Term
| All mammals, regardless of whether they are XX or XY, start out with the same _________ ________. |
|
Definition
|
|
Term
| To become testes, the fetus must have a ___ chromosome. |
|
Definition
|
|
Term
| What causes feminization during development? |
|
Definition
| absence of testosterone (NOT the presence of estrogen or any other substance) |
|
|
Term
| How can you prevent a male from developing male structures? |
|
Definition
| only by depriving him of testosterone (NOT by giving him estrogen) |
|
|
Term
| What do anomalies of the sex chromosomal complement result in? |
|
Definition
Turner syndrome
Klinefelter syndrome |
|
|
Term
| What occurs in genetic males who are unresponsive to androgens? |
|
Definition
| androgen insensitivity syndrome |
|
|
Term
| What is an example of an environmental factor that can affect sexual development? |
|
Definition
| stress experienced by the mother during pregnancy causes demasculinization of male offspring |
|
|
Term
| What exogenous hormone can affect sexual development? |
|
Definition
|
|
Term
| What is Tanner Stage 1 in girls with regards to the breasts? |
|
Definition
|
|
Term
| What is Tanner Stage 5 in girls with regard to the breasts? |
|
Definition
|
|
Term
| What is Tanner Stage 1 in girls with regards to pubic hair? |
|
Definition
| pre-adolescent; no pubic hair |
|
|
Term
| What is Tanner Stage 5 in girls with regard to pubic hair? |
|
Definition
| adult in quantity and quality and spread to medial thighs |
|
|
Term
| What is Tanner Stage 1 in boys with regard to the genitalia? |
|
Definition
|
|
Term
| What is Tanner Stage 5 in boys with regards to the genitalia? |
|
Definition
|
|
Term
| What is Tanner Stage 1 in boys with regard to pubic hair? |
|
Definition
| pre-adolescent; no pubic hair |
|
|
Term
| What is Tanner Stage 5 in boys with regards to pubic hair? |
|
Definition
| adult in quantity and quality with spread to medial thighs |
|
|
Term
| Define primary amenorrhea. |
|
Definition
absence of menses at age 14 without SSC
absence of menses at age 16 with SSC |
|
|
Term
| What is the determinant of secondary sex characteristics in a female? |
|
Definition
| breast development (estrogen) |
|
|
Term
| When is amenorrhea normal? |
|
Definition
| prepubertal, pregnant, and postmenopausal females |
|
|
Term
| What are the possible etiologies of primary amenorrhea? |
|
Definition
hypothalamic-pituitary causes
hyperandrogenism
ovarian causes
pregnancy |
|
|
Term
| What are the possible hormonal causes of primary amenorrhea? |
|
Definition
androgen insensitivity
HPO axis failure |
|
|
Term
| What would you expect the FSH levels to be in a pt. with a hypothalamic-pituitary cause of primary amenorrhea? |
|
Definition
|
|
Term
|
Definition
-hypothalamic-pituitary cause of primary amenorrhea
-genetic deficiency of GnRH and gonadotropins |
|
|
Term
| What are potential hypothalamic-pituitary causes of primary amenorrhea? |
|
Definition
-Kallmann syndrome
-hypothalamic lesions
-pituitary tumors
-Cushing syndrome
-hypothyroidism
-head trauma or encephalitis (can cause gonadotropin deficiency)
-constitutional delay of adolescence, organic illness, vigorous exercise, stressful life events, dieting, anorexia nervosa |
|
|
Term
| What is the karyotype for a pt. with Kallman syndrome? |
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| delayed or absent puberty |
|
|
Term
| Patients with Kallmann syndrome have normosmia/hyposmia/anosmia. |
|
Definition
|
|
Term
| What would you expect the FSH levels to be in a patient with primary amenorrhea due to hyperandrogenism? |
|
Definition
|
|
Term
| What conditions can cause hyperandrogenism? |
|
Definition
-adrenal tumors
-adrenal hyperplasia
-ovarian tumors
-polycystic ovaries
-androgenic steroids |
|
|
Term
| What would you expect the FSH levels to be in a patient that has primary amenorrhea due to an ovarian cause? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What are the possible ovarian causes of primary amenorrhea? |
|
Definition
Turner syndrome
ovarian failure due to autoimmunity |
|
|
Term
| What are the essentials of diagnosis for Turner syndrome? |
|
Definition
-short stature with normal GH levels
-primary amenorrhea or early ovarian failure
-epicanthal folds, webbed neck, short fourth metacarpals
-renal and cardiovascular anomalies |
|
|
Term
| What causes the reduced life expectancy related to Turner syndrome? |
|
Definition
| increased risk of type 1 and 2 DM, HTN, dyslipidemia, and osteoporosis |
|
|
Term
| Why is Turner syndrome not passed down from parent to child? |
|
Definition
| because women with Turner syndrome are usually sterile and cannot have children |
|
|
Term
| What cardiac anomalies are associated with Turner syndrome? |
|
Definition
aortic coarctation
bicuspid aortic valves |
|
|
Term
| What is the karyotype in a female with gonadal dysgenesis? |
|
Definition
|
|
Term
| What would you expect the FSH level to be in a female with gonadal dysgenesis? |
|
Definition
|
|
Term
| Why does a female with gonadal dysgenesis not have adequate estrogen? |
|
Definition
|
|
Term
| How are the ovaries affected by gonadal dysgenesis? |
|
Definition
| "streak" (underdeveloped) |
|
|
Term
| What is the treatment for gonadal dysgenesis in a female? |
|
Definition
| estrogen and progesterone |
|
|
Term
| How can pregnancy be achieved in a female with gonadal dysgenesis? |
|
Definition
|
|
Term
| What diagnostic test is there for gonadal dysgenesis? |
|
Definition
|
|
Term
| What would you expect the FSH levels to be in a female with HP axis failure? |
|
Definition
|
|
Term
| Why does a female with HP axis failure not have adequate estrogen? |
|
Definition
|
|
Term
| How are the ovaries affected in HP axis failure? |
|
Definition
| they aren't affected--normal |
|
|
Term
| What is the treatment for HP axis failure in a female? |
|
Definition
| estrogen and progesterone |
|
|
Term
| How can pregnancy be achieved in a female with HP axis failure? |
|
Definition
| ovulation induction (HMG) |
|
|
Term
| What is the diagnostic test used for HP axis failure? |
|
Definition
|
|
Term
| What is the karyotype of a female with HP axis failure? |
|
Definition
|
|
Term
| If a pt. with primary amenorrhea has a uterus but no breast development, what is your differential? |
|
Definition
gonadal dysgenesis
hypothalamic-pituitary failure |
|
|
Term
| If a pt. with primary amenorrhea has breasts but no uterus, what should you think? |
|
Definition
|
|
Term
| What syndrome is characterized by gonadal dysgenesis? |
|
Definition
|
|
Term
| What syndrome is characterized by HP axis failure? |
|
Definition
|
|
Term
| What are the potential causes of secondary amenorrhea? |
|
Definition
pregnancy
anovulation
estrogen deficiency |
|
|
Term
| Define secondary amenorrhea. |
|
Definition
no menses for 3 months if previous regular menses
no menses for 6 months if previous irregular menses |
|
|
Term
| What is a hypogonadotropic cause of secondary amenorrhea? |
|
Definition
| hypothalamic-pituitary dysfunction |
|
|
Term
| What is a hypergonadotropic cause of secondary amenorrhea? |
|
Definition
| ovarian follicular failure |
|
|
Term
| What are eugonadotropic causes of secondary amenorrhea? |
|
Definition
|
|
Term
| What are the pathophysiological classifications of secondary amenorrhea causes based on? |
|
Definition
|
|
Term
| How is a progesterone challenge test administered? |
|
Definition
| IM progesterone or 7 days oral MPA |
|
|
Term
| What is a positive progesterone challenge test? |
|
Definition
|
|
Term
| What diagnosis does a positive progesterone challenge test give you? |
|
Definition
|
|
Term
| What further workup should be done in a pt. that has a positive progesterone challenge test? |
|
Definition
|
|
Term
| How is secondary amenorrhea due to anovulation treated? |
|
Definition
|
|
Term
| What is used to treat secondary amenorrhea due to anovulation in a woman who desires pregnancy? |
|
Definition
|
|
Term
| What is a negative progesterone challenge test? |
|
Definition
|
|
Term
| What diagnosis does a negative progesterone challenge test give you? |
|
Definition
| either low estrogen or outflow tract obstruction |
|
|
Term
| What further workup should be done in a pt. with a negative progesterone challenge test? |
|
Definition
| estrogen-progesterone challenge test |
|
|
Term
| What treatment should be given for a pt. with a negative progesterone challenge test? |
|
Definition
| nothing yet--more workup needed to reach diagnosis |
|
|
Term
| How is an estrogen-progesterone challenge test administered? |
|
Definition
| oral estrogen x 21 days, then 7 days of MPA |
|
|
Term
| What is a positive estrogen-progesterone challenge test? |
|
Definition
|
|
Term
| What diagnosis does a positive estrogen-progesterone challenge test give you? |
|
Definition
|
|
Term
| What further workup is needed in a pt. with secondary amenorrhea due to low estrogen? |
|
Definition
|
|
Term
| What diagnosis does an elevated FSH give you in the presence of low estrogen? |
|
Definition
|
|
Term
| What diagnosis does a low FSH level give you in the presence of low estrogen? |
|
Definition
|
|
Term
| What is the treatment for secondary amenorrhea due to low estrogen? |
|
Definition
| HRT (estrogen and progesterone) |
|
|
Term
| What is a negative estrogen-progesterone challenge test? |
|
Definition
|
|
Term
| What diagnosis does a negative estrogen-progesterone challenge test give you? |
|
Definition
|
|
Term
| What further workup should be done in a pt. with secondary amenorrhea due to an outflow obstruction? |
|
Definition
| hysterosalpingogram (HSG) |
|
|
Term
|
Definition
intrauterine adhesions/scarring
potential cause of secondary amenorrhea due to outflow obstruction |
|
|
Term
| How is secondary amenorrhea due to an outflow obstruction treated? |
|
Definition
intrauterine adhesion lysis
estrogen |
|
|
Term
| What is the most common cause of secondary amenorrhea? |
|
Definition
|
|
Term
| What is lacking with anovulation? |
|
Definition
progesterone
no corpus luteum |
|
|
Term
| What is lacking with low estrogen? |
|
Definition
estrogen
no ovarian follicles |
|
|
Term
| What clinical findings are consistent with male hypogonadism? |
|
Definition
-diminished libido and erections
-fatigue, depression, reduced exercise endurance
-decreased growth of body hair
-testes may be small or normal in size |
|
|
Term
| What lab findings are consistent with male hypogonadism? |
|
Definition
| low serum testoerone or free testosterone |
|
|
Term
| What would you expect the serum gonadotropin (LH and FSH) levels to be in a male with hypogonadotropic hypogonadism? |
|
Definition
|
|
Term
| What would you expect the serum gonadotropin (LH and FSH) levels to be in a male with hypergonadotropic hypogonadism (testicular failure)? |
|
Definition
|
|
Term
| What is another name for hypergonadotropic hypogonadism? |
|
Definition
|
|
Term
| What cells in the testes are stimulated by FSH to secrete sperm inhibin? |
|
Definition
|
|
Term
| What cells in the testes are stimulated by LH to secrete testosterone? |
|
Definition
|
|
Term
| What is an example of primary male hypogonadism? |
|
Definition
| testicular dysfunction (Klinefelter's syndrome) |
|
|
Term
| What would you expect the T and LH levels to be in a male with primary hypogonadism? |
|
Definition
|
|
Term
| What are the potential causes of secondary male hypogonadism? |
|
Definition
pituitary dysfunction (tumor)
hypothalamic dysfunction (Kallmann syndrome) |
|
|
Term
| What would you expect the T and LH levels to be in a male with secondary hypogonadism? |
|
Definition
|
|
Term
| What is the effect of pituitary dysfunction (tumor) in a male? |
|
Definition
| decreases LH and FSH secretion, leading to decreased T secretion |
|
|
Term
| What is the effect of hypothalamic dysfunction (Kallmann syndrome) in a male? |
|
Definition
| decreased GnRH secretion, leading to decreased LH and FSH secretion, which leads to decreased T secretion |
|
|
Term
| What are the characteristics of hypogonadotropic hypogonadism? |
|
Definition
-deficiency in FSH and LH
-does not reach puberty
-small sexual organs
-infertility
-abnormal testicles that do not produce normal levels of testosterone |
|
|
Term
| What can cause acquired hypogonadotropic hypogonadism? |
|
Definition
hypothalamic or pituitary tumors
hemochromatosis
Cushing syndrome
adrenal insufficiency
thyroid hormone excess or deficiency |
|
|
Term
| Kallmann's syndrome is a rare hormonal disorder which affects predominantly ______ but can also affect ______. |
|
Definition
|
|
Term
| What serum testosterone level would you expect in a male with Kallmann's syndrome? |
|
Definition
|
|
Term
| What serum testosterone level would you expect in a male with partial acquired hypogonadotropic hypogonadism? |
|
Definition
|
|
Term
| What are the functional causes of male partial acquired hypogonadotropic hypogonadism? |
|
Definition
obesity
poor health
normal aging
spermatogenesis is usually preserved |
|
|
Term
| Failure in testicular secretion of testosterone causes a rise in ____. |
|
Definition
|
|
Term
| If testicular Sertoli cell function is deficiency, _____ will be elevated. |
|
Definition
|
|
Term
| What conditions can cause testicular failure? |
|
Definition
viral infection (mumps)
irradiation
cancer chemotherapy
autoimmunity
uremia
Klinefelter syndrome |
|
|
Term
| What is the karyotype of a pt. with Klinefelter syndrome? |
|
Definition
|
|
Term
| What is the most common chromosomal disorder associated with male hypogonadism and infertility? |
|
Definition
|
|
Term
| What symptoms characterize Klinefelter syndrome? |
|
Definition
-hypogonadism (small testes, azoospermia, oligospermia)
-gynecomastia in late puberty
-psychosocial problems
-elevated urinary gonadotropin levels |
|
|
Term
| What lab findings are consistent with Klinefelter syndrome? |
|
Definition
-low serum testosterone
-high LH and FSH
-high estradiol |
|
|
Term
| What characteristics does a prepubertal male with hypogonadism have? |
|
Definition
eunichoidism
-sparse body hair
-poor development of skeletal muscles
-delay in epiphyseal closure (resulting in long arms and legs) |
|
|
Term
| What symptoms does a postpubertal male with hypogonadism have? |
|
Definition
-lack of energy
-depression
-decreased libido and erections |
|
|
Term
| The secretion of GnRH by the __________ causes the anterior pituitary to secrete ____ and _____. |
|
Definition
|
|
Term
| LH stimulates the synthesis and secretion of _______, primarily testosterone, by the ________ cells. |
|
Definition
|
|
Term
| FSH stimulates the ___________ cells to make sperm (also known as _________). |
|
Definition
|
|
Term
| Hormone secretion and spermatogenesis are said to be ___________. It makes no biological sense to have these events occur independently. This is why sperm production occurs only in the presence of ____ and __________. |
|
Definition
| coupled; FSH and adrogens |
|
|
Term
| The stimulation of testosterone secretion by gonadotropins is under _________ control, meaning the higher the concentration of testosterone in the blood, the ______ gonadotropin will be secreted by the pituitary. |
|
Definition
|
|
Term
| As testosterone levels increase, ____ secreting cells of the pituitary decrease their rate of secretion and _____ secreting cells of the hypothalamus decrease the frequency of hormone pulses. |
|
Definition
|
|
Term
| The stimulation of sperm production by gonadotropins is under _________ control. |
|
Definition
|
|
Term
| With regard to the negative feedback control associated with spermatogenesis, there is a partial feedback signal in the form of ________, which regulates the ultimate secretion of ____ and ____. |
|
Definition
|
|
Term
| With regard to spermatogenesis, a more direct control is provided by _______, which is secreted by _______ cells and directly inhibits ____ secretion by the pituitary gland. |
|
Definition
|
|
Term
| Why might treatment for hypogonadotropic hypogonadism be initiated? |
|
Definition
| androgenization and fertility |
|
|
Term
| How can androgenization be achieved in a male with hypogonadotropic hypogonadism? |
|
Definition
|
|
Term
| How can fertility be achieved in a male with hypogonadotropic hypogonadism? |
|
Definition
gonadotropin replacement
pulsatile GnRH treatment |
|
|
