Endocrine

Question 1

Diabetes Mellitus presentation

Answer 1

Presentation:

• polyuria
• polydipsia
• polyphagia
• wt loss

Up to 25% in ketoacidosis

• vomiting
• ab pain
• dehydration
• kussmaul respirations

Question 2

Diabetic ketoacidosis

Answer 2

Gluocse > 300 mg/dl

Ketonemia
acidosis
glucosuria
ketonuria

Tx:

• correct dehydration + electrolytes
• insulin

Question 3

Critera to dx diabetes

Answer 3

Random glucose >=200

Fasting glucose >=126

2h glucose tolerance >=200

Question 4

Congenital hypothyroidism

Answer 4

Deficiency of thyroid hormone

Usually 2/2 thyroid dysgenesis (no thyroid!)

Females > males

Signs:

• prolonged jaundice
• poor feeding
• large tongue
• constipation
• umbilical hernia
• fontanels stay wide open
• hypotonia

Low T4, high TSH

Question 5

Acquired hypothyroidism

Answer 5

1 cause = thyroiditis

Down, turner, Kleinfelter carry higher risk for autoimmune thyroid dz

Growth deceleration is 1st sign

Lymphocytic thryroiditis - growth retardation + goiter are 1st signs

Question 6

Graves disease

Answer 6

HLA B8 + DR3

Hyperactivity
Emotional lability
DEc school performance
Tremors
Inc appetite
Exophthalmos (2/2 binding antibodies to extraocular muscles)
Tachy, palps

Question 7

Congenital Adrenal Hyperplasia

Answer 7

Cortisol deficiency

21 hydroxylase deficiency (most common)

11B hydroxylase deficiency

17 alpha hydroxylase deficiency

Question 8

Which CAH have virilization?

Answer 8

ones ending in “1”

21
11

Question 9

Which CAH have HTN?

Answer 9

Ones starting with “1”

17
11

Question 10

21 hydroxylase deficiency

Answer 10

Decreased Mineralcorticoid
Decreased Cortisol
Increased sex hormones

Hypotension
Hyperkalemia
Increased renin
Increased 17-hydroxyprogesterone

Masculinization –> pseudohermaphoditism in females

Confirm with ACTH stimulation test - will have exaggerated 17-hydroxyprogesterone response

Question 11

11 B hydroxylase deficiency

Answer 11

Decreased aldosterone
Increased 11 deoxycorticosterone
Decreased cortisol
Increased sex hormones

HYPERtension

Masculinziation

Question 12

17a hydroxylase deficiency

Answer 12

Increased mineralcorticoids
Decreased cortisol
Decreased sex hormones

HTN
Hypokalemia

Pseduohermaphodirism in males
Females OK

Question 13

Prenatal dx of CAH

Answer 13

17-OH progesterone
ANdrostenedione

Measurements

Inc 17-OH in 21 hydroxylase deficiency

Question 14

Tx CAH

Answer 14

Glucocorticoids to prevent androgen production and virilization
- need more in times of stress

Mineralocorticoid and Na replacement in salt wasters

Question 15

Waterhouse-Friderichsen syndrome

Answer 15

In pt w/ meningococcemia

Sudden vasomotor collapse + skin rash 2/2 adrenal hemorrhage

almost 100% mortality

Question 16

1 cause of congenital hypothyroidism in US

Answer 16

Thyroid dysgenesis

Question 17

Albright hereditary osteodystrophy

Answer 17

The disorder is characterized by a lack of responsiveness to parathyroid hormone = pseudohypoparathyroidism

HIgh PTH + PO4
Low Ca

Short stature
MR
Increased bone density throughout body
Shortened 4th and 5th fingers
Obesity + round facies + short neck
Subcapsular cataracts
Cutaneous and subQ calcifications
Perivascular calcifications of basal ganglia

Question 18

McCune–Albright syndrome

Answer 18

Suspected when 2/3 present:

• precocious puberty
• Polyostotic fibrous dysplasia = bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone
• Unilateral Café-au-lait spots

Question 19

Menke’s syndrome

Answer 19

Presents in 1st months of life

Hypotherima
Hypotonia
Myoclonic seizures

Chubby, rosy cheeks
kinky, colorless friable hair
MR
Low serum Cu and ceruloplasmin levels found – copper absorption/transport problem is the cause