Endocrinology / Genitalia

Question 1

severe hypoglycemia, wandering nystagmus, and small penis size in neonate. What does he have?

Answer 1

hypopituitarism

Question 2

Micropenis length in full term neonate

Answer 2

less than 2 to 2.5 cm

Question 3

Causes of micropenis

Answer 3

1. gonadotropin deficiency
2. primary testicular dysfunction, such as with Klinefelter syndrome
3. Partial androgen insensitivity syndrome (but usually more ambiguous genitalia)

Question 4

Name syndrome associated with gonadotropin deficiency associated with anosmia or hyposmia, WITHOUT hypoglycemia

Answer 4

Kallmann syndrome

Question 5

Syndrome where cryptorchidism and micropenis are common, but also Hypoglycemia due to poor intake, hypotonia, poor feeding, respiratory problems, and dysmorphic features

Answer 5

Prader-Willi

Question 6

Adolescent girl has sudden onset nausea, vomiting, right lower abd /pelvic pain without fever and is hemodynamically stable. Can have dysuria/frequency. Top of your ddx: ___ and mode of dx: ____

Answer 6

Right ovarian twist
Pelvic ultrasound with doppler

Question 7

What disease causes bilateral absence of the vas deference?

Answer 7

Cystic Fibrosis

Question 8

Lab findings in hypoparathyroidism

Answer 8

HypoCa
High Phos (PTH causes phos excretion through kidney)
Normal/high Vit D 25-OH (PTH stimulates 1alpha-hydroxylase in kidney to form 1, 25 vit D
–> increase absorption of Ca in gut)

Question 9

Lab findings in hypoparathyroidism

Answer 9

HypoCa
High Phos (PTH causes phos excretion through kidney)
Normal/high Vit D 25-OH (PTH stimulates 1alpha-hydroxylase in kidney to form 1, 25 vit D
–> increase absorption of Ca in gut)

Question 10

In hypoparathyroidism, which type of vitamin D supplement do you need?

Answer 10

vit 1,25 D because PTH stimulates 1a-hydroxylase to turn vit D 25-OH to vit D 1,25 to absorb Ca in gut.

Question 11

Name of syndrome with similar lab findings as hypoparathyroidism. What differentiates it?

Answer 11

Albright hereditary osteodystrophy

Distinction: short stature, obesity, rounded face, brachydactyly, mild cognitive impairment

Question 12

Lab findings in vit D deficiency

Answer 12

Hypo Ca
low Phos (PTH is stimulated and makes kidneys excrete phos)

Question 13

Definition of delayed puberty in girls

Answer 13

lack of breast development at age 13

Question 14

Girl with turner syndrome has not started puberty at age 11-12, next step?

Answer 14

order gonatotropin levels (FSH/LH) –> in hypergonadotropic hypogonadism (primary ovarian failure), FSH and LH would be HIGH

Guidelines recommend starting estradiol for pubertal induction at age 11-12 years for Turner syndrome AFTER primary ovarian failure is confirmed

Question 15

Mode of estradiol to be given in Turner syndrome

Answer 15

transdermal

Question 16

Definition of primary amenorrhea

Answer 16

no menarche by age 15

Question 17

“low-energy balance”

Answer 17

low ft4 with nl tsh
low bmi
low-normal fsh, lh

Question 18

Addison Disease (primary adrenal insufficiency) lab findings

Answer 18

Decreased cortisol, aldosterone
High K, low cortisol
high ACTH (hyperpigmentation)
High renin (in response to low aldosterone)
Low sodium
Dehydration

Question 19

Lab findings in secondary adrenal insufficiency (pituitary dysfunction)

Answer 19

low ACTH
low cortisol
NORMAL aldosterone (because RAAS is intact)
normal K
sodium can be low
No skin hyperpigmentation

Question 20

Chronic mucocutanous candidiasis, hypoparathyroidism, primary adrenal insufficiency. Dx?

Answer 20

Autoimmune polyglandular syndrome type 1 (APS-1)

Question 21

Tx of adrenal insufficiency

Answer 21

hydrocortisone
fludrocortisone if primary

Question 22

First step of management in DKA

Answer 22

fluid bolus 10 ml/kg over 30-60 min to prevent cerebral edema

after fluids, THEN insulin

Question 23

Criteria for constitutional delay

Answer 23

bone age < chronological age
Look at bone age and what his actual height is

Question 24

Bone age in familial short stature

Answer 24

equal chronological age

Question 25

Growth hormone deficiency finding in terms of height

Answer 25

low height velocity <5cm/year

Question 26

Criteria for starting statin in children

Answer 26

ldl level persistently 160 mg/dL or higher despite dietary management.

Question 27

Causes of precocious puberty

Answer 27

adrenal gland, gonads, a human chorionic gonadotropin (hCG)–secreting tumor (in males), exogenous exposure to sex steroid, and severe hypothyroidism

Question 28

Most sensitive sign of HPA axis activation in central cause of precocious puberty

Answer 28

LH >0.3 In boys, testicular size >4ml In girls, development of breast tissue

Question 29

What does measurement of 17-hydroxyprogesterone attempt to diagnose/rule out

Answer 29

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Question 30

Growth pattern in growth hormone deficiency and lab to send

Answer 30

Delayed bone age Low insulin-like growth factor-1

Question 31

In a boy not growing and has intrapartum excessive hemorrhage, what should you think about?

Answer 31

Sheehan syndrome (necrosis of pituitary gland) or pituitary hemorrhage

Question 32

how does acquired growth hormone deficiency present?

Answer 32

Slowing of linear growth at 6-12 mo, delayed bone age midline defects small penis, cryptorchidism (if gonadotropin deficiency is present)

Question 33

Most common cause of congenital hypothyroidism

Answer 33

thyroid dysgenesis (lack of or incomplete development of thyroid gland and etopic thyroid tissue)

Question 34

What happens with infant when mother has Graves disease?

Answer 34

maternal receptor-blocking antibodies can suppress infant thyroid gland, causing transient hypothyroidism

Question 35

If infant's newborn screen shows TSH >40, next step?

Answer 35

start levothyroxine 10-15 microgram/kg/day by age 2 wk immediately without waiting for confirmatory test result

Question 36

How should levothyroxine be given?

Answer 36

on finger with small amount of breastmilk or formula or water NOT through bottle (has affinity to plastic)

Question 37

Male infant born with hypospadias, small penis, testes, 46,XY karyotype, high LH, testosterone and DHEA, dx?

Answer 37

partial androgen insensitivity syndrome (PAIS)

Question 38

What is the process of normal sex differentiation?

Answer 38

Bipotential internal and external structures SRY sex determining region) and other Y chromosome parts --> testes Leydig cells secrete testosterone (testes) Sertoli cells secrete anti-Mullerian hormone (AMH) Testosterone STABILIZES wolffian ducts --> epididymis, vas deferens, seminal vesicles, ejaculatory ducts. AMH --> regresion of Mullerian structures (uterus, fallopian tubes, cervix, upper vagina) Testosterone ---(5alpha-reductase)--> DHT DHT virilizes external genitalia --> growth of phallus, fusion of labioscrotal folds, igration of urethra to normal position on penis

Question 39

Next step in a person with type 2 DM, hyperglycemia, polyuria, no acidosis

Answer 39

insulin NOT fluids

Question 40

Signs and symptoms of hypercalcemia due to immobilization

Answer 40

wheelchair bound, pathologic fracture appropriate PTH and PTHRH (low) in setting of hypercalcemia

Question 41

Serology for Graves Disease

Answer 41

+ TSH receptor antibody

Question 42

physical exam of congenital adrenal hyperplasia and karyotype

Answer 42

There are mullerian internal organs (uterus), 46,XX. But there is a penis, +/- fused labioscrotal fold without gonads within. Excess 17a-hydroxyprogesterone is converted to DHEA --> testosterone (virilized female) In 46,XY, they appear normal, however with salt wasting (hypoaldosteronism, low cortisol, high testosterone)

Question 43

Management of phimosis

Answer 43

If not pathologic, do nothing, just keep penis clean If pathologic, can do topical steroids Paraphimosis: emergency

Question 44

When should you be concerned of ovarian masses

Answer 44

cysts <6 cm ones that do not self-resolve after 2-3 menstrual cycles complicated cysts

Question 45

Labial adhesion that is asymptomatic in <5 yo, what's the management

Answer 45

observation It is self limiting If symptomatic, trial of topical estrogen cream

Question 46

What age should cryptorchidism be corrected by?

Answer 46

12 mo

Question 47

What is the normal penis size of a term newborn

Answer 47

2-2.5 cm

Question 48

Definition of gynecomastia

Answer 48

>0.5 cm diameter of fibroglandular mass Benign: SMR 3-4; aromatization of androgen to estrogen

Question 49

Length rules of thumb

Answer 49

Increases 50% by 1 yo Doubles by 4 yo Triples by 13 yo After 2 yo, velocity is 5 cm/year until puberty

Question 50

Weight growth rules of thumb

Answer 50

Doubles by 4 mo Triples by 12 mo Quadruples by 24 mo After 2 yo, velocity is 5 lb/year until adolescence

Question 51

Pain referred to jaw, thyroid tenderness, fever, usually after URI

Answer 51

subacute thyroiditis Tx: NSAIDs. May develop transient hypothyroidism

Question 52

Cause of neonatal thyrotoxicosis

Answer 52

Transplacental delivery of TSI antibodies from mother with Graves disease Self limiting Maternal Ab will degrade by 6 mo May need methimazole or BB

Question 53

Albright's hereditary osteodystrophy

Answer 53

Resistance to TSH, LH/FSH, PTH Causes hypocalcemia (pseudohypoparathyroidism)-- causes bracydactyly Heterotopic intramembranous subcutaneous calcifications

Question 54

Rachitic rosary finding, dx?

Answer 54

Rickets Enlargement of costochondral junction along anterolateral chest

Question 55

Rickets (cause, lab findings)

Answer 55

Vit D deficiency High PTH, low phos, low Ca (cannot compensate for low Ca)

Question 56

Mutation in FGF23 signaling

Answer 56

hypophosphatemic rickets Inability to renally absorb phos

Question 57

Hypophosphatasia gene and lab finding

Answer 57

ALPL low ALP

Question 59

When can you start GnRH therapy for gender affirming transition?

Answer 59

Smr 2