Endo Flashcards
Pubic hair and penile enlargement without testicle enlargement. What do you think of
Androgen stimulation from outside gonadal area
When is puberty considered delayed
No breast by 13 female
No testicle enlargement by 14
Ddx for delayed puberty in females
Functional gonadotropin deficiency - anorexia
Constitutional delay
Primary ovarian failure - turner
Lab findings with premature adrenarche
Elevated DHEA and DHEA-S
Low testosterone
What is benign premature thelarche and what are they at increased risk for
Breast development before 4 yrs. it’s benign.
10% cases develop central precocious puberty. And increased risk for developing PCOS.
Define central precocious puberty
Secondary sexual characteristics in combination with acceleration in linear growth OR advanced bone age
Boys < 9
Girls < 8
How does androgen insensitivity present
Phenotypic female
Genetically male
End organ insensitivity to androgen so do not develop male genitalia.
They do make testosterone and mullirían inhibiting factor so the uterus and ovaries do not develop and they have a blind vaginal pouch.
Panhypopituitarism can be part of which syndromes
Prader willi
Kallman
Septo-optic dysphasia
Define panhypopituitaeism and how does it present
Deficit of all hormones from the pituitary gland (test all)
Micro penis and hypoglycemia
How is androgen insensitivity inherited
X linked
What is the result of 21 hydroxylase deficiency
Elevated 17 hydroxyprogesterone levels do it cannot convert to aldosterone or cortisol and these are low
How are newborns screened for CAH
17 hydroxyprogesterone assay
What’s the next step is newborn screen positive for CAH
Repeat the testing - 17 hydroxyprogesterone assay
If positive check electrolytes and urinary sodium/potassium excretion
How is prenatal screening done for CAH
Molecular genetic testing of fetal cells
Treatment for CAH
Hydrocortisone
What are the findings with primary adrenal deficiency.
Adrenals stop functioning! autoimmune disorder that destroys the adrenal gland - leads to elevated ACTH from the pituitary.
Hyperpigmentation, hyponatremia, hyperkalemia, fatigue, weight loss
ACTH stimulates production of cortisol from the adrenals but this doesn’t happen when adrenals don’t work so it just accumulates
Tx for primary adrenal deficiency
Fludrocietisone for mineralocirticoid replacement
Hydrocortisone for glucocorticoid replacement
How does secondary adrenal deficiency present
Muscle weakness, decreased cardiac function. Electrolyte are normal.
Pituitary is not making ACTH (low ACTH)
When the problem is in the pituitary gland they might describe midline defects such as cleft lip
What is Cushing syndrome
Excess glucocorticoid due to excessive production of corticotropin by the pituitary gland which leads to excess cortisol production by the adrenal gland
How does Cushing present
Increase bmi with growth arrest
(Gain in wt but not in ht)
And delayed bone age
What syndrome must you think of when you have an infant with Cushing syndrome
McCune Albright syndrome
Gold standard test to confirm hyoercortisolism
24 hr urinary free cortisol excretion
What is the peak growth velocity prior to puberty
5-6cm/yr
Presentation of growth hormone deficiency
Micro penis, hypoglycemia, short stature. Bone age may be significantly delayed.
