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