Endocrinology

Question 1

Testing for Cortisol Deficiency

Answer 1

24 hour urine cortisol
midnight salivary cortisol
dexamethasone suppression test

Question 2

Hormone that causes onset of Puberty

Answer 2

GnRH

Question 3

low total T4, normal free T4 and TSH

Answer 3

Thyroxine-binding globulin deficiency

Question 4

Adrogen Exposure During Pregancy in first triemster

Answer 4

Wk 0-8: labial adhesion and clitoral enlargement

Wk 8-13: labial adhesion

Question 5

virilization + HTN =

Answer 5

11B hydroxylase deficiency

Question 6

virilization + salt wasting =

Answer 6

21 hydroxylase deficiency

Question 7

incomplete virlizatoin + salt wasting =

Answer 7

3B hydroxysteroid dehydrogenase deficiency

Question 8

Cushing Syndrome
Blue Nevi
Cardiac and skin myxomas
Sexual Precocity

Answer 8

Carney Complex

Question 9

hypothalamic insufficiency
optic nerve hypoplasia
agenesis of the corpus callosum
optic nerve hypoplasia

Answer 9

Septooptic Dysplasia

Question 10

Midfacial anomalies, think of

Answer 10

GH deficiency

Question 11

most common tumor to have aqcuired pitutitary deficiencies

Answer 11

craniopharyngioma

Question 12

Prader Willi Genetics

Answer 12

deletion from the father

Question 13

infants with micropenis, think

Answer 13

GH deficiency

Question 14

Growth Velocity is Normal
Bone Age is Delayed
Family History is Pubertal Delay

Answer 14

constitutional growth delay

Question 15

Growth Velocity is Normal
Bone Age is Normal
Family History of Short Stature

Answer 15

Genetic/Familial Short Stature

Question 16

Decreased Growth Velocity

Delayed Bone Age

Answer 16

GH deficiency or hypothyroidism

Question 17

Schmidt Syndrome

Answer 17

T1DM
adrenal insufficiency
autoimmune thyroiditis

Question 18

Gene on Y chromosome responsible for male phenotype

Answer 18

SRY

Question 19

McCune Albright

Answer 19

precocious puberty
fibrous dysplasia
Cafe Au Lait Spots

Question 20

Kleinfelter Syndrome

Answer 20

47XXY
intellectual disability
adrenarche occurs, but testes and penis remain small

Question 21

47XXX

Answer 21

normal female
speech and language delays by 2 years of age
tall and gangly

Question 22

What cancers are associated with Beckman Weideman

Answer 22

hepatoblastoma

Wilms Tumor

Question 23

Soto Syndrome

Answer 23

grows rapidly initially and then slows to a normal pace

“cerebral gigantism”

Question 24

Most Common Brain Lesion to cause precocious puberty

Answer 24

hypothalamic harmatoma

Question 25

Microcephaly Growth Retardation Syndactlyl Mutation in Cholesterol Synthesis

Answer 25

Smith-Lemli-Opitz

Question 26

Most Common Cause of Congenital Hypothyroidism

Answer 26

Thyroid Dysgenesis

Question 27

enlarged posterior fontanelle

Answer 27

hypothyroidism

Question 28

Adrenoleukodystrophy

Answer 28

very long chain fatty acids | degerenative neurologic disorder, often starts with new-onset clumsliness

Question 29

Donohue Syndrome

Answer 29

``` aka leprechaunism IUGR hypoglycemia, insulin resistance acthanosis nigricans death before 1 ```

Question 30

Kleinfelter has a risk of which cancer?

Answer 30

Breast Cancer

Question 31

Swyer Syndrome

Answer 31

XY pure gonadal dysgenesis | female at birth, but does not develop breasts or menstruation

Question 32

Prolactin increased by

Answer 32

antidopaminergic drugs | TRH

Question 33

Differential for Tall Stature

Answer 33

Klinefelter, Marfan, homocystinuria

Question 34

Central vs Peripheral Precocious Puberty

Answer 34

central: early maturation of HPG axis peripheral: excess secretion of sex hormones from abnormal sources

Question 35

gelastic seizures

Answer 35

hypothalamic harmatomas

Question 36

Which part of puberty prematurity is NEVER normal

Answer 36

premature testelarche = brain tumor

Question 37

TBG increased with

Answer 37

pregnancy, OCP

Question 38

TBG decreased with

Answer 38

nephrotic syndrome

Question 39

APS1 (Whitaker Syndrome)

Answer 39

addison disease autoimmune hypothyroidism chronic mucocutaneous candidiasis

Question 40

Vitamin D Deficienct Rickets vs Familial Hypophosphatemic Rickets

Answer 40

VIt D = high PTH | FHR = normal PTH

Question 41

Scrotal Hematoma, think

Answer 41

Adrenal Hemorrhage

Question 42

Growth Failure Later in Childhood or Adolescense, think about

Answer 42

Craniopharyngioma

Question 43

Red-Green ColorBlindness, think

Answer 43

Kallman syndrome

Question 44

Barr Body

Answer 44

Kleinfelter

Question 45

when to evaluate males for short stature

Answer 45

growing less than 4cm/year

Question 46

5 alpha reductase deficiency

Answer 46

genetic males but females at birth; will have male sex charcteristics at puberty

Question 47

Complete Androgen Insensitivity Syndrome

Answer 47

phenotypic female, intra-abdominal testes

Question 48

Growth Hormone and Sudden Death, think

Answer 48

Prader-Willi