Flashcards in endocrine Deck (91)
What is responsible for the formation of male external genitals in XY infants?
Presence of androgens
What is responsible for regression of female internal structures in XY males?
Presence of mullerian inhibiting factor
What is the age at which precocious puberty can be defined?
In boys - age 9
In girls - age 7
What is the first step in diagnosis of a child with premature adrenarche?
What is the appropriate treatment in a child with premature adrenarche but normal bone age?
What androgens are typically high in premature adrenarche?
DHEA and DHEAS
What may be a cause of premature adrenarche?
Exogenous or endogenous androgen OR late onset CAH
What should be done in a child with premature adrenarche and advance bone age?
ACTH stimulation test and
What is the cause of premature thelarche?
Exogenous or endogenous estrogen OR premature activation of the hypothalamic pituitary axis
What is the underlying cause of persistant Müllerian duct syndrome ?
Mullerian inhibiting substance not formed or there is a lack of receptors
What is the diagnosis in an XY male with formation of uterus, Fallopian tubes and upper vagina?
Persistant Müllerian duct syndrome
What is the phenotypic findings in klinefelter syndrome ?
Small testicles and penis
No internal or external female genitalia
What is the inheritance pattern of androgen insensitivity ?
What is the underlying cause of an XY male with no external male genitalia and a blind ending vagina with no uterus?
Androgen insensitivity - peripheral receptors are resistant to testosterone
Which 3 syndromes may present with panhypopituitarism?
What condition is due to increased androgen causing ambiguous genitalia in females and excessive scrotal pigmentation in males?
Congenital adrenal hyperplasia
How is CAH inherited?
What is the most common cause of CAH?
21 hydroxylase deficiency
What lab findings will be present in congenital adrenal hyperplasia?
High 17 hydroxyprogesterone
How is prenatal screening for CAH performed?
Molecular genetic testing of fetal cells
NOT via amniotic fluid measurement of 17 hydroxyprogesterone
What should be done if 17 hydroxyprogesterone assay is positive?
Repeat. If positive again, get serum electrolytes and urinary excretion of Na/k
How is congenital adrenal hyperplasia treated?
What is the name of primary adrenal deficiency ?
What are the classic symptoms of Addison disease?
Hyperpigmentation due to high ACTH
Low Na and high K due to low aldosterone
How is secondary adrenal deficiency different from primary adrenal deficiency?
In secondary deficiency...
The problem is the pituitary gland
Normal ACTH (no hyperpigmentation)
Normal aldosterone (normal K and Na)
What symptoms can present if a patient abruptly stops taking glucocorticoids?
Signs of adrenal insufficiency ...muscle weakness, decreased BP, increased pulse
What 3 studies should be done if you suspect Turner syndrome ?
TSH (Turner associated with hypothyroidism)
What diagnosis should you consider in a short female with scant Breast tissue and pedal edema?
Which disease should you consider in a patient with disproportionate short stature?