Amenorrhea: Primary Amenorrhea
DefinitionPrimary amenorrhea is defined as failure to establish normal menstruation by the age of 18 in presence of normal secondary sexual characteristics or by the age of 16 in the absence of secondary sexual characteristics.
Normal secondary sexual characteristics are
theralche which is the normal development of the breast,
pubarche which represent the normal development of the mons veneris as well as the pubic hair and
menarche which represents the onset of menstruation.
On the other hand virilizating secondary sexual characteristics include the followings
Enlargement of the clitoris.
Hirsutism which is defined as excessive growth of the hair
Deepening of the voice
Mail type baldness.
Primary amenorrhea in the absence of secondary sexual characteristics
Turner syndrome
Definition:
Turner syndrome is a genetic condition that occurs only in females. Female cells normally have two X chromosomes. In Turner syndrome, cells are missing all or part of an X chromosome.
Causes, incidence, and risk factors:
Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. Two of these chromosomes, the sex chromosomes, determine if you become a boy or a girl. Females have two of the same sex chromosomes, written as XX. Males have an X and a Y chromosome (written as XY).
In Turner syndrome, a female does not have the usual pair of two complete X chromosomes. Most commonly, the female patient has only one X chromosome. Others may have two X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with two X chromosomes, but other cells have only one.
Turner syndrome occurs in about 1 out of 2,000 live births.
Kallmann syndrome
Definition:
Hypogonadotropic hypogonadism describes absent or decreased function of the gonads -- the male HYPERLINK "http://www.umm.edu/ency/article/002334.htm" testes or the female ovaries. It results from the absence of the gonadal stimulating pituitary hormones HYPERLINK "http://www.umm.edu/ency/article/003710.htm" FSH (follicle stimulating hormone) and HYPERLINK "http://www.umm.edu/ency/article/003708.htm" LH (luteinizing hormone).
Causes, incidence, and risk factors:
An area of the brain called the hypothalamus secretes gonadotropin-releasing hormone (GnRH), which stimulate the pituitary gland. In response to this hormone, the pituitary gland (located near the hypothalamus) secretes other hormones (FSH and LH).
These hormones, in turn, stimulate the ovaries (female) andtestes (male) to secrete hormones that are responsible for normal sexual development in puberty. Any disruption in this chain reaction causes a deficiency of the sex hormones and halts normal sexual maturation.
Failure of the hypothalamus is most commonly a result of Kallmann syndrome. Kallmann syndrome is an inherited disorder that usually includes a disorder of the sense of smell. Failure of the pituitary may result from HYPERLINK "http://www.umm.edu/ency/article/000349.htm" empty sella syndrome , HYPERLINK "http://www.umm.edu/ency/article/000704.htm" pituitary tumors (craniopharyngioma), HYPERLINK "http://www.umm.edu/ency/article/000028.htm" head injuries , or other causes.
Primary amenorrhea in the presence of normal secondary sexual characteristics
Imperforate hymen
Imperforate hymen is said to be present when there is complete obliteration of hymen fenestrations in such away that no blood or vaginal secretion can pass through it. The condition usually presents by the age of 12-14 years as primary amenorrhea which is associated with normal development of female secondary sexual characteristics. Typically there is primary amenorrhea with cyclical pelvic pain which coincide with the onset of menstruation. On examination there is a pelvic mass which best felt by rectal examination. The hymen is shown to be distended with bluish discoloration. Treatment is established by simple excision of the hymen to allow for normal flow of the menstrual blood.
Rokitansky syndrome or mullerian agenesis
Rokitansky syndrome is a congenital disorder in which all the embryonic structures which arise from the mullerian fail to develop. From anatomical point of view the upper 2/4 of the vagina, uterus and the fallopian tubes are all absent. However as the ovary develops from different embryonic components it develops normally. Patients with rokitansky syndrome usually escape detection at birth and presents first at puberty as case of primary amenorrhea with normal secondary sexual characteristics. Patient on examination is found to have normally developed breast and pubic hair; however there is no vagina on pelvic examination. On ultrasound scan the uterus is absent, however the ovaries are found to be normal. Though there is no definite cure of rokitansky syndrome however corrective surgery to construct new vagina are usually indicated to allow for normal intercourse after marriage.
Primary amenorrhea in the presence of virilizing secondary sexual characteristics
Congenital adrenal hyperplasia
Definition:
Congenital adrenal hyperplasia refers to a group of inherited HYPERLINK "http://www.umm.edu/ency/article/002219.htm" adrenal gland disorders. People with this condition do no produce enough ofthe hormones cortisol and aldosterone, and produce too much ofandrogen.
Causes, incidence, and risk factors:
Congenital adrenal hyperplasiacan affect both boys and girls. People with congenital adrenal hyperplasialack of an HYPERLINK "http://www.umm.edu/ency/article/002353.htm" enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.
Without these hormones, the body produces more androgen, a type of male sex hormones. This causes early (or inappropriate) appearance of male characteristics.
Newborn girls with this disorder have a swollen clitoris with the urethral opening at the base (ambiguous genitalia, often appearing more male than female). The internal structures of the female reproductive tract (ovaries, uterus, and fallopian tubes) are normal. As the female grows older, some features start to appear male, such as deepening of the voice, facial hair, and HYPERLINK "http://www.umm.edu/ency/article/003149.htm" failure to menstruate at puberty.
No obviousproblems are seen in newborn males, butchanges can be seenlong before puberty normally occurs. The child becomes increasingly muscular, the HYPERLINK "http://www.umm.edu/ency/article/002279.htm" penis enlarges, pubic hair appears, and the voice deepens. Boys may appear to enter puberty as early as 2-3 years of age. At puberty, the HYPERLINK "http://www.umm.edu/ency/article/002334.htm" testes are small.
Some forms of congenital adrenal hyperplasia are more severe and cause HYPERLINK "http://www.umm.edu/ency/article/000357.htm" adrenal crisis in the newborn due to salt wasting. In this salt-losing form of congenital adrenal hyperplasia, newborns develop severe symptoms shortly after birth, including vomiting, HYPERLINK "http://www.umm.edu/ency/article/000982.htm" dehydration , HYPERLINK "http://www.umm.edu/ency/article/002350.htm" electrolyte changes, and cardiac HYPERLINK "http://www.umm.edu/ency/article/001101.htm" arrhythmias . Untreated, this condition can lead to death within 1 to 6 weeks after birth.
About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.
Androgen insensitivity syndrome
Definition:
Androgen insensitivity syndrome (AIS) is when a person who is genetically male (has one X and one Y chromosome) is resistant to male hormones called androgens. As a result, the person has some or all of the physical characteristics of a woman, despite having the genetic makeup of a man.
The syndrome is divided into two main categories: complete and incomplete. Complete AIS results in someone who looks female. In the incomplete AIS syndrome, the degree of sexual ambiguity varies widely from individual to individual.
Alternative Names:
Testicular feminization
Causes, incidence, and risk factors:
The syndrome is caused by various genetic mutations on the X chromosome. The mutations make a developing male baby unable to respond to androgens. (Androgens are responsible for male physical characteristics.)
If the androgen insensitivity is complete, this prevents the development of the penis and other male body parts. The child is born appearing to be a girl. The complete form of the syndrome occurs in as many as 1 in 20,000 live births.
Different degrees of androgen resistance can result in a wide variety of outward symptoms. Incomplete AIS can include other disorders, such as Reifenstein's syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome), which is associated with hypospadias (where the opening of the urethra is on the underside, rather than at the tip, of the penis), gynecomastia (breast development in men), and cryptorchidism (when one or both testes fail to descend into the scrotum after birth).