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76 Cards in this Set
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- Back
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Sex Steroid Hormones
Name examples: Estrogens Progestin Androgens Androgen precursors: |
Estrogens
- Estradiol - Estrone - Estriol Progestin - Progesterone Androgens - Testosterone - Dihydrotestosterone Androgen precursors: - Androstenedione - Dehydroepiandrosterone (DHEA) |
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Major Estrogen Effects
In utero: |
- Not required for female sexual differentiation.
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Major Estrogen Effects
Puberty: |
o Breast development.
o Endometrial proliferation - menarche. o Skeleton - growth spurt, epiphyseal closure and increased density. |
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Major Estrogen Effects
Adult: |
o Endometrial proliferation - menses.
o Skeleton - maintain bone density. o Vaginal mucosal thickening. |
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Major Androgen Effects.
In utero: Male sexual differentiation. |
o Internal genitalia.
o External genitalia (via conversion to DHT). |
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Major Androgen Effects
Puberty |
o Growth of external genitalia.
o Certain hair follicles (via conversion to DHT): o Axillary and pubic hair (very sensitive to androgens). o Facial and trunk hair (less sensitive to androgens). o Sebaceous gland activity (acne). o Enlargement of larynx (deepening of voice). |
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Major Androgen Effects
Adult |
o Increased libido¾sexual activity.
o Spermatogenesis. o Certain hair follicles - temporal and frontal balding (via conversion to DHT). o Prostate - growth and secretion (via conversion to DHT). o Increased muscle mass and strength. o Increased bone density (via conversion to estradiol) o Increased erythropoiesis (higher hematocrit in men). |
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Clinical Presentation of Gonadal Disorders
At birth: |
- Ambiguous genitalia
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Clinical Presentation of Gonadal Disorders
Puberty: |
- Delayed or absent
- Premature |
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Clinical Presentation of Gonadal Disorders
Adult women: |
- Amenorrhea
- Infertility - Hirsutism |
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Clinical Presentation of Gonadal Disorders
Adult men: |
- Androgen deficiency
- Infertility - Gynecomastia |
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Major Causes of Ambiguous Genitalia
In genetic males: |
- Androgen receptor defects.
- 5-alpha reductase deficiency. - Testosterone synthetic defects |
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Major Causes of Ambiguous Genitalia
In genetic females: |
- Congenital adrenal hyperplasia.
- Exogenous androgens. |
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Major Causes of Amenorrhea
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Pregnancy
Genital and endometrial abnormalities Ovarian disorders Hypothalamic - pituitary dysfunction Associated with androgen excess |
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Major Causes of Amenorrhea
Genital and endometrial abnormalities: |
- Congenital absence of the uterus (Mullerian dysgenesis).
- Testicular feminization. - Endometrial scarring (Asherman's syndrome) |
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Major Causes of Amenorrhea
Ovarian disorders |
Ovarian dysgenesis (Turner's syndrome).
Radiation. Cytotoxic drugs. Autoimmune ovarian failure. Idiopathic premature menopause. |
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Major Causes of Amenorrhea
Hypothalamic - pituitary dysfunction |
Hyperprolactinemia.
Congenital LHRH deficiency (Kallman's syndrome). Hypothyroidism. Other pituitary or hypothalamic disorders. Weight loss (+ anorexia nervosa). Exercise. Emotional distress. Chronic illness. |
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Major Causes of Amenorrhea
Associated with androgen excess: |
Polycystic ovary syndrome.
Cushing's syndrome. Congenital adrenal hyperplasia. Ovarian and adrenal tumors. |
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Initial Laboratory Studies in Amenorrhea
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hCG (pregnancy test)
TSH Prolactin FSH Free testosterone |
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Major Causes of Androgen Deficiency in Adults
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Testicular disorders
Hypothalamic - pituitary dysfunction Combined defects |
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Major Causes of Androgen Deficiency in Adults
Testicular disorders: |
- Klinefelter's syndrome.
- Orchitis (mumps, other viruses). - Trauma. - Drugs (including alcohol). - Autoimmune testicular failure. |
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Major Causes of Androgen Deficiency in Adults
Hypothalamic - pituitary dysfunction |
Congenital LHRH deficiency (Kallman's syndrome).
Hyperprolactinemia. Cushing's syndrome. Other pituitary or hypothalamic disorders. Chronic illness. |
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Major Causes of Androgen Deficiency in Adults
Combined defects |
- Hepatic cirrhosis.
- Chronic renal failure. |
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Major Causes of Female Infertility
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Amenorrhea
Anovulation Fallopian tube obstruction |
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Major Causes of Female Infertility
Fallopian tube obstruction (examples in which this occurs) |
Pelvic inflammatory disease or adhesions
Endometriosis |
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Major Causes of Male Infertility (Oligospermia)
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- Androgen deficiency
- Seminiferous tubule dysfunction - Obstruction of the epididymis or vas deferens |
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Major Causes of Male Infertility (Oligospermia)
Seminiferous tubule dysfunction |
Idiopathic oligospermia
Klinefelter's syndrome Orchitis Drugs and toxins Radiation Cryptorchidism |
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Major Causes of Gynecomastia
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Physiologic
Androgen deficiency Estrogen excess: Drugs |
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Major Causes of Gynecomastia
Physiologic |
Neonate
Puberty |
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Major Causes of Gynecomastia
Androgen deficiency |
Any cause
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Major Causes of Gynecomastia.
Estrogen excess: |
Chorionic gonadotropin secretion
Increased conversion of androgens (liver disease; adrenal carcinoma) |
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Major Causes of Gynecomastia.
Drugs: |
- Estrogen
- Inhibition of testosterone synthesis or action (ketoconazole, spironolactone, cimetidine) - Others |
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Major Causes of Hirsutism
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Adrenal disorders
Ovarian disorders Exogenous androgens |
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Major Causes of Hirsutism
Adrenal disorders: |
Cushing's syndrome
Congenital adrenal hyperplasia Tumors |
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Major Causes of Hirsutism
Ovarian disorders |
Polycystic ovarian syndrome
Idiopathic androgen excess Tumors |
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Elevated FSH indicate __________-
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ovarian failure
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Elevated free testosterone indicate _________
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androgen excess
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Turner's syndrome is diagnosed by _________ (test)
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karyotype of leukocytes
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In the rare patient with marked elevation of testosterone, ______and th _______ should be imaged, looking for an androgen-secreting tumor
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ovaries and adrenals
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Most patients with mild testosterone excess have the ____________
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polycystic ovary syndrome
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Initial Laboratory Studies in Amenorrhea
If all initial tests are normal, the patient has ____________- |
1) hypothalamic or pituitary dysfunction (hypogonadotropic hypogonadism)
or 2) polycystic ovary syndrome The history should be reviewed for weight loss, strenuous exercise, and symptoms of a pituitary mass lesion (headaches, visual loss). Sense of smell can be tested crudely with packets of coffee, peanut butter, etc. If no reversible cause of hypothalamic¾pituitary dysfunction is apparent, the hypothalamus and pituitary should be imaged |
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The most common causes of primary amenorrhea are:
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Turner's syndrome and its variants,
Mullerian dysgenesis, and constitutional delay of puberty |
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The most common causes of secondary amenorrhea are:
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polycystic ovary syndrome,
hyperprolactinemia weight loss |
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Androgen Deficiency in Adults
Androgen deficiency in adult men most often presents with _______ They also present with ________ |
decreased libido (sexual desire) <-- MOST COMMON
they are also usually infertile, show decreased beard growth, decreased strength and osteoporosis |
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T/F
Impotence (inability to attain or maintain an erection sufficient for intercourse, now euphemized as "erectile dysfunction") with normal libido is a common problem, and often due to androgen deficiency. |
FALSE
Impotence (inability to attain or maintain an erection sufficient for intercourse, now euphemized as "erectile dysfunction") with normal libido is a common problem, and RARELY due to androgen deficiency. (impotence) Its major causes are psychological disorders, drugs (including alcohol, sedatives and antihypertensive drugs), autonomic neuropathy (e.g., due to diabetes) and vascular disease. |
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Major Causes of Androgen Deficiency in Adults
Testicular disorders: Klinefelter's syndrome presents as: |
- 1 in 500 male births.
- Seminiferous tubules fail to develop normally and because of this, the testes are small (<4 cc in volume) and firm, No spermatogenesis. Presents as: Delayed puberty or persistent gynecomastia after puberty. Note: Adults with Klinefelter's syndrome are infertile, and usually require treatment for androgen deficiency. |
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Major Causes of Androgen Deficiency in Adults
Testicular disorders: Viral orchitis presents as: |
- in adults, most often due to mumps, can cause testicular atrophy
- causes infertility alone |
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Major Causes of Androgen Deficiency in Adults
Testicular disorders: Alcohol causes hepatic cirrhosis and leads to __________ |
testicular dysfunction
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Major Causes of Androgen Deficiency in Adults
Hypothalamic-Pituitary Dysfunction Hyperprolactinemia in men (see Pituitary chapter) is usually due to |
due to prolactin-secreting pituitary macroadenoma
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Major Causes of Androgen Deficiency in Adults
Hypothalamic-Pituitary Dysfunction Kallman's syndrome (see Amenorhea above) usually presents as |
usually presents as absence of puberty at the expected age
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Androgen Deficiency
Eunuchoid body habitus (arm span more than 5 cm greater than height) develops in men who _________ |
don't go through normal puberty.
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Androgen deficiency is confirmed by measurment of ____________
If ___________ is low, serum _______ should be measured. |
serum testosterone
if testosterone is low, serum LH should be measured |
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Androgen deficiency is confirmed by measurment of serum testosterone. If testosterone is low, serum LH should be measured.
If serum LH is high: If serum LH is low: |
if LH high:
indicates a testicular cause of androgen deficiency, and if no other cause is apparent, a karyotype should be done to look for Klinefelter's syndrome. If LH is not elevated, hypothalamic or pituitary dysfunction is responsible. Serum prolactin should be measured, secretion of other pituitary hormones should be assessed and sense of smell should be tested |
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Treatment:
Androgen deficiency is treated by injections of __________ |
testosterone ester (e.g., testosterone enanthate), or a topical testosterone gel that is absorbed through the skin.
Side effects of androgens include acne and gynecomastia |
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Infertility
defined as: |
defined as lack of pregnancy after one year of intercourse without contraception, affects 10-15% of couples
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The basic causes of infertility are ____________
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abnormal production of ova or sperm, or defects in the organs that bring them together
causes what? |
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A record of basal body temperature (taken first thing each morning) can detect ___________
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ovulation, since progesterone secretion causes a slight rise in temperature in the luteal phase of the menstrual cycle.
Alternatively, serum progesterone may be measured in the latter half of the cycle, since its presence indicates ovulation and formation of a corpus luteum |
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Amenorrhea and anovulation are evaluated always checking _________
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Prolactin should always be measured
when you suspect what? |
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Major Causes of Female Infertility
Fallopian tube obstruction Patency of the uterus and fallopian tubes is assessed by ___________ |
hysterosalpingogram or endoscopy
are used to test what? |
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Female Infertility.
Treatment: |
- Bromocriptine treatment of hyperprolactinemia restores fertility with a high success rate.
- Other causes of gonadotropin deficiency can be treated with gonadotropin injections or pulsatile LHRH injections via a wearable pump. - Anovulation due to PCOS can be treated with metformin or the thiazolidinediones, with the estrogen antagonist clomiphene, which stimulates gonadotropin secretion by reducing negative feedback, or with gonadotropins. - Tubal obstruction can sometimes be corrected surgically, or in vitro fertilization techniques can be tried. |
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Male Infertility
T/F Men with androgen deficiency are infertile, since testosterone secretion is required for spermatogenesis. However, testosterone levels are normal in most infertile men. |
True
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Male Infertility
Evaluation begins with __________ |
semen analysis
Normal ~ 20 million/ml Oligospermia should be confirmed by at least 2 semen analyses. Patients should be asked about a history of cryptorchidism, androgen use and exposure to industrial toxins, and examined for testicular atrophy and signs of androgen deficiency. Serum testosterone and FSH should be measured. |
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Male Infertility
If serum testosterone is low, causes of _____________ should be evaluated |
causes of androgen deficiency should be evaluated
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Male Infertility
If serum testosterone is normal, oligospermia is due to a __________ |
seminiferous tubule defect or obstruction of sperm transport.
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Male Infertility
Azoospermia with normal serum FSH indicates _________, which can be confirmed by vasogram |
ductal obstruction
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Male Infertility
Treatment. Oligospermia due to seminiferous tubule defects is treatable by _________ |
Oligospermia due to seminiferous tubule defects is NOT treatable,
but fertility may be achieved by in vitro methods. |
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Male Infertility
Gonadotropin deficiency can be treated with _________ or __________ via a wearable pump. |
gonadotropin injections or pulsatile LHRH injections
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Klinefelter's syndrome often presents as ___________
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gynecomastia
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Gynecomastia
T/F Gynecomastia due to puberty usually regresses spontaneously. |
True
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Gynecomastia
T/F Treatment of androgen deficiency causes regression of gynecomastia |
False
Treatment of androgen deficiency DOES NOT cause regression of gynecomastia and paradoxically, may make it worse. In many cases the only effective therapy is mastectomy, which is often indicated for psychological reasons. |
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Hirsutism
Hirsutism is growth of hair in a male pattern in a woman. It is a common finding, and may indicate __________ |
androgen excess
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Slight increases in androgen production in women can cause ______________________
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noticeable hair growth in areas where you would otherwise not see it (beard area, chest, etc)
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More severe androgen excess in women causes:
Name 6 things |
1) virilization:
2) frontal and temporal balding, 3) laryngeal enlargement and deepening of the voice 4) increased muscle mass 5) clitoral enlargement, and 6) suppression of gonadotropins leading to amenorrhea Virilization suggests a serious underlying cause. |
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By far the most common identifiable cause of hirsutism is _________
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polycystic ovary syndrome
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Treatment.
Hirsutism due to PCOS or idiopathic androgen excess may improve with suppression of ovarian secretion by_____________ |
oral contraceptives or with drugs that increase insulin sensitivity (metformin or the thiazolidinediones)
Androgen antagonist drugs (such as spironolactone) can also be used. |
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Androgen excess due to CAH can be suppressed by treatment with a _____________
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glucocorticoid
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