ENDO

Question 1

Deficiency of growth hormone ± other hormones; also delay in pubertal development is common; results in postnatal growth impairment corrected by growth hormone

Answer 1

Hypopituitarism

Question 2

Congenital Hypopituitarism SSx

Answer 2

° Normal size and weight at birth; then severe growth failure in first year

° Infants—present with neonatal emergencies,

Question 3

Examples of Neonatal emergencies in pts with congential hypopit

Answer 3

e.g., apnea, hypoglycemic seizures, hypothyroidism, hypoadrenalism in first weeks or boys with microphallus and
small testes ± cryptorchidism

Question 4

SSx of Acquired hypopituitarism:

Answer 4

Findings appear gradually and progress: growth failure; pubertal failure, amenorrhea;
symptoms of both decreased thyroid and adrenal function; possible DI

Question 5

Screening for hypopituitarism

Answer 5

Screen for low serum insulin-like growth factor (IGF)-1 and IGF-binding
protein-3 (IGF-BP3

Question 6

Definitive test for hypopituitarism—

Answer 6

growth-hormone stimulation test

Question 7

If there is a normal response to hypothalamic-releasing hormones, the pathology
is located within the ________

Answer 7

hypothalamus.

Question 8

Bone age of pts with hypopituitarism—

Answer 8

skeletal maturation markedly delayed (BA 75% of CA)

Question 9

Treatmenthypopituitarism—

− Classic growth-hormone deficiency—_______

Answer 9

recombinant growth hormone

Question 10

Indications—growth hormone currently approved in United States for

Answer 10

− Documented growth-hormone deficiency
− Turner syndrome
− End-stage renal disease before transplant
− Prader-Willi syndrome
− Intrauterine growth retardation (IUGR) without catch-up growth by 2 years of age
– Idiopathic pathologic short stature

Question 11

Hyperpituitarism

• Primary—rare; most are ______

Answer 11

hormone-secreting adenomas

Question 12

Screening for hyperpituitarism

Answer 12

Screen—IGF-1 and IGF-BP3 for growth hormone excess; confirm with a glucose
suppression test

Question 13

When to Tx hyperpituitarism

Answer 13

Treatment only if prediction of adult height (based on BA) >3 SD above the mean
or if there is evidence of severe psychosocial impairment

Question 14

Breast tissue in the male: common (estrogen: androgen imbalance)

Answer 14

Physiologic Gynecomastia

Question 15

Physiologic Gynecomastia Tx

Answer 15

• If significant with psychological impairment, consider danzol (anti-estrogen) or surgery
(rare)

Question 16

− Girls—sexual development age <8 years

− Boys—sexual development age <9 years

Answer 16

Precocious Puberty

Question 17

Precocious Puberty MC etiology

Answer 17

− Sporadic and familial in girls

− Hamartomas in boys

Question 18

SSX of Precocious Puberty

Answer 18

advanced height, weight, and bone age; early epiphyseal closure and early/fast advancement of Tanner stages

Question 19

Definitive test for Precocious Puberty

Answer 19

GnRH stimulation test; give intravenous GnRH analog for a brisk, leuteinizing
hormone response

Question 20

Tx for Precocious Puberty

Answer 20

Treatment—stop sexual advancement and maintain open epiphyses (stops BA advancement) with leuprolide

Question 21

•____________
− Usually isolated, transient (from birth due to maternal estrogens)
− May be first sign of true precocious puberty

Answer 21

Premature thelarche

Question 22

Congenital hypothyroidism—most are ________(i.e., from thyroid gland)

Answer 22

primary

Question 23

Causes of Sporadic or familial; with or without a goiter

Answer 23

° Most common is thyroid dysgenesis (hypoplasia, aplasia, ectopia); no goiter
° Defect in thyroid hormone synthesis—goitrous; autosomal recessive
° Transplacental passage of maternal thyrotropin (transient)
° Exposure to maternal antithyroid drugs

Question 24

MC etiologies of Acquired hypothyroidism

Answer 24

Hashimoto; thryroiditis is most common cause; may be part of autoimmune polyglandular syndrome

Question 25

WHen does Hashimoto usually present?

Answer 25

adolescence

Question 26

First sign of Hashimoto?

Answer 26

First sign usually deceleration of growth

Question 27

What type of Autoimmune Polyglandular Disease * Hypoparathyroidism * Addison disease * Mucocutaneous candidiasis * Small number with autoimmune thyroiditis

Answer 27

Type I

Question 28

What type of Autoimmune Polyglandular Disease * Addison disease, plus: * Insulin-dependent DM * With or without thyroiditis

Answer 28

Type II (Schmidt syndrome)

Question 29

MCC og HYperthy

Answer 29

• Almost all cases are Graves disease

Question 30

Common associations of pts with Graves

Answer 30

In whites, association with HLA-B8 and DR3 is also seen with other DR3-related disorders (Addison disease, diabetes mellitus, myasthenia gravis, celiac disease).

Question 31

What other labs can be done for Graves

Answer 31

− Increased T4, T3, free T4 − Decreased TSH − Measurable TRS-AB (and may have thyroid peroxidase antibodies

Question 32

Etiologies of PTH deficiency

Answer 32

− Aplasia/hypoplasia—most with DiGeorge or velocardiofacial syndrome − X-linked recessive—defect in embryogenesis − Autosomal dominant—mutation in calcium-sensing receptor − Postsurgical (thyroid) − Autoimmune—polyglandular disease − Idiopathic (cannot find other cause)

Question 33

MC SSx of PTH def

Answer 33

− Laryngeal and carpopedal spasm | − Seizures (hypocalcemic seizures in newborn; think DiGeorge)

Question 34

Lab evaluation of PTH deficiency

Answer 34

− Decreased serum calcium (5–7 mg/dL) − Increased serum phosphorus (7–12 mg/dL) − Low 1,25 [OH]2D3 (calcitriol) − Low parathyroid hormone (immunometric assay)

Question 35

What are normal values in PTH def

Answer 35

Normal magnesium | Normal or low alkaline phosphatase

Question 36

Acute Tx of neonatal tetany

Answer 36

Emergency for neonatal tetany → intravenous 10% calcium gluconate and then 1,25[OH]2D3 (calcitriol); this normalizes the calcium

Question 37

Chronic Tx for hypoparathy

Answer 37

Chronic treatment with calcitriol or vitamin D2 (less expensive) plus adequate calcium intake (daily elemental calcium)

Question 38

* Most common cause of rickets | * Poor intake, inadequate cutaneous synthesis

Answer 38

Vitamin D Deficiency

Question 39

Labs of Vitamin D Deficiency

Answer 39

• Low serum phosphate, normal to low serum calcium lead to increased PTH and increased alkaline phosphatase

Question 40

Primary Hypo PTH Calcium Phosphate Alkaline Phosphatase

Answer 40

Decreased Low High Normal

Question 41

Primary Hypo PTH Calcium Phosphate Alkaline Phosphatase

Answer 41

Decreased Low High NL or SL increased

Question 42

Primary Hyper PTH Calcium Phosphate Alkaline Phosphatase

Answer 42

Increased High Low Increased

Question 43

Secondary Hyper PTH Calcium Phosphate Alkaline Phosphatase

Answer 43

Increased NL to SL decreased Low Huge increase

Question 44

MCC of CAH

Answer 44

• 21-Hydroxylase deficiency (most common)

Question 45

Pathophysio of CAH

Answer 45

− Decreased production of cortisol → increased ACTH → adrenal hyperplasia

Question 46

Problem with CAH

Answer 46

− Salt losing (not in all cases; some may have normal mineralocorticoid synthesis)

Question 47

What increasis in CAH

Answer 47

Precursor steroids (17-OH progesterone) accumulate

Question 48

CAH Shunting to androgen synthesis → ____________

Answer 48

masculinizes external genitalia in females

Question 49

Labs for CAH

Answer 49

− Increased 17-OH progesterone − Low serum sodium and glucose, high potassium, acidosis − Low cortisol, increased androstenedione and testosterone − Increased plasma renin and decreased aldosterone

Question 50

Definitive Dx for CAH

Answer 50

measure 17-OH progesterone before and after an intravenous bolus of ACTH

Question 51

Tx of CAH

Answer 51

− Hydrocortisone − Fludrocortisone if salt losing − Increased doses of both hydrocortisone and fludrocortisone in times of stress

Question 52

MCC of Cushing Syndrome

Answer 52

Exogenesis—most common reason is prolonged exogenous glucocorticoid administration.

Question 53

Most important labs for Cushing

Answer 53

− Dexamethasone-suppression test (single best test) − Determine cause—CT scan (gets most adrenal tumors) and MRI (may not see if microadenoma)

Question 54

Etiology of Type 1 DM

Answer 54

T-cell−mediated autoimmune destruction of islet cell cytoplasm, insulin autoantibodies (IAA

Question 55

Reason for MAC in Type 1 DM

Answer 55

Accelerated lipolysis and impaired lipid synthesis → increased free fatty acids → ketone bodies → metabolic acidosis and Kussmaul respiration → decreased

Question 56

Dx of IFG

Answer 56

° Fasting blood sugar 110–126 mg/dL or 2-hour glucose during OGTT<200 mg/dL but ≥125 mg/dL

Question 57

Dx of DM

Answer 57

° Symptoms + random glucose ≥200 mg/dL or ° Fasting blood sugar ≥126 mg/dL or ° 2 hour OGTT glucose ≥200 mg/dL

Question 58

Labs of DKA

Answer 58

Diabetic ketoacidosis—hyperglycemia, ketonuria, increased anion gap, decreased HCO3 (or total CO2), decreased pH, increased serum osmolality

Question 59

Who should be screened for Type II DM

Answer 59

All who meet the BMI criteria + 2 risk factors

Question 60

How to screen pts with Type II DM

Answer 60

fasting blood glucose every 2 years beginning at age 10 years or onset of puberty if above criteria are met