endocrine Flashcards
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?
Bone age
What is the appropriate treatment in a child with premature adrenarche but normal bone age?
Follow clinically
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
Serum testosterone
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 ?
X linked
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?
Prader Willi
Kallmann
Septo-optic dysplasia
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?
Autosomal recessive
What is the most common cause of CAH?
21 hydroxylase deficiency
What lab findings will be present in congenital adrenal hyperplasia?
Low Na
High K
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?
Hydrocortisone
What is the name of primary adrenal deficiency ?
Addison
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 ?
Karyotype
LH:FSH
TSH (Turner associated with hypothyroidism)
What diagnosis should you consider in a short female with scant Breast tissue and pedal edema?
Turner syndrome
Which disease should you consider in a patient with disproportionate short stature?
Achondroplasia
What disease shows early puberty followed by accelerated growth that ends with short adult height?
Congenital adrenal hyperplasia
What disease should you consider in an 11 year old with delayed bone age who is overweight?
Hypothyroidism
What is the most important determinant for ultimate adult height in a child who is tall for age?
Sexual maturity rating
What disease should you consider in a male with gynecomastia and learning disability?
Klinefelter
What disease should you consider in a child with tall statue who suffers from sudden death?
Marfan syndrome
What is the main fatal developmental anomaly in Marfan syndrome ?
Cardiac defect (Aortic aneurysm )
What disease presents as a tall child with large head circumference and cognitive deficits?
Soto’s syndrome
What diagnosis should you consider in a patient who is tall and overweight but has advanced bone age?
High caloric intake