High Yield Intro Flashcards
What does hair growth suggest?
Presence of testosterone
What does the presence of breast tissue suggest?
Estrogen is present
What hormone is not produced in Kallmann syndrome?
GnRH from the hypothalamus
How does Kallman syndrome usually present?
- Anosmia
- Delayed/absent puberty in male or female
What are the 2 cardiovascular pathologies associated with Turner’s syndrome?
- Coarctation of the aorta
- Bicuspid aortic valve
What kind of valve disease does a bicuspid aortic valve cause?
Aortic stenosis
What cardiac abnormalities are associated with Down’s syndrome?
- Endocardial cushion defects (regurgitation of AV valves)
- Ostium primum ASD
What cardiac abnormality are associated with DiGeorge syndrome?
Conotruncal abnormalities
- Tetralogy of Fallot (overriding aorta, Pulmonary stenosis, RV Hypertrophy, R->L shunting VSD)
What cardiovascular abnormalities are associated with Marfan’s syndrome?
- Cystic medial necrosis -> aortic dissection
- Mitral valve prolapse
What cardiovascular disease is associated with Tuberous sclerosis?
Cardiac rhabdomyoma (ball-valve + low grade fever)
What type of cardiovascular disease is associated with Friedreich Ataxia?
Hypertrophic cardiomyopathy
What is the cause of Turner’s syndrome?
- Chromosomal non-disjunction -> chromosomal monosomy -> poor ovarian development (high FSH/LH)
- 45XO or 46XX (mosaicism)
What is the short habitus due to in Turner’s syndrome?
Poor SHOX
What will the ovaries look like in Turner’s syndrome?
Streak ovaries
What will the level of FSH and LH be like in Turner’s and Klinefelter’s syndrome?
High
What are the phenotypical features of Klienefelter’s syndrome?
- Testicular atrophy
- Reduced body hair
- Gynecomastia
- Poor neurocognitive function
- Tall habitus -> growth plate closure is delayed
What is the cause of Klinefelter’s?
- Non-dysjunction -> 47 XXY (presence of Barr Body)
- Seminiferous tubule dysgenesis (high FSH/LH)
- Primary hypoganadism
- Low T
What is cryptorchidism?
a condition in which one or both of the testes fail to descend from the abdomen into the scrotum.
What converts testosterone to estradiol?
Aromatase
What are the signs of placental aromatase deficiency?
- Masculisation of female infants (46XX DSD)
- Ambiguous genitalia
- Increase in testosterone and androstenedione
- Virilization of mother
What is virilization?
Condition in which a female develops characteristics associated with male hormones (androgens)
What does aromatase convert testosterone to in the fat cells?
Estrone
What does aromatase convert testosterone into in the placenta?`
Estriol
What is the active form of testosterone?
5-DHT (dihydrotestosterone)
What does 5-DHT do?
- Enlarges penis and prostate
- Contributes towards male pattern baldness
Name an inhibitor of aromatase?
Anastrazole
- Blocks conversion of testosterone into estradiol
Name a 5-alpha reductase inhibitor?
Finasteride
- Blocks conversion of testosterone into DHT
Name a DHT blocker?
Flutamide
What are the signs of Mullerian Agenesis?
- Primary amenorrhea (XX) with fully developed secondary sex characteristics (presence of testosterone and estrogen)
- Short, blind-ending vagina
What are the Mullerian derivatives?
- Fallopian tubes
- Uterus
- Cervix
- Upper 1/3 of Vagina (blind ending vagina in Mullerian agenesis)
What embryological structure gives rise to the lower 2/3s of the vagina?
Lower 2/3 urogenital sinus
What is seen on examination / presentation in individuals with androgen insensitivity syndrome?
- Breast engorgement (presence of estrogen)
- No pubic hair (no T)
- Blind ended vaginal pouch
- Inguinal exam will reveal bilateral smooth masses (Intra-labial testes)
- Penotypically male, genotypically male
What is the karyotype of individuals with androgen insensitivity syndrome?
46 XY
Name some differences between Mullerian agenesis and Androgen Insensitivity syndrome
- Both have primary amenorrhea and blind ending vagina
- Pubic hair present in Mullerian, not in AIS
- Intra-labial testes in AIS
- Mulerian is XX; AIS is XY
What other than anosmia is Kallman’s syndrome associated with?
Renal agenesis
What happens when a follicle degenerates in PCOS?
Cystic dilatation
What pituitary hormone is increased in PCOS?
LH
- Stimulates Theca interna cells
- Causes increase in Androgens -> Hirstuism
What does adipose do in PCOS?
Converts T to estrone
- Decreased FSH
What does decreased FSH in PCOS result in?
Granulosa cell atrophy
- Cystic dilatation of follicle
Tyipical presentation of PCOS
- Irregular menstrual cycles
- Hirsutism
- Acne, oily skin
- Obesity
- Acanthosis nigricans
- Deepening of voice
- Aggression
What drugs are given to treat PCOS?
- Spironalactone (anti-androgenic properties)
- Metformin (decreases insulin resistance)
- Clomiphene (Selective strogen receptor modulator -> causes surge of LH surge and ovulation)
- OCP - regulates menstration
How can a non-classical Congenital adrenal hyperplasia create a high androgen state?
- Peri-pubertal increase in 17-Hydroxyprogesterone
- This will cause a downstream increase in cortisol and testosterone
Where can you get an androgen secreting tumour?
- Sertoli Leydig
- Adrenal -> high DHEA-S
When can an individual with Cushings’s also have a high androgen state?
- Primary Cushing’s disease
- Chronic disease
- Anabolic steroid use may lead to Cushing’s
Use of what drug is linked to hepatocellular adenoma?
OCP
What cells are stimulated by LH in females?
Theca interna cell
What cells are stimulated by LH in males?
Leydig cells
What does FSH stimulate in females?
Granulosa cells to produce estradiol through aromatase
What do Theca cells produce and where do they go?
Testosterone which travels to the granulosa cells which are then stimulated by FSH to produce estradiol
What cells produce estradiol in the female?
Granulosa cells
What cells are stimulated by FSH in males?
Sertoli cells
What is a tumour marker for ovarian tumours?
CA-125
What is the most common ovarian tumour?
Surface ovarian tumour (90%)
What does a surface ovarian tumour often present with?
- Fullness
- Early satiety
- Abdo distension
What is a benign tumour of the ovary called?
cystadenoma
