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Flashcards in endocrine Deck (91)
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What is responsible for the formation of male external genitals in XY infants?

Presence of androgens

1

What is responsible for regression of female internal structures in XY males?

Presence of mullerian inhibiting factor

2

What is the age at which precocious puberty can be defined?

In boys - age 9
In girls - age 7

3

What is the first step in diagnosis of a child with premature adrenarche?

Bone age

4

What is the appropriate treatment in a child with premature adrenarche but normal bone age?

Follow clinically

5

What androgens are typically high in premature adrenarche?

DHEA and DHEAS

6

What may be a cause of premature adrenarche?

Exogenous or endogenous androgen OR late onset CAH

7

What should be done in a child with premature adrenarche and advance bone age?

ACTH stimulation test and
Serum testosterone

8

What is the cause of premature thelarche?

Exogenous or endogenous estrogen OR premature activation of the hypothalamic pituitary axis

9

What is the underlying cause of persistant Müllerian duct syndrome ?

Mullerian inhibiting substance not formed or there is a lack of receptors

10

What is the diagnosis in an XY male with formation of uterus, Fallopian tubes and upper vagina?

Persistant Müllerian duct syndrome

11

What is the phenotypic findings in klinefelter syndrome ?

Small testicles and penis
No internal or external female genitalia

12

What is the inheritance pattern of androgen insensitivity ?

X linked

13

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

14

Which 3 syndromes may present with panhypopituitarism?

Prader Willi
Kallmann
Septo-optic dysplasia

15

What condition is due to increased androgen causing ambiguous genitalia in females and excessive scrotal pigmentation in males?

Congenital adrenal hyperplasia

16

How is CAH inherited?

Autosomal recessive

17

What is the most common cause of CAH?

21 hydroxylase deficiency

18

What lab findings will be present in congenital adrenal hyperplasia?

Low Na
High K
High 17 hydroxyprogesterone

19

How is prenatal screening for CAH performed?

Molecular genetic testing of fetal cells
NOT via amniotic fluid measurement of 17 hydroxyprogesterone

20

What should be done if 17 hydroxyprogesterone assay is positive?

Repeat. If positive again, get serum electrolytes and urinary excretion of Na/k

21

How is congenital adrenal hyperplasia treated?

Hydrocortisone

22

What is the name of primary adrenal deficiency ?

Addison

23

What are the classic symptoms of Addison disease?

Hyperpigmentation due to high ACTH
Low Na and high K due to low aldosterone

24

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)

25

What symptoms can present if a patient abruptly stops taking glucocorticoids?

Signs of adrenal insufficiency ...muscle weakness, decreased BP, increased pulse

26

What 3 studies should be done if you suspect Turner syndrome ?

Karyotype
LH:FSH
TSH (Turner associated with hypothyroidism)

27

What diagnosis should you consider in a short female with scant Breast tissue and pedal edema?

Turner syndrome

28

Which disease should you consider in a patient with disproportionate short stature?

Achondroplasia

29

What disease shows early puberty followed by accelerated growth that ends with short adult height?

Congenital adrenal hyperplasia