mean that you have some sort of disorder. And by the way my son has Downs and he has two palmer lines on both hands. Stop reading into things, you Will only make yourself think that you are sick!! (+ info)

Gynecology Questions???????????

A 7-year old girl addressed to the gynecologistwith complaints of bloody discharge from genitalia, sudden intensive hair growth in the pubic region and growth of mammary glands. Ultrasound examination revealed the ttumorin the region of right ovary, 9 cm in diameter, unicameral. What is the diagnosis?
A.Premature incomplete sexual development, ovarian origin.
B.Premature sexual development, central origin.
C.Premature sexual development, ssupra renalorigin.
D.Testicular feminization.
E.Gonadal dysgenesia.

A 16-year old girl addressed to the gynagynecologisth complaints of absence of menses. In anamnesis — acute meningitis at 5 years old. At objective examination: height— 170.0 cm, relatively short trunk, hypoplasya of the mammary glands. Level of gonadotrophins in the serum and urine is decreased, osseal age corresponds to the calendar. Diagnose is retardation of sexual development of the central origin. What is the most adequate treatment:
A.Oestrogens during one month.
B.Progestagens during three months.
С. Oestrogen-gestagen complex during three months.
D.Vitamin therapy.
E.Physiotherapy.

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Why do you keep asking questions like this? Are you trying to cheat on an exam or test our own knowledge? (+ info)

What does this mean?

Test: S-_FERTILITY

Gonadal Hormones

FHS:7 U/L
LH:8 U/L
Oestradiol:104 pmol/L

Normal: FHS LH Oestradiol
Ranges: U/L U/L pmol/L
Follicular: 2 - 10 2 - 7 110 - 180
Mid-Cycle: 7 - 24 9 - 74 550 - 1650
Luteal: 1 - 10 1 - 9 180 - 840
Menopausal: 20 - 140 10 - 65 40 - 200
O/C: <5 <9 <80

VC

TstComplet:LH,FSH,Oestradiol,Prolactin...
Tests Pending:Macroprolactin,DHEAS

Prolactin:H 538 mIU/L ( <500 )
Macroprolactin:Not detected

Comments:
No evidence of marcoprolactin following PEG precipitation.
Mildly elevated prolactin levels are seen in stress,renal failure,hypothyroidism.

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(+ info)

Gynaecologists in the house?? Please tell me what this means!!?

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I am not a gynecologist but am writing because I have the link to a site that may help you find more information (there are doctors on this site that may be able to help). The link is at: http://forums.obgyn.net/womens-health (+ info)

How accurate are amniocentesis??? Can they be wrong?

How accurate is amniocentesis? When I was pregnant I was told by my OB doc that there was a possibility that my baby had trisomy. They weren't sure which kind he had or if he actually had one.(my quad test came back abnormal and they said that given my age and family history that this was rare to happen unless there was actually something wrong). We had an amniocentesis done and the results came back fine. I had other complications during my preg which include being dizzy alot, blackouts, peeing blood (they never did figure out why.) preterm labor 3 times. (Which they were able to stop everytime). Now my son is 8 months old was diagnosed with trigonocephaly which is a type of craniosynostosis, its where the skull closes too early usually during pregnancy making it so the brain keeps growing but the skull doesn't putting pressure on the brain. It is also called c syndrome. It is a chromosonal defect that causes this. The syndrome is thought to be caused by gonadal mosaicism. The most common form of mosaicism found through prenatal diagnosis involves trisomies which would lead back to my tests coming out saying my son has a type of trisomy. Then while doing research on the computer I came across trisomy 9 which one of the symptoms is dysmorphisms in the skull, which is the premature closure of the skull. Other symptoms include underweight, bulging eyes, slow motor skills. My son has all these. He doesn't laugh or make baby noises. He is very underweight. His eyes bug out and everything. We are still going through testing with him. My question is, is it possible the amnocentesis could have not detected or was wrong about the trisomy or am I being paranoid. I just want to know exactly what is wrong with my baby and trigonocephaly is not something that just happens at random to any one it is a birth defect and is chromosome defect

Here is a website describing C Syndrome a little better than I could
http://children.webmd.com/c-syndrome

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Tough question. Wikipedia says "The most common abnormalities detected are Down syndrome, Edward syndrome [Trisomy 18] and Turner syndrome [Monosomy X]."
So it sounds like not every syndrome is detected. Lots of times I have seen an abnormal quad screen, and then we find something odd on ultrasound, but there are too many syndromes to be able to diagnose before baby is born. I think diagnosing your child may take longer than you would like to wait simply because syndromes are very complex things and there are so many of them. Good luck. (+ info)

Is it safe for a pregnant woman to drink infant formula?

I would think not....

Aluminum

<5-45 ug/l in breast milk
557-2,346 ug/l in soy formula
Aluminum interferes with cellular metabolic processes and information transfer from DNA

Silicon

55.45ng/ml in milk of mothers with silicone implants
51.05ng/ml in milk of mothers without implants
746-13,811 ng/ml in 26 brands of formula tested for silicon
The effect of large amounts of silicon on an infant is unknown

Cadmium

Cadmium is a highly toxic metal that can cause kidney damage in high amounts. Neurotoxic effects such
as psychomotor disturbances, behavioral and cognitive disorders have been demonstrated in animal models
with low-dose exposure. Cadmium levels can be 6 times higher in soy formula compared to milk- based
formula. Cadmium is also found in cereals with the exposure of dietary cadmium from weaning diets up to
12 times higher in children fed infant formula compared to breast milk.
Genetically engineered corn and soy
Detected in Alsoy (Carnation/Nestle), Similac Neocare (Ross Labs), Isomil (Ross Labs), Prosobee (Mead
Johnson)
Transgenic ingredients pose the risk of introducing novel toxins, new allergens, and increased antibiotic
resistance to infants. The FDA does not require labeling of genetically engineered foods, so parents will
remain unaware that their baby is consuming transgenic ingredients

MSG (processed free glutamic acid and processed free aspartic acid)

These are known neurotoxins found in a number of infant formulas. Because the blood brain barrier is not
fully developed in infants, these neurotoxins are more accessible to the infant brain than the adult brain.
The highest levels of these neurotoxins were found in hypoallergenic formulas. Because no studies have
been done on the long term outcomes of infants fed on hypoallergenic formulas it is unknown if they
will exhibit more learning disabilities at school age, and/or more endocrine disorders such as obesity, and
reproductive disorders, later in life.

Phytoestrogens

Phytoestrogens are endocrine disruptors found in soy formulas. Infants fed soy formula can have circulating
phytoestrogen concentrations that are 13,000-22,000 times higher than normal levels in early life. These
bioactive compounds can create steroid hormone imbalance, compete with enzymes that metabolize steroids,
drugs and xenobiotics, and can influence gonadal function. Genistein can be carcinogenic if exposure
occurs during critical periods of differentiation. Soy formula has been linked to premature thelarche (breast
development in infants and girls under eight years of age). Phytoestrogens (isoflavones) also act on the
thyroid gland. They are well known inducers of goiter and anti-thyroid agents. They act against the thyroid
by inhibition of thyroid peroxidase. Children with autoimmune thyroid disease were three times more likely
to have been fed soy formula in infancy.
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Phthalates and Bisphenol-A

These are endocrine disrupting industrial chemicals. Phthalates are used as plasticisers and are testicular
toxins as well as estradiol imitators.
Bisphenol-A is used in the production of polycarbonate plastics and has been found in plastic baby bottles.
It can leach from the container and has been known to be estrogenic since 1938. Bisphenol-A resins are
used as lacquers to coat metal products such as food cans. With a high affinity for fatty products, it has
been shown to leach into the content of cans during the autoclaving process, including cans of milk based
infant formula.
Contaminants in water used to reconstitute concentrated and powdered formula

Lead

Lead in water used to reconstitute formula can cause elevations in blood lead levels if used from the hot
water tap or boiled. Boiling concentrates lead. There is a 6 point IQ drop for every 10ug increase in blood
lead levels.

Nitrates

Infants fed formula reconstituted with nitrate-contaminated water are at risk for potentially fatal methemoglobinemia.
Nitrates are converted to nitrites by the baby resulting in hemoglobin being converted to
methemoglobin that cannot bind molecular oxygen. This risk increases if babies under six months are also
fed baby food with high concentrations of nitrates such as green beans and bananas.

Atrazine

Atrazine is a weed killer that causes mammary and uterine cancer in rats. In the cities and towns with
the worst tap water contamination, formula-fed babies who consume reconstituted formula would receive a
lifetime dose of this chemical in the first four months of their lives.

Bacteria

Significant bacterial contamination can occur during home preparation of powdered infant formula.
Reconstituted formula stored in the refrigerator shows increasing bacterial counts over time

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makes me glad im a breastfeeder....but then again i was formula fed....i wonder how that affects my milk now...? (+ info)

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