I.B.I.S.
International Birth Defects Information Systems
International Birth Defects Information Systems
Mission: Amelioration and Prevention of Birth Defects and Genetic Disorders
Sex or Gender Assignment
| Topics: | Sex or Gender Assignment | 46,XY gonadal dysgenesis | Abnormal Sex Differentiation | Androgen Insensitivity Syndrome | CAH Screening for Correct Sex Assignment | Congenital Adrenal Hyperplasia | Defining Sex | Determination of Gender | Females with XY Sexual Disorders | Gonadoblastoma | Hermaphrodite | Hermaphroditism (Cancer Risk) | Illustrations | Intersex Defined | Intersexual | Intersexuality | Male/Female A Polydimensional Continuum | Manifesto Intersex Support Group International | Mixed |
| Related Topics: | Hypospadias | Kallmann S | XXY Klinefelter S | |
| Service Related: | Support Groups | Professional Associations | Key Information Sources | |
| Languages: | English | Spanish | Ukrainian | |
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- On the word
ISNA, 2006
The word "hermaphrodite" is a stigmatizing and misleading word … Victorian doctors believed that the gonads were the seat of "true sex," … in the absence of any knowledge of genetics, endocrinology, or embryology -- which categorized people as "male pseudohermaphrodite," "female pseudohermaphrodite," … It's time to eliminate this quaint Victorianism from modern medical practice …
Category: Sex or Gender Assignment - Glossary of Medical Terms
Androgen Insensitivity Syndrome Support Group, 2007
germ cells: male (sperm) and female (egg) cells gonad: an organ that produces gametes (germ cells), especially a testis or ovary gonadectomy: surgical removal of the gonads … Mullerian ducts: either of two embryonic tubes that become the uterine tubes, uterus and part of the vagina in the female and that form the prostatic utricle in the male …
Category: Sex or Gender Assignment - Determination of Gender
University of Michigan Medical School, 1999
Although genetic sex (XX or XY) is determined at fertilization, the embryo's gender is not distinguishable for the first six weeks of development; this is known as the indifferent period of development … In both sexes … development an indifferent genital tubercle … and elongates to form a phallus … without influence of androgens, the phallus becomes the clitoris … urogenital folds become the labia minora, and the labioscrotal swellings become the labia majora … Hypospadias Incomplete fusion of the urogenital folds creates abnormal openings of the urethra ... If the two paramesonephric ducts fail to fuse correctly it can result in duplication of the uterus ... (double uterus and double vagina). If one paramesonephric duct fails to develop … single horn of the uterus (unicomuate uterus). Failure of the testes to descend into the scrotum (cryptorchidism) … Rare true hermaphrodites have both ovarian and testicular tissues, usually possessing a 46,XX karyotype … Female pseudohermaphrodites are more common, possessing a 46, XX karyotype … result from exposure to excess androgens during embryologic development (as in congenital virilizing adrenal hyperplasia). Male pseudohermaphrodites have testes and a 46, XY karyotype … results from an inadequate production of androgens …
Category: Sex or Gender Assignment - Genetics for Theologians: Male/Female A Polydimensional Continuum
Roberta M. Meehan, PhD., Greeley, Colorado College Science Educator and Biological Science Writer (archived)
Discussion # 1 We are discussing "male/female" … terms apply to the human condition and not as they apply to linguistics and semantics … My plan is to present a series of commentaries on my perceptions of this male/female continuum … To begin this discussion on Chromosomes and the Continuum, I think it is important to first define a few terms … "SEX" usually refers to reproductive differences … "Gender" is one of those terms that really should be divided into about 3 or 4 different words. However, we are stuck with one word that has a variety of overlapping meanings. In biology, "gender" usually refers to man/woman -- and is thus a more restrictive term than "sex". However, "gender" can be used synonymously with "sex" when referring to humans and other higher level species ... gender is a grammatical identification and means masculine/feminine but has very little to do with male/female -- except in some cases … SOCIETAL SEX (often called by any of several other names) is determined after birth -- i.e., how is the person raised (male or female or intersex), what are the social and cultural mores, etc. For our purposes, societal sex deals with society's identification of the individual … Could such a person (particularly the XO/XY person) be ordained? ... As a sidelight, the Olympic Committee (as of 1991) no longer tests for chromosome compliments but does rely on visual examination to determine whether a person is male or female … There probably are quite a few priests who are XXY … Genetic anomalies do not make human beings less human, though sometimes these anomalies make them less reproductively capable. And why should reproductive capability be a criterion for ministerial capability? Sexual dichotomy does NOT exist for the survival of the individual. Sexual dichotomy does NOT exist either for the ministerial goals of the individual or the ministerial goals of the species. Sexual dichotomy does NOT exist for the perpetuation of the Kingdom of God in any way other than to assure that all life is included. Sexual dichotomy is a biological phenomenon assuring the survival of the species; it is not a prerequisite for ministry -- which is a human (though not biological) phenomenon.
Category: Sex or Gender Assignment - Related Conditions
Androgen Insensitivity Syndrome Support Group, June 9, 2006
The pathway towards a female form seems to be the default for humans, while the path for development of a male fetus is more tortuous, and dependent on many different genes … there is a set of a fairly varied conditions in which a fetus with XY chromosomes develops as a baby girl. Among these are: Failure of formation of testes … (i.e. pure XY gonadal dysgenesis or Swyer syndrome, XO/XY mosaicism, testicular regression syndrome, Denys-Drash syndrome, WAGR, Campomelic dysplasia and SF - 1 mutation). Underdevelopment of cells in testes due to unresponsiveness to hormones … Leydig cell agenesis or hypoplasia. Inborn errors of testosterone biosynthesis … Defects in androgen - dependent target tissues (i.e. AIS) AIS is the most common and … the best known of these conditions and is described on other pages … “Umbrella” Term (MPH) These “XY female” conditions have been grouped by doctors under an umbrella term called “male pseudo - hermaphroditism” (MPH) … hangover from a time before modern genetic testing became available … However … there is no other commonly used term … male prefix … refers to the medical notion that the main determinant of the maleness is the presence of testes, and hermaphroditism refers to … outwardly female patient … Mis - Diagnosis … few doctors will have come across sufficient patients to enable them to fin - tune the diagnosis … Importance of Correct Diagnosis … very important in governing treatment decisions. For example, in non - AIS conditions the body will be fully responsive to androgens … Failure of Formation of Testes … also known as “dysgenic pseudo - hermaphroditism” … thought of as a failure of the development of testes in the presence of XY chromosomes … Swyer Syndrome … “pure XY gonadal dysgenesis,” is the name given to a condition in which individuals possess a 46XY karyotype and female external genitalia. Women with Swyer’s syndrome have no ovaries or testes, but have “streak” … Swyer individuals have a normal vagina and uterus (the so - called Mullerian structures) … menstruation does not occur naturally … Hormone replacement causes increase in breast size and underarm and public hair, and menstruation is possible if the proper hormone regime is followed. In some cases, streak gonads develop tumors which produce hormones, thereby resulting in modest breast and public hair development and minor menstrual spotting. Removal of the streak gonads is carried out to minimize the risk of cancerous growths … Since Swyer syndrome women posses a uterus they can get pregnant, through implantation of a fertilized donated egg in an in vitro fertilization procedure. As they lack ovaries, they do not ovulate. Swyer syndrome may result from a deletion along the Y chromosome, or a mutation in the SRY, the sex determining region on the Y chromosome, or from a mutation in another gene that affects the function of the sex determining region genes on the Y chromosome … XO/XY Mosaicism Turner syndrome is a condition in which a person has a single X sex chromosome and no Y chromosome … Turner syndrome is very distinct from AIS, and is unlikely to mistaken for AIS. However, there are patients who have a mixture of 45,X and 46 XY cells in their bodies, resulting in a condition known as 45,X/46,XY mosaicism, or "mixed gonadal dysgenesis", which has the potential to be mistaken for PAIS … Testicular Regression Syndrome … Vanishing Testis Syndrome … Underdevelopment of Leydig Cells … produce testosterone (called Leydig cells) do not develop properly. This condition is known as Leydig Cell Hypoplasia … Inborn Errors of Testosterone Biosynthesis There are several enzymes that are part of the usual process of testosterone synthesis …
Category: Sex or Gender Assignment - Androgen Insensitivity Syndrome Support Group (AISSG) Registered UK
Androgen Insensitivity Syndrome Support Group, October 19, 2004
AIS is a condition that affects the development of reproductive and genital organs. Both men and women usually have at least one X chromosome, which contains a gene that gives their bodies the capacity to recognize and react to masculinizing hormones (androgens and the inhibition of female internal organ development. Women with AIS have a functioning Y chromosome (and therefore no female internal organs), but an abnormality in the X chromosome that renders the body partially or completely incapable of recognizing the androgens produced, therefore allowing the default external genital development along female lines ... Illness is the experience of living through the disease … are a support group providing information … Androgen Insensitivity Syndrome … We also support those affected by Swyer’s syndrome (XY gonadal dysgenesis), 5 alpha - reductase deficiency, leydig cell hypoplasia, Mayer - Rokitansky - Kuster - Hauser (MRKH) syndrome, Mullerian dysgenesis, Mullerian duct aplasia, vaginal atresia, and other related conditions …
Category: Sex or Gender Assignment - MANAGEMENT of INTERSEXUALITY
Milton Diamond, Ph.D. et al., The UK Intersex Association, 1997
Guidelines for dealing with individuals with ambiguous genitalia Asking for specific guidelines on how to manage cases of traumatized or ambiguous genitalia. Below we offer our suggestions. We first, however, add this caveat: These recommendations are based on our experiences, the input of some trusted colleagues, the comments of intersexed persons of various etiologies and the best interpretation of our reading of the literature. Some of these suggestions are contrary to today’s common management procedures … Foremost, we advocate use of the terms “typical”, “usual” or “most frequent” where it is common to use the term “normal” … avoid expressions like maldeveloped or undeveloped, errors of development, defective genitals, abnormal, or mistakes of nature … 1. In all cases of ambiguous genitalia, to establish most probable cause … Genetic and endocrine evaluations are usually needed … Pelvic ultrasonography … assessment of immediate and extended family … Hospitals … House Stuff Operating Procedures to be followed in such cases … all births be accompanied by a full genital inspection. Many cases of intersex go undetected. 2. Immediately, and simultaneously with the above, advise parents of the reasons for the delay. Full and honest disclosure is best and counseling must start directly … 3. The child’s condition is nothing to be ashamed of … 4. In the most common cases, those of hypospadias and congenital adrenal hyperplasia (C.A.H.) diagnosis should be rapid and clear … 5. The sex of assignment, when based on the nature of the diagnosis rather than only considering the size of functionality of the phallus … In the majority of cases this sex of assignment will indeed be in concert with the appearance of the genitalia … In certain childhood situations, however, such assignment will be counter to the genital appearance … Rear as male - XY individuals with Androgen Insensitivity Syndrome … Grades 1 - 3) - XX individuals with Congenital Adrenal Hyperplasia - (C.A.H.) with extensively fused labia and a penile clitoris - XX individuals with Hypospadias … - XY individuals with Micropenis … Rear as female - XY individuals with Androgen Insensitivity Syndrome - (A.I.S.) (Grades 4 - 7) - XX individuals with Congenital Adrenal Hyperplasia - (C.A.H.) with hypertrophied clitoris … 6. While sex determination is ongoing, the hospital administration can wait for a final diagnosis before entering a sex of record … refer to the child as “Infant Jones” … “Baby Brown” … 7. Perform no major surgery for cosmetic reasons only … parents who will want their children to “look normal”. Explain to them that appearances during childhood, while not typical for other children, may be of less importance than functionally and post pubertal erotic sensitivity of the genitalia … 8. In rearing, parents must be consistent in seeing their child as either a boy or girl; not neuter … intersex is … not yet a commonly accepted social designation … 10. Be clear that the child is special and … 12. Maintain contact with family … 14. Counseling must include developmental sequelae to be anticipated … 16. As early as possible put the family in touch with a support group … 17. Keep genital inspection to a minimum … 18. Let the child … know that help is available if needed. Listen to the patient; even when as a child … 19. As puberty approaches be open and honest … 21. Most intersex conditions can remain without any surgery at all … FINAL COMMENT … many of those who have had genital surgery or been sex reassigned neonatally have complained bitterly of the treatment. Some have sex reassigned themselves …
Category: Sex or Gender Assignment - A Single Word: Stop!
Deborah E. Brown, Intersex Support Group International
If there were only one word I could give to parents of a child born with ambiguous genitalia (intersexual, hermaphrodite, Androgen Insensitivity Syndrome, et al), that word would be: Stop! Repeat after me, ''STOP!'' When the doctors say, "Your child could never function as a male/female, so we suggest that we cut..." Say ''STOP!'' When an expert surgeon is brought in to tell you that your child has malformed genitals, that she/he needs adjustment, and now is the best time to do it. Say ''STOP!'' … As much as every parent wants to bring home a girl, or a boy, your child may not be distinctly either. Often immediate corrective procedures are necessary for the life of the child. When well meaning clinicians attempt to make a package deal, say ''STOP!'' Early invasive treatments literally change the destiny, the identity, the 'me' of your child. It is OK to wait. Gender assignment (mutilation) is NOT COSMETIC SURGERY! It is OK to wait and see who the 'me' your child turns out to be, and then bring your child into the decision loop … For too long, the unyielding demands of people claiming the name of Christ have over - ridden the real love and understanding of our Creator and Lord. Acknowledged in scriptures, both old and new testaments, persons born with ambiguous or no - existent genitalia have been promised special blessing, ( Isaiah 56:3 - 5), as well as understanding of their peculiar relationship in a two - gendered society, (Matthew 19:11 - 12) … As intersexuals we have been created unique by God. Deus Unicus Creatus
Category: Sex or Gender Assignment - A Reassessment of “sex assignment”
Susan J. Bradley et al., Hospital for Sick Children, Toronto, Ontario, Canada, PEDIATRICS Vol. 102 No. 1 July 1998, p. e9
Experiment of Nurture: Ablatio Penis at 2 Months, Sex Reassignment at 7 Months, and a Psychosexual Follow - up in Young Adulthood Guidelines of psychosexual management for infants born with physical intersex conditions … sex assignment should be to the gender that carries the best prognosis for good reproductive function, good sexual function, normal - looking external genitalia and physical appearance, and a stable gender identity … decision regarding sex assignment should be made as early as possible … there should be minimal uncertainty and ambiguity on the part of parents … J. Money used these guidelines in a case of a biologically normal male infant (one of a pair of monozygotic twins) whose penis was accidentally ablated during a circumcision at the age of 7 months. The decision to reassign the infant boy to the female sex and to rear him as a girl was made at 17 months, with surgical castration and initial genital reconstruction occurring at 21 months … the girl was described as having may “tomboyish” behavioral traits, a female gender identity had apparently differentiated. Thus, it was concluded that gender identity is sufficiently incompletely differentiated at birth as to permit successful assignment of a genetic male as a girl, in keeping with the experiences of rearing. Subsequent follow - up by other investigators reported that by early adolescence the patient had rejected the female identity and began to live as a male at the age of 14 years. In adulthood, the patient recalled that he had never felt comfortable as a girl and his mother reported similar recollections. At age 25, the patient married a woman and adopted her children. The patient reported exclusive sexual attraction to females. The present case report is a long - term psychosexual follow - up on a second case of ablatio penis in a 46,XY male. During an electrocautery circumcision at the age of 2 months, the patient sustained a burn of the skin of the entire penile shaft, and the penis eventually sloughed off. At age 7 months, the remainder of the penis and the testes were removed. By age 7 months, if not earlier, the decision was made to reassign the patient as a female and to raise the infant as a girl … At ages 16 and 26, the patient was living socially as a woman and denied any uncertainty about being a female … she was attracted predominantly to women in fantasy … she was in a relationship with a man and wished to be able to have intercourse. The patient’s self - described sexual identity was “bisexual” … began … lesbian relationship …
Category: Sex or Gender Assignment - Manifesto
Intersex Support Group International
Intersex Support Group International was established BY and FOR persons whose bodies were born with a physiological or genetic characteristic which has been diagnosed as Intersexual … That consequence is not God’s will …
Category: Sex or Gender Assignment
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