AUB Flashcards
AUB causes divided into 9 categories which are …?
PALM-COEIN: polyp, adenomyosis, leiomyoma, malignancy and hyperplasia, coagulopathy, ovulatory dysfunction, endometrial, iatrogenic, and not yet classified.
CAUSES OF PRIMARY AMENORRHEA if Breasts Absent and Uterus Present
A. Gonadal failure: 1.45,X (Turner syndrome), 2. 46,X, abnormal X (e.g., short- or long-arm deletion)
3. Mosaicism (e.g., X/XX, X/XX,XXX) 4. 46,XX or 46,XY pure gonadal dysgenesis
5. 17α-hydroxylase deficiency with 46,XX
B. Hypothalamic failure secondary to inadequate GnRH release: 1. Insufficient GnRH secretion because of neurotransmitter defect 2. Inadequate GnRH synthesis (Kallmann syndrome) 3. Congenital anatomic defect in central nervous system 4. CNS neoplasm (craniopharyngioma)
C. Pituitary failure: 1. Isolated gonadotrophin insufficiency (thalassemia major, retinitis pigmentosa) 2. Pituitary neoplasia (chromophobe adenoma) 3. Mumps, encephalitis 4. Newborn kernicterus 5. Prepubertal hypothyroidism.
the most common cause of primary amenorrhea, occurring in almost 50% of those with this symptom.
Gonadal failure which is most frequently caused by a chromosomal disorder or deletion of all (as occurs in Turner syndrome) or part of an X chromosome, but it is sometimes caused by another genetic defect and, rarely, 17α-hydroxylase deficiency.
An occasional individual with mosaicism, an abnormal X chromosome, pure gonadal dysgenesis (46,XX), or even Turner syndrome (45,X) may have a few follicles that develop under endogenous gonadotropin stimulation early in puberty and may synthesize enough estrogen to induce breast development and a few episodes of uterine bleeding, resulting early in premature ovarian failure, usually before age 25. Rarely, ovulation and pregnancy can occur.
Turner syndrome features
primary amenorrhea and absent breast development, short stature (<60 inches in height), webbing of the neck, a short fourth metacarpal, and cubitus valgus. Cardiac abnormality, renal abnormalities, and hypothyroidism are also more prevalent.
Causes of primary amenorrhea if Breast development; uterus absent:
A. Androgen resistance (testicular feminization) B. Congenital absence of uterus (uterovaginal agenesis)
Causes of primary amenorrhea if Absent breast development; uterus absent
A. 17,20-desmolase deficiency B. Agonadism C. 17α-hydroxylase deficiency with 46,XY karyotype
Causes of primary amenorrhea if Breast development; uterus present
A. Hypothalamic cause B. Pituitary cause C. Ovarian cause D. Uterine cause
The — genes are important for uterine development, and mutations (e.g., in —-) have been found in genetic syndromes with uterine abnormalities (e.g., hand-foot-genital and Guttmacher syndromes) and also in cases of bicornuate uterus.
The Hox genes are important for uterine development, and mutations (e.g., in Hox-A13) have been found in genetic syndromes with uterine abnormalities (e.g., hand-foot-genital and Guttmacher syndromes) and also in cases of bicornuate uterus.
the second most frequent cause of primary amenorrhea. It occurs in 1 in 4000 to 5000 female births and accounts for approximately 15% of individuals with primary amenorrhea.
Congenital Absence of the Uterus (Uterine Agenesis, Uterovaginal Agenesis, Mayer-Rokitansky-Küster-Hauser Syndrome)
MANAGEMENT of primary amenorrhea if hypergonadotropic hypogonadism
After a history is obtained and a physical examination performed, including measurement of height, span, and weight, those with primary amenorrhea can be grouped into one of the four general categories.
Women with hypergonadotropic hypogonadism (FSH >30 mIU/mL), not those with hypogonadotropic hypogonadism, should have a peripheral white blood cell karyotype obtained to determine whether a Y chromosome is present. If a Y chromosome is present, the streak gonads should be excised, because the incidence of subsequent malignancy, mainly gonadoblastomas, is relatively high.
All women with an elevated FSH level and an XX karyotype should have electrolyte and serum progesterone levels measured to rule out 17α-hydroxylase deficiency; a clue is if the patient is hypertensive. In addition to hypernatremia and hypokalemia, individuals with 17α-hydroxylase deficiency have an elevated serum progesterone level (>3 ng/mL), a low 17α-hydroxyprogesterone level (<0.2 ng/mL), and an elevated serum deoxycorticosterone level (>17 ng/100 mL) and usually have hypertension.
MANAGEMENT of primary amenorrhea if hypogonadotropic hypogonadism
the underlying disorder is in the CNShypothalamic-pituitary region, and the serum PRL level should be determined. Even if the PRL level is not elevated, all women with hypogonadotropic hypogonadism should have a head CT scan or MRI to rule out a lesion. Ovulation can be induced in women with this disorder because their ovaries are normal. Initially, they should receive estrogen-progestogen treatment to induce breast development and cause epiphyseal closure. When fertility is desired, human menopausal gonadotropins or pulsatile GnRH should be administered. Clomiphene citrate will be ineffective because of low endogenous E2 levels.
The differential diagnosis of androgen resistance from uterine agenesis can easily be made by
the presence in the latter condition of normal body hair, ovulatory and premenstrual-type symptoms, biphasic basal temperature, and a normal female testosterone level. Because women with uterine agenesis have normal female endocrine function, they do not require hormone therapy. A renal scan should be performed because of the high incidence of renal abnormalities. They may need surgical reconstruction of an absent vagina (McIndoe procedure), but progressive mechanical dilation with plastic dilators. Individuals with androgen resistance have an XY karyotype and male levels of testosterone. After full breast development is attained and epiphyseal closure occurs, the gonads should be removed because of their malignant potential.
The estrogen came from peripheral adipose tissue conversion is called
Estrone
Ovarian hyperthtcosis,
considered a more severe form of PCOS, is a rare condition characterized by nests of lutcinizcd thcca cells distributed throughout the ovarian stroma. Affected women exhibit severe hyperandrogenism and greater degree of insulin resistance
(HAIRAN)
Hypmmdrogmic-insulin mistant-acanthosis nigricans (HAIRAN) syndrome also is uncommon and consists of marked hyperan-drogenism, severe insulin resistance, and acanthosis nigricans.