SEXUAL HEALTH Genetic, Developmental Flashcards
Cryptorchidism
A condition in which one or both of the testes fail to descend from the abdomen into the scrotum.
SYMPTOMS: Not seeing or feeling a testicle where you would expect it to be in the scrotum is the main sign of an undescended testicle. Testicles form in the abdomen during fetal development
CAUSE: The exact cause of an undescended testicle isn’t known. A combination of genetics, maternal health and other environmental factors might disrupt the hormones, physical changes and nerve activity that influence the development of the testicles
Epispadias
A rare birth defect located at the opening of the urethra. In this condition, the urethra does not develop into a full tube, and the urine exits the body from an abnormal location. The causes of epispadias are unknown. It may be related to improper development of the pubic bone.
SYMPTOMS: Abnormal opening from the joint between the pubic bones to the area above the tip of the penis.
Backward flow of urine into the kidney (reflux nephropathy)
Short, widened penis with an abnormal curvature.
Urinary tract infections.
Widened pubic bone.
CAUSE: The causes of epispadias are unknown. It may be related to improper development of the pubic bone. In boys with epispadias, the urethra generally opens on the top or side of the penis rather than the tip. However, it is possible for the urethra to be open along the entire length of the penis.
Fragile X Syndrome
A genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2.
SYMPTOMS: Learning disabilities.
Low intelligence quotient (IQ). …
Delayed early developmental milestones. …
Delayed development of nonverbal communication such as using gestures, body language and facial expressions.
Problems with math.
Language processing.
CAUSE: Fragile X syndrome (FXS) is a genetic disorder. FXS is caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1 (FMR1). FMR1 usually makes a protein called FMRP that is needed for brain development. People who have FXS do not make this protein.
Hypospadias
A birth defect in boys in which the opening of the urethra is not located at the tip of the penis. In boys with hypospadias, the urethra forms abnormally during weeks 8–14 of pregnancy. The abnormal opening can form anywhere from just below the end of the penis to the scrotum.
SYMPTOMS: Opening of the urethra at a location other than the tip of the penis.
Downward curve of the penis (chordee)
Hooded appearance of the penis because only the top half of the penis is covered by foreskin.
Abnormal spraying during urination.
CAUSE: The causes of hypospadias in most infants are unknown. In most cases, hypospadias is thought to be caused by a combination of genes and other factors, such as things the mother comes in contact with in her environment, or what the mother eats or drinks, or certain medications she uses during pregnancy.
Imperforate Hymen
A half moon of thin membrane normally surrounds the opening of a young girl’s vagina. In the case of an imperforate hymen, a membrane extends all the way across the area of the hymen, blocking the vaginal opening. It is easily corrected through a minor surgery.
SYMPTOMS: Common symptoms include: lack of a first menstrual cycle. abdominal pain, back pain, or difficulty with urination at the time of her first period when the blood backs up in the vaginal canal.
CAUSE: An imperforate hymen may occur during embryological development when the hymenal membrane doesn’t form properly. After an imperforate hymen is successfully removed, your daughter will have menstrual flow and should be able to use tampons.
Klinefelter Syndrome
(sometimes called Klinefelter’s, KS or XXY) is where boys and men are born with an extra X chromosome. Chromosomes are packages of genes found in every cell in the body. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby.
SYMPTOMS: Taller than average stature.
Longer legs, shorter torso and broader hips compared with other boys.
Absent, delayed or incomplete puberty.
After puberty, less muscle and less facial and body hair compared with other teens.
Small, firm testicles.
Small penis.
Enlarged breast tissue (gynecomastia)
CAUSE: Klinefelter syndrome is caused by an additional X chromosome. This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual
Paraphimosis
A common urologic emergency that occurs in uncircumcised males when the foreskin becomes trapped behind the corona of the glans penis. This can lead to strangulation of the glans and painful vascular compromise, distal venous engorgement, edema, and even necrosis.
SYMPTOMS: The main symptom of paraphimosis is the inability to return the foreskin back to its normal position over the tip of the penis. The foreskin and the tip of the penis may be swollen and painful. The tip of the penis may also be dark red or blue due to a lack of blood flow.
CAUSE: Paraphimosis often happens when you pull back the foreskin to clean under it or if you’re trying to stretch the foreskin due to the foreskin being too tight. It can also happen if the foreskin is moved for something like a catheterization to drain urine or another type of medical procedure on the penis
Phimosis
(Tight foreskin) The inability to retract the skin (foreskin or prepuce) covering the head (glans) of the penis. Phimosis may appear as a tight ring or “rubber band” of foreskin around the tip of the penis, preventing full retraction.
SYMPTOMS: swelling and tenderness.
pain when peeing or a weak flow of pee.
blood in urine.
frequent urinary tract infections (UTIs)
bleeding or a thick discharge from under the foreskin or an unpleasant smell – these are signs of an infection (balanitis)
CAUSE: Inflammation or an infection of the foreskin or the head of the penis (glans) may cause phimosis in boys or men. Balanitis is an inflammation of the glans. It’s sometimes the result of poor hygiene or an infection of the foreskin. One of the infections that can lead to balanitis is called lichen sclerosus.
Pseudohermaphroditism
A person whose gonads are consistent with the chromosomal sex but who has external genitalia of the opposite sex. Male pseudohermaphrodites have normal testes but incomplete masculinization of the wolffian duct system and external genitalia.
SYMPTOMS: Genetic females (46:XX) with this disorder have masculinized external genitalia, especially an enlarged clitoris. Later, these individuals may have early puberty, excess facial hair, irregular periods, and infertility. Males can also inherit this disorder, but sexual development is usually normal.
CAUSE: Congenital adrenal hyperplasia (CAH), mostly 21-hydroxylase deficiency, is the most common cause. Maternal androgen excess due to maternal ovarian tumor or drug intake also causes female pseudohermaphroditism.
Septate Vagina and Uterus
A congenital anomaly where a membrane runs down the middle of the uterus, splitting it into two parts. This membrane is called the septum and it can vary in thickness and length. It starts at the top of your uterus and can extend to your cervix (bottom of the uterus) and occasionally to the vagina. A septate uterus is when your uterus is divided into two parts by a membrane called the septum. It’s a condition present at birth that can only be corrected with surgery.
SYMPTOMS:
Frequent miscarriages.
Painful menstruation.
Pelvic pain.
CAUSE: Septate uterus is a genetic abnormality. It’s not known what causes it to occur. It happens as the embryo is developing. All uteri begin development as two tubes that eventually fuse and become one uterus at the midline of the body.
Turner Syndrome
A condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
SYMPTOMS: a particularly short, wide neck (webbed neck)
a broad chest and widely spaced nipples.
arms that turn out slightly at the elbows.
a low hairline.
teeth problems.
a large number of moles.
small, spoon-shaped nails.
a short 4th finger or toe.
CAUSE:
Occurs when part or all of an X chromosome is missing from most or all of the cells in a girl’s body. A girl normally receives one X chromosome from each parent. The error that leads to the missing chromosome appears to happen during the formation of the egg or sperm
