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These are some terms you may hear in a discussion about your child’s DSD. If at any time you hear a term or concept that you don’t understand, ask a doctor or other medical professional to write down the word (so you can see how it is spelled) and to explain it. All the words in italics (slanted letters like this) within these definitions are terms that are defined elsewhere in this list. The list is in alphabetical order.
The adrenal glands, located above the kidneys, are the pair of glands that are responsible for secreting various hormones, including androgens.
This means working with a child in a way that works with her or his level of understanding. For example, if you’re talking with a child about going to the doctor, it would be “age-appropriate” with most three-year-olds to use a stuffed animal to explain what’s going to happen at the doctor’s office, but not age-appropriate to do the same with an intelligent teenager. Parents should not “dumb down” things unnecessarily, but they should also be careful not to talk over the head of their children.
Androgens are hormones (molecules or chemical messengers) made mostly by the testes, but also made to a lesser extent in the adrenal glands located above the kidneys, and in the ovaries. They stimulate male reproductive organ (sex organ) development and secondary sex characteristics such as facial hair and lower pitch of voice. The two major types of androgens involved in sex development are testosterone and dihydrotestosterone.
A scrotum that is separated by a deep cleft or groove into two parts.
See Mullerian inhibiting substance.
A curving of the penis that can cause very painful erections. Pronounced like "cord ee" (the h is silent).
These are the long strands of tightly curled DNA that reside within the nucleus of all cells (except red blood cells). Each cell in your body has a full set of your chromosomes. The chromosomes contain the body’s genes, which are specific segments of DNA that contain the messages for the cell to create proteins, some of the building blocks of life. So the chromosomes have the genes, and the genes code for the proteins, and the proteins form things like blood, skin, and other organs. Most people have 46 chromosomes in each cell: that includes 22 pairs (which scientists number 1 to 22, from largest to smallest) of closely matching chromosomes (one of each pair from each parent) called autosomes. In addition to those 22 pairs, most people have two additional chromosomes that may or may not match, and these are called the “sex chromosomes.” Instead of being numbered like the autosomes are, the sex chromosomes are designated by the letters X and Y, because they kind of look like an X and a Y. Most females have two so-called X chromosomes, and so we say they have the karyotype 46,XX; the number 46 tells you they have 46 chromosomes total, and the “XX” tells you that two of those chromosomes are X chromosomes. Most males have one X chromosome and one Y chromosome, and so we say they have the karyotype 46,XY (46 chromosomes, including one X and one Y). However, there are many other patterns of chromosomes. Some people have an extra X or Y, some are missing an X, some females have a Y chromosome and some males have two X’s. The “sex chromosomes” are somewhat misnamed, because, although they are usually different between males and females, they are not by themselves responsible for whether a person develops as a male or female. There are many genes carried on many other chromosomes (autosomes) that are also responsible for development of the gonads and other sex aspects. There are also some genes on the X chromosome that don’t have anything to do with sex development. It’s critical to understand that “sex chromosomes” do not determine a person’s gender identity or sexual orientation.
A cosmetic surgery is one that only affects appearance, rather than making a body part work better or curing an illness.
This usually means the name of a cause of a DSD (for instance, “congenital adrenal hyperplasia” or "complete androgen insensitivity syndrome”). Doctors decide on a diagnosis by considering the signs and symptoms, the family history, and the results of various tests. In many cases, it is not possible to arrive at a definite cause. In that case, doctors may use a descriptive word, like “ambiguous genitalia” for the diagnosis.
A “strong” androgen (male sex hormone) made in the tissues of the genital region, by converting testosterone into dihydrotestosterone.
When a less common path of sex development is taken, the condition is often called a “disorder of sex development” or DSD. DSD happen in animals as well as humans. See Chapter 1 WELCOME TO PARENTS and Chapter 5 HELPFUL HANDOUTS for more explanation.
An elective medical procedure is one that is not immediately needed, so the patient, rather than the doctor, can choose whether or not to have the procedure.
Estrogens are hormones (molecules, or chemical messengers) mainly produced in the ovaries, but also produced to a lesser extent in the adrenal glands and testes. They are responsible for certain types of secondary sex characteristic, like breast development. Estrogens are also responsible for female reproductive processes like helping to regulate the menstrual cycle.
While “sex” usually refers to a person’s physical anatomy, the term “gender” usually refers to mental, social, and cultural characteristics, regardless of anatomy, related to being a boy, girl, man, or woman in our society. See Chapter 2 YOUR CHILD’S DEVELOPMENT, AND HOW TO TALK WITH YOUR CHILD and Chapter 4 ANSWERS TO COMMON QUESTIONS for more discussion of this.
When a child is born with a DSD and his or her sex is unclear, the child is given a “gender assignment,” which means the parents decide whether to raise the child as a boy or a girl. Gender assignment is a system of labeling a child and treating a child as a boy or a girl. (For this reason, no surgery is required for gender assignment.) See Chapter 2 YOUR CHILD’S DEVELOPMENT, AND HOW TO TALK WITH YOUR CHILD and Chapter 3 HOW TO TALK WITH OTHERS for more discussion of this.
A person’s innermost sense of himself or herself as boy or man, girl or woman. This is not simply determined by “sex chromosomes,” by surgery, or by how a child is raised. It is also not chosen by an individual. See Chapter 2 YOUR CHILD’S DEVELOPMENT, AND HOW TO TALK WITH YOUR CHILD and Chapter 4 ANSWERS TO COMMON QUESTIONS for more discussion of this.
A part that a person plays as a boy, girl, man, or woman in our society. So, for example, being a mother is a gender role.
No matter how they end up in terms of sex development, all embryos have genital folds early in the womb, prior to sex development. These folds later develop into the labia majora in most girls and the scrotum in most boys. Children with DSD sometimes have external genital structures that look in-between labia and scrotum.
Present in all embryos in early development, the genital tubercle is a structure of the external genitalia that develops into the phallus (in other words, the clitoris or penis).
Common in all embryos prior to sex development, gonadal ridges consist of tissue that develops into gonads (ovaries, testes, ovotestes, or gonadal streaks).
Gonadal streaks are poorly developed gonad tissue present in place of testes or in place of ovaries in some people with DSD.
"Gonadectomy" means to perform surgery to remove the sex glands (ovaries, testes, or ovotestes).
“Gonads” is a general term for the sex glands. The term “gonad” can refer to an ovary, a testis (testicle), an ovotestis, or a streak gonad. Mature ovaries usually release eggs until menopause, while mature testes usually produce sperm. In addition, the gonads release hormones that affect the development of the reproductive organs at puberty and affect other physical traits that, after puberty, usually make men and women look different, such as pitch of the voice and body shape and size.
Gynecomastia refers to the enlargement of a man’s breasts, usually due to a hormone imbalance or to hormone treatments.
Hormones are molecules that carry messages from one group of cells to another through the blood, stimulating (“waking up”) some body processes and inhibiting (“shutting down”) others. Reproduction, growth, sleep, libido (sex drive), and hunger are a few of the things that are affected by various hormones. Hormones are produced by many organs and body tissues but mainly by the endocrine (hormone) glands, which are the pituitary, the thyroid, the adrenal glands, and the gonads (testes and ovaries). Estrogens and testosterone are two types of sex hormones.
Intersex is a term sometimes used to refer to the condition of having a sex anatomy that is not considered standard for a male or a female. Like disorders of sex development, it is an umbrella term that covers many different conditions that appear in humans as well as other animals. The term is often used by adults with DSD to talk about their bodies and their experiences. Using the general term “intersex” has allowed many adults with different kinds of DSD to come together and work for progress in the way families with DSD are treated.
A karyotype is a picture of the chromosomes in a cell. A karyotype is used to see what kinds of chromosomes a person has. It is created by taking a blood or tissue sample from a person, and then staining the chromosomes with dye and photographing them through a microscope. The photograph is then cut up and rearranged so that the chromosomes are lined up into corresponding pairs. The result is usually reported as the number and type of a person’s chromosomes, such as 45,X (the individual has 22 pairs of matched chromosomes and one X chromosome); 46,XX (the individual has 22 pairs of matched chromosomes and two X chromosomes; 46,XY (the individual has 22 pairs of matched chromosomes), one X chromosome and one Y chromosome); 47, XXY, etc.
A person is said to have a “mosaic karyotype” when he or she has one kind of karyotype in some of his or her cells, and a different karyotype in other cells. An example is when a person is said to have a 45,X/46,XX karyotype; that means he or she has 46,X in some cells, and 46,XX in other cells. Mosaicism happens because sometimes cells divide incorrectly early in the life of an embryo.
Present in all embryos in early development, in most females the Mullerian ducts develop into the uterus, fallopian tubes, and the upper part of the vagina.
Also called anti-Mullerian hormone. A hormone normally produced by the testes in the early stages of male fetal development that prevents the Mullerian ducts from developing into the fallopian tubes, uterus and upper part of the vagina.
If a multidisciplinary team meets together on a regular basis to provide “one stop shopping” (meaning one-stop care) for families with DSD, that is called a multidisciplinary clinic. Major medical centers sometimes have multidisciplinary clinics for DSD. The advantage of this is that it often simplifies medical care and generally ensures that your child’s doctors and counselors are talking with each other and working together. (It does not guarantee the best care.)
Multidisciplinary team care happens when a team of medical specialists at a medical center helps a child with a DSD and his or her family. Multidisciplinary teams that treat DSD may include a child psychologist and/or child psychiatrist, a geneticist, a genetic counselor, a pediatric or adolescent gynecologist, nurses, a pediatric endocrinologist, a pediatric urologist, a social worker, and other specialists as needed. They may operate a multidisciplinary clinic.
Osteoporosis means that the bones lose their density. They become brittle and weak. Osteoporosis doesn’t hurt—you can’t feel anything happening—until your bones get so weak that they break easily. Steroid hormones (sex hormones produced by ovaries or testes, or taken as medicine) are necessary to prevent osteoporosis.
The ovaries are the female gonads (sex glands) located in the lower abdomen of most girls and women, usually one on either side of the uterus. The ovaries have two basic functions, ovulation and the production of hormones, mainly estrogens and progesterone which influence a woman’s feminine physical characteristics and affect the reproductive process.
Ovotestes are gonads (sex glands) containing both ovarian and testicular tissue. These are sometimes present in place of one or both ovaries or testes in people with DSD.
A pediatric endocrinologist is a children’s doctor who specializes in the endocrine system, commonly known as the hormonal system.
A pediatric urologist is a children’s doctor specializing in the reproductive organs (sex organs) and the organs of the urinary system.
A line (like a groove or a seam) in the body where two halves developed before birth and fused together. The line along the underside of a penis that runs from the tip of the penis to the anus is called the penile raphe (along the penis) or the scrotal raphe (along the scrotum). This raphe reminds us that before birth, male and female genitals start out looking the same. In most male genitals, the two sides fuse together, leaving a line down the middle.
These are changes that typically occur at the time of puberty. (See Chapter 2 YOUR CHILD’S DEVELOPMENT, AND HOW TO TALK WITH YOUR CHILD for more on puberty.) They can include body hair growth, change in pitch of voice, genital growth, breast development, muscle development and growth of the Adam’s apple.
Sex usually specifically refers to a person’s physical anatomy as female, male, or intersex. See Chapter 2 YOUR CHILD’S DEVELOPMENT, AND HOW TO TALK WITH YOUR CHILD for more information about how sex is different from gender and sexual orientation.
This is the term for the step-by-step changes that relate to the biological (physical) features of a person’s sex. The development of sex begins at conception with the combining of sex chromosomes from the mother’s egg and the father’s sperm. Sex development continues in the womb with the prenatal development of the internal sex organs (including the gonads) and the external sex organs (like the penis, clitoris, labia, and scrotum). For most people, sex development continues naturally little by little through all stages of life, including most noticeably at puberty (which brings many changes including altered sexual arousability, fat distribution, voice pitch, hairline, pubic, underarm, and body hair, genital and nipple appearance, breast development, skin oil and texture, and body odor) and at menopause. For more on sex development, see the section called “What Are DSD?” and Chapter 2 YOUR CHILD’S DEVELOPMENT, AND HOW TO TALK WITH YOUR CHILD.
The process by which males and females grow to be different from each other. Until about seven weeks after conception, all embryos regardless of their chromosomal makeup have the same structures of the gonads and genitalia (genital folds, genital ridges, genital tubercles, Mullerian ducts, and Wolffian ducts). Most develop according to what is considered standard for males or females, but some develop differently. See Chapter 1 WELCOME TO PARENTS and Chapter 5 HELPFUL HANDOUTS for more information.
This refers to whether an individual is sexually attracted to men or women or both. If a person is identified as a man and is attracted to a man, he is said to be homosexual. If a person is identified as a woman and is attracted to men, she is said to be heterosexual. Most people in fact have complex sexual orientations; that is, their sense of sexual attraction goes beyond just other people’s gender identities. People do not choose their sexual orientations, though they do choose whether to act on their sexual desires. See Chapter 2 YOUR CHILD’S DEVELOPMENT, AND HOW TO TALK WITH YOUR CHILD, Chapter 3 HOW TO TALK WITH OTHERS and Chapter 4 ANSWERS TO COMMON QUESTIONS for more about this.
A social worker is a mental health professional who can offer support and counseling. The social worker knows much about children’s psychological and emotional development, and how to help families when there is a medical or social issue in a family. Social workers in the clinical setting help to connect families to resources inside and outside the medical facility. They often know much about how to deal with bullying, how to navigate school systems, and so on.
The testes (also called testicles) are the male-typical gonad (sex gland), usually located in a scrotum. Mature testes typically produce sperm, though this is not the case with some DSD. Before and after puberty, the testes produce the hormone testosterone which is responsible for the development of the male reproductive organs and the male-typical secondary sex characteristics.
See testes.
Testosterone is the main male sex hormone that is produced in the testes. One of its functions is to stimulate (“wake up”) the development of the male internal genital structures in the fetus. Testosterone is converted in the external genital tissues to a stronger hormone, dihydrotestosterone, to cause male development of the external genitals. It is also produced during a brief period in early infancy, then again at puberty, when it stimulates enlargement of the penis, deepening of the voice and other typical features of male secondary sex characteristics. During adult life it is responsible for maintenance of male-type body structure and is involved in sex drive (libido) and sexual function.
Present in all embryos early in development, the urethral folds typically develop into the labia minora in females and the urethra and the shaft of the penis in males.
This is the organ that typically connects with the vagina in females. It is located in the pelvic region and is where babies develop, and is also the source of menstrual flow.
Present in all embryos in early development, the Wolffian ducts typically develop in males into the vas deferens, the epididymis, and the seminal vesicles. The vas deferens is the passageway that carries sperm from the epididymis to the ejaculatory duct. The epididymis is an organ located on the testes that has passageways (ducts) that carry sperm from the testes to the vas deferens. The seminal vesicles are glands that produce the fluid component of semen.
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| Appendix A KEY TO PHOTOGRAPHS |  | REFERENCES |
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