Endocrine

Question 1

What is the definition for precocious puberty in males and females?

Answer 1

Males: testicular enlargement before age 9
Females: thelarche before age 8

Question 2

What is considered delayed puberty in females and males?

Answer 2

Females: >14 for secondary signs, >16 for amenorrhea (Nelson’s: >13 years)
Males: >15 years (Nelson’s: >14 years)

Question 3

What is the treatment for hypocalcemia in the context of hypoparathyroidism? What genetic syndrome is associated with this?

Answer 3

Calcitriol

DiGeorge

Question 4

What growth velocity in a child should make you suspicious for an endocrinopathy?

Answer 4

Suspect endocrinopathy if >3 years old with low isolated height velocity (ie. <4-5cm/year)

Question 5

What is the progression of puberty for girls?

Answer 5

Boobs, pubes, growth, flow

• Thelarche (breast bud), adrenarche (pubic hair) are earliest signs (SMR2)
• Peak growth spurt 1 year after thelarche (SMR3-5) and before the onset of menarche
• Menarche usually 2-3 years after thelarche (SMR4)

Question 6

What is the progression of puberty for boys?

Answer 6

Sac, hair, shout, shoot and shoot up

• First sign is scrotal thinning and increased testicular size (>4mL)
• Pubic and axillary hair (adrenarche)
• Deepening voice, facial hair, acne
• Sperm development at SMR3 with ejaculation and nocturnal emissions
• Growth spurt late in puberty

Question 7

What health issues do you need to be aware of for patients with achondroplasia?

Answer 7

• Craniocervical junction compression w/ sm. foramen magnum; hydrocephalus, upper airway obstruction or thoracolumbar kyphosis (uncommon)
• Delayed motor milestones
• Central and OSA
• FTT
• Hypotonia
• Obesity
• Frequent AOMs which can lead to hearing loss

Question 8

How is achondroplasia diagnosed?

Answer 8

• Clinical characteristics (short stature, macrocephaly, trident configuration of hands, long, near N trunk length) and x-rays with spec. findings: square shape of pelvis w/ small sacrosciatic notch, short pedicles of vertebrae w/ lumbar/thoracic interpedicular narrowing, shortening of long bones, proximal femoral radiolucency chevron shape of distal femoral epiphyses
• Genetic testing is not required in all children with clinical diagnosis, FGFR3 testing should be done when atypical presentation

Question 9

How is achondroplasia inherited?

Answer 9

• Autosomal dominant meaning 50% chance of passing onto children
• FGFR3 gene

Question 10

What is the most common complication of achondroplasia in adulthood?

Answer 10

-Compression of spinal cord or nerve roots due to lumbosacral spinal stenosis

Question 11

What are the main 3 features of McCune-Albright Syndrome?

Answer 11

Precocious puberty, cafe-au-lait spots, fibrous dysplasia

Question 12

What is the target HbA1C for children and adolescents with T1DM?

Answer 12

=7.5

• 2 hour post prandial is 5-10mmol/L
• Fasting preprandial 4-9mmol?L

Question 13

Name 4 indications for Growth Hormone therapy.

Answer 13

Currently approved pediatric indications in Canada are:

• Growth hormone deficiency (approved in 1987)
• Turner syndrome (1997)
• Small for gestational age (2006)
• Idiopathic short stature (2006)
• SHOX deficiency (2008)
• Chronic renal insufficiency is an approved indication for some growth hormone formulations (1996)
• Prader-Willi syndrome

Question 14

Describe SMR1 for females.

Answer 14

Pubic hair and breasts are preadolescent.

Question 15

Describe SMR2 for females.

Answer 15

Pubic hair: Sparse, lightly pigmented, straight, medial border of labia.
Breasts: Breast and pailla elevated as small mount; diameter of areola increased.

Question 16

Describe SMR3 for females.

Answer 16

Pubic hair: Darker, beginning to curl, increased amount.

Breasts: Breast and areola enlarged, no contour separation.

Question 17

Describe SMR4 for females.

Answer 17

Pubic hair: Coarse, curly, abundant, but less than in adult.

Breasts: Areola and papilla form secondary mound,

Question 18

Describe SMR5 for females.

Answer 18

Pubic hair: Adult feminine triangle, spread to medial surface of thighs.
Breasts: Mature, nipple projects, areola part of general breast contour.

Question 19

Describe SMR1 for males.

Answer 19

Pubic hair: None.
Penis: Preadolescent.
Testes: Preadolescent.

Question 20

Describe SMR2 for males.

Answer 20

Pubic hair: scant, long, slightly pigmented.
Penis: minimal change/enlargement.
Testes: Enlarged scrotum, pink, texture altered.

Question 21

Describe SMR3 for males.

Answer 21

Pubic hair: Darker, starting to curl, small amount.
Penis: Lengthens
Testes: larger

Question 22

Describe SMR4 for males.

Answer 22

Resembles adult type, but less quantity; coarse, curly.
Penis: Large, glans and breadth increase in size.
Testes: Larger, scrotum dark

Question 23

Describe SMR5 for males.

Answer 23

Pubic hair: adult distribution, spread to medial surface of things
Penis: adult size
Testes: adult size

Question 24

What is Kallman Syndrome?

Answer 24

Combination of impaired/absent sense of smell, gonadotropin deficiency and is also associated with ASD, unilateral renal agenesis, and colour blindness.

Question 25

What is Klinefelter?

Answer 25

Klinefelter (47 XXY) occurs in 1:500 males; common features include reduced intelligence, adolescent gynecomastia, and small firm testes (rarely >5ml in volume, ~25% adult volume); often have tall and thin habitus and may have delayed puberty; phallus is often smaller than average and infertility is near 100%

Question 26

What is the most common central lesion implicated in central precocious puberty?

Answer 26

Hypothalamic hamartoma