Question Topics

Click on a category below to read questions and answers previously posted, or search the archives by keyword:

 
Help support this website: Donate to AsktheGeneticistSM
Adult-Onset Conditions
Autoimmune Disorders
Biochemical Disorders
Blood & Clotting Disorders
Blood Type
Cancer Genetics
Cardiovascular Diseases
Chromosome Abnormalities
Chromosome Abnormalities Found on Miscarriages
Chromosome Translocations
Connective Tissue Disorders
Consanguinity (related by common ancestor) and Degrees of Relation
Dental Abnormalities
Ear Abnormalities & Hearing Loss
Environmental Exposures
Eye Color and Genetic Diseases of the Eye
Fetal Abnormalities
Gender Determination & Gender Identity
General Genetics
Genetic Genealogy
Genetic Services
Genetic Testing
Genetic and Health Information in Foreign Languages
Hair
Intellectual Disabilities (eg. autism, mental retardation)
Lysosomal Storage Diseases
Mental Health
Microdeletion & Microduplication Syndromes
Miscellaneous
Mitochondrial Disorders
Multiple Congenital (present at birth) Anomalies
Neurogenetic Disorders
Newborn Screening
Pharmacogenetics (how genes affect drug response)
Prenatal Diagnosis and Assisted Reproduction
Recurrent Pregnancy Loss
Sex Chromosome Aneuploidy
Single Gene Disorders
Skeletal Abnormalities
Skin Disorders
Syndromes
Training in Genetics
Reload Page
Gender Determination & Gender Identity

Q&A about disorders characterized by defects in the differentiation of the reproductive organs, where the physical gender may differ from the genetic gender, such as androgen insensitivity syndrome (AIS), that are influenced in whole or part by genetic factors.

Other information about ambiguous genitalia:

-MedlinePlus

http://www.nlm.nih.gov/medlineplus/ency/article/003269.htm

Subtopics

Ambiguous genitalia (3)    Androgen Insensitivity Syndrome (AIS) (2)    No Sub-topic (12)    Showing 17 questions

Displaying: All questions - use the list above to filter results.
Question Date
hi im a resident physician here in the philippines. i need help regarding my patients condition, this is a case of a 3 month old baby at birth noted to have ambigous genitalia, cyanotic with overlapping of fingers rocker bottom feet with increase in head circumference. diagnostic was done were plvic utz confirming presence of testis, newborn screening revealing normal result. 2d echo- Tetralogy of fallot, cranial ct scan was done revealing White matter changes as seen in ischemia and periventricular leukomalacia prominent ventricles. Cavum septum pellucidum (normal Variant) we did cranial ultrasound because apparently we noted an increase in head circumference i cannot find a syndrome related to my patient can you help me Please I need it badly since i need to do my case report but i cannot find datas thank you... View Answer 2009-08-30
My husband's brother just had a baby with ambiguous genitalia. What is our risk of our children having adrenal problems. View Answer 2009-07-14
Hi, My son has been born with extremely ambigious genatalia, accompanied with a very small penis. We are told he is XY karyotyope and most likely has adrenal hypoplasia congenita. My question is can my son live a normal life as a male with this syndrome? ie play sport, interact with females, make friends have children etc etc. Also is this something he would have got from me and generally speaking what are the chances of future babies of ours having this. Some feedback on the topic from a general perspective would be appreciated as doctors have told us a certain diagnosis can not be made at least until our son is 1 yrs old, currently 8 mths. He also has respiratory problems, had IUGR, hypospadius and 3 months premature. View Answer 2008-10-27
I have heard it argued that the parental resemblance of a child is partly determined by when in the menstrual cycle a woman is inseminated. Specifically, if the sperm are present at the time of ovulation the child will resemble the father, and if the sperm are introduced while the ovum is already in the fallopian tubes the child will more likely resemble the mother. The rationale for this was given to me as below, I wonder if you could tell me whether it is accurate or not and if so what is meant by "activation of the male genes". "If spermatozoa are lodged long before ovulation then the activation of the male genes will be at a more advanced stage than those in the ovum, and therefore they will play a greater role in showing the characteristics gained from the father ? especially if these genes follow codominance (with variable penetrance) or have complex inheritance characteristics." View Answer 2008-04-26
Hi not sure if this is the place to ask but.... Am wondering about our chances of conceiving a girl. We have one son already Husband has 3 brothers 1 sister, His father 3 boys in his family, his mother 4 boys, 1 girl. One of his brothers has 2 boys. I have 2 sisters, (1 is my non-identical twin), no brothers. My mother has 5 sisters 1 brother. Am aware gender determined by male, wondering is there genetic predisposition to having more male than female sperm? Or if my backround has any influence? View Answer 2007-11-05
I recently heard a radio report of a study that claimed that women who lived in all-female households had a greater chance of bearing a child of a particular gender (i don't recall which one). Have you heard of this study and could there be any basis to this alleged phenomena? View Answer 2007-07-29
I am working with a child who has AIS, I am not sure if it is complete or partial. The child is being raised as female. She also has Duchenne muscular dystrophy. My question is, since her type of MS is rare for females is the child considered genetically to be male? Is it possible that she could have a mild form of MS, with less scary long term outlook? Would I expect the MS to progress the same whether she is male or female?? Thank you for your consideration. View Answer 2007-07-12
Looking for information on statistics with ambiguous genitalia and congenital genital defects in the United States. -Incidence rate of genital defects in 2005? -Incidence rate of AIS? Complete and partial -Incidence rate of hypospadias? -Incidence of CAH in males? View Answer 2007-07-02
My concerns go back to my childhood. During puberty my body started to devlop abnormally. My body started to feminize, physical characteristics of the opposite sex developed. Also only a partial progression through puberty. An Endocrinologist diagnosed me with idiopathic hypogonadotropic hypogonadism. Prescribed testosterone replacement so I would fully virilize through puberty. But my main concerns about my body, the feminization, were not diagnosed as doctors apparently could see nothing wrong. I insisited on seeing a geneticist where a karyotype was done which revealed 46xy/46x. The geneticists response to the result was very casual saying don't worry about it which obviously concerned me. I went to another geneticist who did the same test which revealed 46xy. I showed him the prior test result where he mentioned the possibility of chimerism/mosaicism. After another karyotype and skin biopsy was done it still revealed 46xy. His conclusion was the original test was a lab error. I don't believe it was. What advice can you give me on where to go from here?? View Answer 2007-02-20
I'm currently doing an assignment on the matter of transexualism and gender confusion. Is transexualism and gender confusion due to genetic disorder such as Klinefelter syndrome (or other genetic conditions) ? View Answer 2006-09-10
Hello, I'm submitting to ask you if currently, with what is known about genetics, is there a confirmed gene that, if modified, would directly cause a person to change sexual orientation? I understand that if certain genes are modified, a person could be more inclined to become homosexual, but I'm wondering if a gene could be directly affected to cause a change in orientation. View Answer 2006-07-10
I have Gender Dysphoria and after reading about Androgen Insensitivty Syndrome (AIS), I wondered if there was a link between the two as in my case, my brain wants to be female but alas my body is undoudtedly male. Could the same process in AIS be responsible albeit in a much milder form? View Answer 2006-06-30
What is the process for getting a sex chromosone test. I have reason to believe that I may have an intersex condition that was hidden from me since birth. View Answer 2006-04-01
Is homosexuality inborn? If yes, what are the chances that somebody would be a homosexual? I appreciate any and all responses. Thank you. View Answer 2006-02-23
why and how do men determine the sex of the child? View Answer 2005-11-07
I saw somewhere on a television program that all human fetuses startout as female and then need to develop further by a burst of testosterone in order to become male. I believe the sudden burst of testosterone came from a gene known as the SR2 gene which is only present on the Y chromosome; hence only male babies would witness this release of testosterone. I was just wondering if you could confirm these two statements? 1) all fetuses start out as female.2) release of testosterone via SR2 gene present on Y chromosome tofurther develop into a male baby. View Answer 2005-09-14
The women in my family have all had girls as the first child. On my husband's father's side, there have only been male births. Does that mean that the chance of my husband having a daughter is remote? View Answer 2005-09-14

Add to Favorites

Home About Site Map Disclaimer Terms of Use
Copyright © 2009 by Emory University. All rights reserved.