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Endocrine: Hypogonadal Disorders
hypogonadal disorders: endocrine
121
Anatomy
Graduate
09/01/2011

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Term
For the primordial gonads to become testes, the __ __ which is from the __ __ must be present.
Definition
- H-Y antigen
- Y chromosome
Term
In the absence of the H-Y antigen, the primordial gonads become ___.
Definition
- ovaries
Term
Y chromosome> H-Y antigen> testies> testosterone and __ ___ ___> Wolffian system becomes __ __ and __ __.
Definition
- Mullerian inhibiting substance
- vas deferens
- seminal vesicles
Term
In the absence of __ and __ __ __, the Wolffian system will not develop and the Mullerian system will. The Mullerian system becomes the __, __ __, and __.
Definition
- testosterone and Mullerian inhibiting hormone
- uterus, fallopian tubes, and vagina
Term
During development it is the absence of testosterone (and not the presence of estrogen or any other substance) that feminizes females.
Definition
Term
Also keep in mind that the only way you can prevent a male from developing male structures is to deprive him of testosterone or its effects. Giving him estrogen will not make him female.
Definition
Term
In male fetuses __ is converted to __ to masculinize the brain. In female fetuses, there is not ___, but there is maternal __. Female fetuses have __ __ __ that can cross the blood brain barrier and bind __ to prevent it from masculinized the brain.
Definition
- testosterone is converted to estradiol to masculinize the braine
- not testosterone
- maternal estradiol
- alpha-fetoprotein
- bind estradiol
Term
Anomalies of the sex chromosomes can result in __ or ___ syndromes.
Definition
Turner or Klinefelter
Term
Gonadal intersexual, historically called __ __, have both ovarian and testicular tissue.
Definition
true hermaphrodites
Term
Androgen insensitivity occurs in geneteic ___ who are __ to androgens.
Definition
males
unresponsive
Term
Primary amenorrhea is absense of menses at age __ without __ __ __ or a height in the lowest __. Or absense of menses at age __ with secondary sex characteristics.
Definition
- 14
- without secondary sex characteristics
- 3%
- 16
Term
General etiology of Primary Amenorrhea:
Definition
Hypothalamic-pituitary causes
Hyperandrogenism
Ovarian causes
Pseudohermaphroditism
Uterine causes
Pregnancy
Term
A genetic deficiency of GnRH and gonadotropins resulting in primary amenorrhea and ___ is called __ __.
Definition
- anosmia
- Kallmann syndrome
Term
Hypothalamic pituitary causes that can cause primary amenorrhea:
Definition
Genetic deficiency of GnRH and gonadotropins
Kallmann syndrome
Hypothalamic lesions
craniopharyngioma
Pituitary tumors
Cushing syndrome
corticosteroid treatment, a cortisol-secreting adrenal tumor, or an ACTH-secreting pituitary tumor
Hypothyroidism
Head trauma or encephalitis can cause gonadotropin deficiency
Constitutional delay of adolescence, organic illness, vigorous exercise , stressful life events, dieting, or anorexia nervosa
Term
___thyroidism can cause primary amenorrhea.
Definition
Hypothyroidism
Term
As an untreated woman with Kallmann's syndrome, you are also sexually immature and infertile because you failed to go through puberty. Your hips did not widen, your breasts failed to grow and it is highly unlikely that you had any growth of pubic and armpit hair. You are infertile because your egg cells are unable to mature in your ovaries without the influence of LH and FSH.
Since both LH and FSH help to regulate the menstrual cycle, their absence results in the lack of menstruation. This is called primary amenorrhoea.
Look at Figure 8. You have amenorrhoea because you have no LH or FSH and therefore your ovaries cannot manufacture the required amounts of oestrogen and progesterone. You have only a very small amount of oestrogen in your blood and this is the oestrogen made by your adrenal glands. With these extremely low hormone levels (progesterone in particular), your uterus cannot work properly because its active layer (endometrium) fails to thicken.
Definition
Term
Women with Kallmann's syndrome
There is no menstruation and this can only be corrected with hormone replacement therapy. Several different types of therapy are available on the NHS and in almost all cases, the normal menstrual cycle can be simulated as closely as possible for as long as treatment is given. If treatment is stopped though, the menstrual cycle can no longer be maintained and amenorrhoea eventually returns. Hormone replacement therapy is discussed in more detail later in the answers to Questions 19 & 24.
Definition
Term
__androgenism may cause primary amenorrhea. Sources of the excess testosterone may be __ __, __ __, __ __, or ___.
Definition
- Hyperandrogenism
- adrenal hyperplasia or tumors
- ovarian tumors
- polycystic ovaries
- steroids
Term
With hypothalamic, pituitary, or hyperandrogen causes of primary amenorrhea, FSH is __ or __.
Definition
normal or low
Term
With ovarian causes of primary amenorrhea, FSH is __.
Definition
high
Term
2 ovarian causes of primary amenorrhea:
Definition
- Gonadal dysgenesis (Turner Syndrome)
- Ovarian failure (autoimmune reaction)
Term
Turner Syndrome is also known as ___ ___.
Definition
Gonadal dysgenesis
Term
Essentials of diagnosis of Turner Syndrome:
Definition
- Short stature with normal GH levels (often leads to diagnsosis)
- Primary amenorrhea or early ovarian failure
- Epicanthal folds, webbed neck, short fourth metacarpals
- Renal and cardiovascular anomalies
Term
This syndrome accounts for 10% of abortions. 97% of fetuses with this defect are miscarried.
Definition
Turner Syndrome
Term
Other features of Turner Syndrome:
Definition
Associated with spontaneous abortion (97% abort)
Affects about 1 in every 2500 live female births
Increased risk of aortic coarctation (11%) and bicuspid aortic valves (16%)
Renal abnormalities (60%)
Reduced life expectancy due in part to their increased risk of diabetes mellitus (types 1 and 2), hypertension, dyslipidemia, and osteoporosis.
not inherited from an affected parent (not passed down from parent to child) because women with Turner syndrome are usually sterile and cannot have children.
Term
Is Turner Syndrome inherited?
Definition
No, women with Turner syndrome are sterile and thus cannot pass down the syndrome
Term
Patients with Turner syndrome are at increased risk for:
Definition
- DM 1 and 2
- HTN
- dislipidemia
- osteoporosis
Term
Genotype of Turner Syndrome:
Definition
45,X0
Term
Physical exam of pt with Turner syndrome:
Definition
- short stature
- low hairline
- characteristic facial features
- constriction of aorta
- shield-shaped thorax
- poor breast development
- widely spaced nipples
- short 4th metacarpals
- elbow deformity
- rudimentary ovaries (gonadal streak)
- small finger nails
- many nevi
- no menstruation
Term
If patient has no breasts, but does have a uterus, it is either __ __ or __ ___ __ __.
Definition
- gonadal dysgenesis (Turner Syndrome)
- Hypothalamic Pituitary Axis disorder (Kallman Syndrome)
Term
Genotype of female with HP-axis failure:
Definition
46, XX
Term
With gonadal dysgenesis there is no estrogen b/c there are no __ __. With HP Axis failure, there is no estrogen b/c the follicles are not ___.
Definition
- no ovarian follicles
- follicles are not stimulated
Term
With gonadal dysgenesis the ovaries are ___, with HP Axis failure the ovaries are __.
Definition
- streaked
- normal
Term
Treatment for pregnancy for gonadal dysgeneisis:
Definition
E + P
egg donor
Term
Treatment for pregnancy for HP axis failure:
Definition
- E + P
- ovulation induction with HMG
Term
Diagnostic test for gonadal agenesis?
Definition
none
Term
Diagnostic test for HP Axis failure:
Definition
CNS imaging
Term
Psuedohermaphroditism will have __ __. This is due to an enzymatic defect in __ __.
Definition
high LH
testosterone synthesis
Term
Pseudohermaphroditism presents as a __ __ phenotypic ___ with primary amenorrhea. This patient has __ __ and the __ is absent.
Definition
- sexually immature phenotypic female
- intrabdominal testes
- uterus is absent
Term
In complete androgen resistance aka __ __, the patient will have normal __ __ but __ __. This patient has __ __ and no ___. These patients are treated as normal, but infertile, hypogonadal women.
Definition
- testicular feminization
- normal breast development
- primary amenorrhea
- intrabdominal testes
- no uterus
Term
If a patient has no uterus but intrabdominal testes, what two things could it be?
Definition
- Pseudohermaphroditism- sexually immature, no breasts, primary amenorrhea
- Complete Androgen Resistance(Testicular Feminization)- normal breast development but primary amenorrhea
Term
Uterine causes of primary amenorrhea will have __ ___.
Definition
normal FSH
Term
uterine causes of primary amenorrhea:
Definition
Congenital absence or malformation of the uterus may be responsible for primary amenorrhea, as may an unresponsive or atrophic endometrium.
Term
The initial endocrine eval of a patient with primary amenorrhea should include:
Definition
- FSH
- LH
- PRL
- testosterone
- FSH
- FT4
- hcG

if virilized or have HTN> serum electrolytes
Term
Girls with permanent hypogonadism are treated with __ __ _.
Definition
estrogen replacement therapy
Term
If patient has primary amenorrhea and has breasts, but no uterus, what are the two possible causes:
Definition
- Mullerian agenesis
- Androgen insensitivity
Term
A 16 yo girl is brought in by her mother because she’s never had menses. All her friends in school have menstruated. On exam she is well nourished, with adult breasts and pubic hair present. Pelvic exam reveals a rudimentary vagina. No uterus is palpable on rectal exam
Definition
this is either mullerian agenesis or androgen insensitivity
Term
If patient has breasts and a uterus, and has primary amenorrhea, what are the likely 2 causes?
Definition
- vaginal agenesis/septum
- imperforate hymen
Term
Transverse vaginal septum generally occurs between the upper one-third and lower two-thirds of the vaginal canal. This is additional evidence that the upper one-third of the vagina is of Mullerian origin and that the lower two-thirds of the vagina is embryologically developed via the urogenital sinus.
Definition
Term
What is the genotype of Mullerian agenesis?
Definition
46, XX
Term
With Mullerian agenesis pubic hair is ___. With Androgen insensivity, pubic hair is ___.
Definition
- Mullerian agensisi- pubic hair present
- Androgen insensivity- pubic hair absent
Term
Mullerian agenesis pt would have normal __ levels of testosterone. Androgen insensitivity would have __ levels of testosterone.
Definition
- female
- male
Term
Mullerian agenesis treatment:
Definition
- NO hormones
- create vagina
- IVF- surrogate
Term
Androgen insensitivity treatment:
Definition
- estrogen
- create vagina
- remove testes
Term
Mullerian agenesis signs include an __ or __ vagina, __ or __ uterus, __ ovaries, __ external genitalia, __ breast development and pubic hair growth. Associated __ and __ abnormalities are common.
Definition
- absent or short vagina
- absent or immature uterus
- functioning ovaries
- normal external genitalia
- normal breast development and pubic hair growth
- renal and skeletal abnormalities are common
Term
Does Turner or Mullerian agenesis HAVE a uterus?
Definition
Tuner Syndrome
Term
Has a uterus, absent ovaries?
Definition
Turner Syndrome
Term
Lacks a uterus, functioning ovaries?
Definition
Mullerian agenesis
Term
Causes of secondary amenorrhea:
Definition
- pregnancy
- anovulation
- estrogen deficiency
- outflow tract lesion
Term
Definition of secondary amenorrhea:
Definition
- Absent period for 3 months if previously regular.
- Absent period for 6 months if previously irregular.
Term
If pt has secondary amenorrhea and bleeds in response to a progesterone challenge, what is her diagnosis? What should you check next? How should you treat it?
Definition
- anovulation
- TSH and prolactin levels
- progesterone only
Term
If patient does not bleed in response to progesterone challenge> estrogen and progesterone challenge. If they bleed in response to this, they must have __ ___ levels. Next check their __ levels to see if they are high or low. Treat with __ and __.
Definition
- low estrogen levels
- FSH
- treat with estrogen and progesterone
Term
If patient does not bleed in response to progesterone challenge or E&P challenge, there may be an ___.
Definition
obstruction
Term
The pathophysiology of secondary amenorrhea is based on __ levels.
Definition
FSH
Term
3 possible pathological causes of Secondary Amenorrhea:
Definition
- HYPOgonadotropic (hypothalamus-pituitary dysfunction)
- HYPERgonadotropic (ovarian follicular failure)
- EUgonadotropic (pregnancy, anovulation, uterus, outflow obstruction)
Term
Tmt for anovulation:
Definition
- cyclic MPA (medroxyprogesterone)
- pregnancy: Clomiphene
Term
how is the estrogen-progesterone test administered?
Definition
- oral estrogen for 21 days, followed by 7 days of MPA
Term
If pt does not bleed in response to progestrone challenge or E&P challenge, what do you suspect and how do you look for it?
Definition
- outflow obstruction
- HSG (hysterosalpingogram)
Term
How do you dx Asherman syndrome?
Definition
HSG
Term
MCC of secondary amenorrhea:
Definition
pregnancy
Term
MCC of primary amenorrhea:
Definition
constitutional
Term
With anovulation there is no __ __ so __ is lacking.
Definition
- no corpus luteum
- progesterone is lacking
Term
When low estrogen is the cause of secondary amenorrhea there are no __ __.
Definition
ovarian follicles
Term
Male hypogonadism essentials of diagnosis:
Definition
- diminished libido and erections
- fatigue, depression, decreased exercise endurance
- decreased body hair
- testes may be small or normal
- serum or free testosterone is decreased
-
Term
In male hypogonadotropic hypogonadism serum LH and FSH are ___.
Definition
decreased
Term
In hypergonadotropic hypogonadism in males aka __ ___, FSH and LH are ___.
Definition
- testicular failure
- increased
Term
LH stimulates the __ cells to secrete ___.
Definition
- LH> Leydig cells> Testosterone
Term
FSH stimulates the __ cells to make __.
Definition
FSH> Sertoli cells> Sperm
Term
Hormone secretion and spermatogenesis are said to be coupled. It makes no biological sense to have these events occur independently. This is why sperm production occurs only in the presence of FSH and androgens.

3. The stimulation of testosterone secretion by gonadotropins is under negative feedback control. This means that the higher the concentration of testosterone in the blood the less gonadotropin will be secreted by the pituitary. This control works in two ways; first, as testosterone levels increase it acts on LH-secreting cells of the pituitary gland to decrease their rate of secretion. Second, the increasing testosterone levels affect the GnRH-secreting cells of the hypothalamus to decrease the frequency of hormone pulses.
Definition
Term
Hypergonadotropic hypogonadism is aka __ ___.
Definition
primary hypogonadism b/c the problem is in the testes
Term
In men with primary hypogoandism testosterone will be __ and LH will be __.
Definition
- low
- high
Term
In men with secondary hypogonadism, testosterone will be __ and LH will be __.
Definition
- low
- low to normal
Term
A cause of testicular dysfunction and thus primary hypogonadism is __ __.
Definition
Klinefelter's syndrome
Term
Findings of hypogonadotropic hypogonadism in males:
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
Causes of acquired hypogonadotropic hypogonadism:
Definition
Hypothalamic or pituitary tumors
Granulomatous diseases
Lymphocytic hypophysitis
Hemochromatosis.
Cushing syndrome
Adrenal insufficiency
Thyroid hormone excess or deficiency
Term
Kallman's syndrome is more common in __.
Definition
men
Term
Typical characteristics of Kallman Syndrome are a deficient __ secretion and an absent sense of __.
Definition
GnRH
smell
Term
Kallman syndrome accounts for about 40% of cases of acquired hypogonadotropic hypogonadism that is isolated, severe and idiopathic.
serum testosterone < 150 ng/dL
Definition
Term
Tmt of Kallman syndrome:
Definition
hcg
Term
In other words, GnRH-secreting cells (GnRH being the vital ingredient for normal puberty) can only migrate to the hypothalamus if the olfactory bulbs and tracts develop normally during the embryonic phase of development.
Definition
Term
In a male, serum testosterone b/w 150-300ng/mL indicates male ___ __ ____ __.
Definition
- partial acquired hypogonadotropic hypogonadism
Term
Functional causes of hypogonadotropic hypogonadism:
Definition
- obesity
- poor health
- normal aging
- spermatogensis is usually preserved
Term
With partial acquired hypogonadotropic hypogonadism, ___ is usually preserved.
Definition
spermatogenesis
Term
Hypergonadotropic hypogonadism in males is aka __ __. Failure of the testes to secrete testosterone causes LH to ___. If sertoli cell is also deficient, __ will also be __.
Definition
- testicular failure
- LH to rise
- FSH
- high
Term
Conditions that cause testicular failure:
Definition
- viral infections (MUMPS)
- irradiation
- cancer chemotherapy
- autoimmunity
- myotonic dystrophy
- uremia
- XY gonadal dysgenesis
- Klinefelter syndrome
- male climacteric
Term
Klinefelter syndrome genotype:
Definition
47,XXY
Term
__ __ is the most common chromosomal disorder associated with male hypogonadism and infertility.
Definition
Klinefelter Syndrome
Term
Klinefelter Syndrome is characterized by:
Definition
- hypogonadism (small testes, azospermia, oligospermia)
- gynecomastia in late puberty
- psychosocial problems
- hyalinization and fibrosis of seminiferous tubules
- elevated urinary gonadotropin levels
Term
A typical pt with Klinefelter syndrome has __ testosterone, __ FSH and LH, and often elevated __ levels.
Definition
- low testosterone
- high LH and FSH
- elevated estradiol
Term
Men with Klinefelter syndrome are at a higher risk of autoimmune diseases, diabetes mellitus, leg ulcers, osteopenia and osteoporosis, tumors (breast and germ cells), systemic lupus erythematosus, rheumatoid arthritis, and Sjögren syndrome and historically have increased mortality.
Definition
The decline in testosterone production is progressive over the life span, and not all men suffer from hypogonadism.
Term
Androgen insensitivity is an __ __ __ disorder resulting in a failure of normal masculinization of external genitalia in a genetic ___.
Definition
- x-linked recessive
- genetic male
Term
Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus.
The phenotype of individuals with partial androgen insensitivity syndrome may range from mildly virilized female external genitalia (clitorimegaly without other external anomalies) to mildly undervirilized male external genitalia (hypospadias and/or diminished penile size).
Serum testosterone levels are normal.
Definition
Term
With Androgen Insensitivity, testosterone levels are ___.
Definition
normal
Term
With Androgen Insensitivity, the testes still produce __ __ __, so affected individual do not have internal female anatomy meaning they lack a __, __ __, and ___.
Definition
- anti-Mullerian substance
- lack a uterus, fallopian tubes, and vagina
Term
Androgen Insensitive patients are genetically ___. They have ___ external genitalia, but ___ internal genitalia.
Definition
- genetically male
- female external genitalia
- male internal genitalia
Term
Male Hypogonadism in a pre-pubertal patient w/o testosterone replacement is called ___. Manifestations of this include:
Definition
- Eunichoidism
- sparse body hair
- poor muscle development
- delay in epiphyseal closure> long arms and legs (arm span greater than height)
Term
Postpubertal male hypogonadism manifestations:
Definition
- lack of energy
- depression
- decreased libido and erections
Term
From a reproductive standpoint, hormone secretion and spermatogenesis should be coupled. There is no point having the testes secrete high levels of testosterone, with all the consequences for a man's physical and psychological state that we'll describe later, unless he is producing sperm—and vice-versa. To achieve this coupling, LH and FSH interact at the level of the testicular Leydig and Sertoli cells (see Figure 1). Leydig cells express LH receptors, and they secrete testosterone (and estrogen) when stimulated by LH. Sertoli cells, on the other hand, express receptors for both FSH and androgens, and each hormone stimulates the Sertoli cell to increase the expression of receptors for the other hormone. (In other words, testosterone stimulates the expression of FSH receptors, and FSH stimulates the expression of androgen receptors.) This arrangement results in synergism, or cooperative action, between the two hormones, so that Sertoli cells activate high levels of sperm production only when both androgens and FSH are present.
Definition
Term
The secretion of GnRH by the hypothalamus causes the anterior pituitary to secrete LH and FSH. LH then stimulates the synthesis and secretion of androgens, primarily testosterone, by the Leydig cells. FSH stimulates the Sertoli cells to make sperm (this is also known as spermatogenesis).
Definition
Term
Hormone secretion and spermatogenesis are said to be coupled. It makes no biological sense to have these events occur independently. This is why sperm production occurs only in the presence of FSH and androgens.
Definition
Term
The stimulation of testosterone secretion by gonadotropins is under negative feedback control. This means that the higher the concentration of testosterone in the blood the less gonadotropin will be secreted by the pituitary. This control works in two ways; first, as testosterone levels increase it acts on LH-secreting cells of the pituitary gland to decrease their rate of secretion. Second, the increasing testosterone levels affect the GnRH-secreting cells of the hypothalamus to decrease the frequency of hormone pulses.
Definition
Term
The stimulation of sperm production by gonadotropins is under negative feedback control. First there is a partial feedback signal in the form of testosterone, which regulates the ultimate secretion of FSH and LH. A more direct control is provided by inhibin, which is secreted by Sertoli cells and directly inhibits FSH secretion by the pituitary gland.
Definition
Term
Tmt of hypogonadotropic hypogonadism for adrogenization reasons:
Definition
testosterone
Term
Tmt of hypogoandotropic hypogonadism in males for fertility reasons:
Definition
gonadotropins or pulsatile GnRH treatment
Term
What are the 3 types of MEN?
Definition
MEN1
MEN2a
MEN2b
Term
MEN1 is aka __ __. It is __ ___. ___, __, and ___ tumors develop in childhood or later in life, or both, all at once or one at a time.
Definition
- Wermer Syndrome
- autosomal dominant
- Parathyroid, pancreatic, and pituitary
Term
MEN1 pts tend to get __parathryoidism. This is the first presentation in 2/3 of affected patients. It causes stones, bones, and groans. 75% of pts also get pancreatic islet cell tumors. __ can cause __ syndrome. ___ can cause ___.
Definition
- HYPERPARATHYROIDISM
- Gastrinomas can cause ZE syndrome
- Insulinomas can cause hypoglycemia
Also with MEN1:
- Pituitary adenomas
Women 50%; men 31%
62% are prolactinomas, others secrete GH, ACTH or both PRL and GH; 13% are nonsecretory
Adrenal adenomas or hyperplasia
Occurs in 37%; 50% bilateral
Usually benign
Term
Main presenting issue in pts with MEN1:
Definition
hyperparathyroidism
Term
MEN2a is aka __ __. Pt must be tested for the __ ___mutation. 4 manifestations include:
Definition
- Sipple Syndrome
- RET protoncogene mutation
1. Medullary Thyroid Carcinoma (>90%)
2. Hyperparathyroidism
3. Pheochromocytoma
4. Hirschsprung's Disease

Sipple Made Haley Pay Her.
Term
MEN2b is __ ___ and also caused by a __ __ mutation. What are the 4 manifestation?
Definition
- autosomal dominant
- RET protoncogene mutation
1. Mucosal Neuromas (>90%)
2. Medullary Thyroid Carcinoma (80%)
3. Marfan-like body habitus (75%)
4. Pheochromocytomas (60%)

B Made Max Make Pizza.
Term
___ pts may have bumpy tumorous tongues.
Definition
MEN2b
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