Pediatric Endocrine Disorders

Question 1

Precocious Puberty

Answer 1

Onset of secondary sex characteristics before 8 in girls and 9 in boys

Question 2

What defines Precocious Puberty in girls?

Answer 2

Progressive breast development

+ crossing percentile lines upward on linear growth chart

Question 3

What defines Precocious Puberty in boys?

Answer 3

Testicular/Penile enlargement

+ crossing percentile lines upward on the liner growth curve

Question 4

Describe the growth rate seen with Precocious Puberty?

Answer 4

Initially fast

–> Overall end height is LESS than normal

Question 5

With Precocious Puberty how will the Bone Age be?

Answer 5

ADVANCED Bone Age

Question 6

What imaging studies should be acquired with Precocious Puberty?

Answer 6

Bone age
MRI of the head
US of gonads

Question 7

What are 5 serum markers to measure with Precocious Puberty?

Answer 7

LH
FSH
Estradiol
Testosterone
17-hydroxyprogesterone

Question 8

With Turner Syndrome, what is the most common karyotype? What is the next common option?

Answer 8

Non-mosaic = 45XO

– Next common would be 46XX but a short arm on one X is missing

Question 9

How will those with Turner Syndrome look?

Answer 9

Short stature
Webbed neck/excess skin
Wide shield shaped chest
Widely spaced nipples

Question 10

Describe the sexual development with Turner Syndrome?

Answer 10

Gonadal dysgenesis = streak ovaries = Primary Amenorrhea and NO puberty

Question 11

What 2 conditions is Turner Syndrome associated with?

Answer 11

Congenital heart disease

Horseshoe kidney

Question 12

What is Premature Adrenarche?

Answer 12

Development of coarse, dark pubic/axillary hair before 8 in girls and 9 in boys

Question 13

Development of pubic/axillary hair before 8 in girls and 9 in boys?

Answer 13

Premature Adrenarche

Question 14

Can there be body odor, acne, oily hair with Premature Adrenarche?

Answer 14

Yes

Question 15

Usually is Premature Adrenarche benign or malignant?

Answer 15

Benign condition

Question 16

What commonly causes Premature Adrenarche?

Answer 16

Early maturation of Zona Reticularis

Question 17

When the Bone Age assessment is done with Premature Adrenarche, if it is normal or slightly advanced, what is likely the cause?

Answer 17

Early maturation of zona reticularis

Question 18

When the Bone Age assessment is done with Premature Adrenarche, if it is > 2 SD from normal or if there are other signs of puberty, what should be worked up?

Answer 18

Precocious puberty

Question 19

When the Bone Age assessment is done with Premature Adrenarche, if it shows significant growth acceleration, you need to?

Answer 19

Do further workup

Question 20

What is Premature Thelarche?

Answer 20

Breast tissue development before 8 in girls

Question 21

When does Premature Thelarche/Adrenarche need further workup?

Answer 21

• Other secondary sex characteristics present
• Bone Age > 2 SD from normal
• Significant growth acceleration

Question 22

When does Premature Thelarche/Adrenarche need further workup?

Answer 22

• other secondary sex characteristics present
• Bone Age > 2 SD from normal
• significant growth acceleration

Question 23

What can cause congenital hypothyroidism? (2)

Answer 23

Absent/Abnormal thyroid gland

Inadequate thyroid hormone production

Question 24

Congenital Hypothyroidism is a common cause of?

Answer 24

Intellectual disability

Question 25

Congenital Hypothyroidism can be asymptomatic or symptomatic. What are some symptoms?

Answer 25

``` Hoarse cry Coarse facial features Lethargy and Hypotonia Constipation Poor feeding Jaundice ```

Question 26

What facial changes are present with Congenital Hypothyroidism?

Answer 26

Coarse facial features Macroglossia Large Fontanelles

Question 27

Hoarse cry, coarse facial features, lethargy, hypotonia, jaundice, constipation, feeding issues, etc. are associated with?

Answer 27

Congenital Hypothyroidism

Question 28

What usually causes Acquired Hypothyroidism?

Answer 28

Autoimmune Thyroiditis

Question 29

In addition to the normal Hypothyroidism symptoms, what can be seen in a child that acquired it?

Answer 29

Short stature with declining growth velocity Poor performance in school Abnormal pubertal development

Question 30

In addition to the normal Hypothyroidism symptoms, what else can be seen in a child that acquired it?

Answer 30

Short stature with declining growth velocity Poor school performance Abnormal pubertal development