Growth and Puberty Disorders

Question 1

differentiate between short stature and growth failure

Answer 1

Short stature = height >2SD below the mean for age and gender or >2SD below mid-parental height

Growth failure = abnormally slow growth velocity or crossing 2 percentile lines on the growth chart

Question 2

What is the relationship betwen short stature and growth failure?

Answer 2

** Short stature and growth failure frequently but not always occur together.

For example, a healthy child of short parents will typically have short stature but not growth failure: He/she will grow at a normal growth velocity towards a lower genetic potential.

Conversely, a child of very tall parents can have growth failure but still be taller than the cut-off for short stature of the general population.

Question 3

which growth chart pattern is below?

Answer 3

short stature

Question 4

Which growth chart pattern is below?

Answer 4

failure to thrive

Question 5

Which growth chart pattern is below?

Answer 5

constitutional growth delay

Question 6

Which growth chart pattern is below?

Answer 6

hypothyroidism

Question 7

Which growth chart pattern is below?

Answer 7

growth hormone deficiency

Question 8

Calculate the mid-parental height (i.e. genetic growth potential) of a pediatric patient

Answer 8

For a girl: average of mom’s height and (dad’s height -5”)

For a boy: average of (mom’s height +5”) and dad’s height

Question 9

Describe growth charts findings in a child with “failure to thrive”

Answer 9

deceleration of weight gain to <3% (-2SD)

or

crossing 2 major percentile lines in the first 3 years of life

Question 10

describe growth charts features for a child with “constitutional growth delay”

Answer 10

Fall off the growth curve, (weight first, but height following shortly thereafter.)

Fall off at 2-3 years of life and then normal growth velocity following a percentile shorter than their genetic potential.

Bone age is younger than actual age

Question 11

describe a growth chart pattern that would make you suspicious for an underlying endocrine disorder

Answer 11

Child’s height fell off the growth curve between 6-8y but her **weight % stayed the same until 8-9y. **

Question 12

describe lab values found in primary hypothyroidism

Answer 12

low T4, resulting in high TSH

Question 13

describe lab findings in central hypothyroidism

because the defect is at the level of the brain, what other hormones deficiencies might you expect to occur in thse patients?

what serious condition must you look for in these kids?

Answer 13

low T4 and an inappropriately low or normal TSH

central hypothyroidism often occurs concurrently with growth hormone deficiency and possibly other pituitary hormone deficiencies

brain tumor

Question 14

Describe a typical growth chart pattern of a child with growth hormone deficiency

What might you expect this child to look like (and why)?

Answer 14

Height fell off precipitously between 3-9m with weight following a bit later. (height then weight drop off→ think endocrine)

Might expect child to be to thin, but lack of lean muscle mass gives growth hormone deficiency kids a “chubby” appearance

Question 15

Describe physical findings in a child with Turner’s syndrome

Answer 15

The MC manifestation of all Turner syndrome patients is short stature.

They have an increased carrying angle of their arms, and due to lymphedema in utero, will have extra skin on their neck known as “webbed” neck. They may have small or retracted chins.

Due to their lack of 2 normal X chromosomes (they are XO), almost all will have ovarian failure with resulting delayed puberty

Question 16

understand the clinical significance of delayed bone age in a pediatric patient who is being evaluated for a growth disorder

Answer 16

Growth charts are designed for the general population, which expects that a male will have a growth spurt around age 13-14y, and females at 11-12y, therefore a Constitutional Growth Delay kid will appear to fall further off the curve at that age. Their delayed skeletal maturation correlates with delayed puberty for these patients. Their delay in puberty allows them catch-up growth due to the delay in growth plate closure.

Question 17

Describe a primary care W/U for a patient with growth concerns

Answer 17

1. PLOT height and weight on all kids! (You will almost never be able to spot a poorly growing kid with just your eyes.) →Recheck height and weight if you see something odd
2. Bone age (left hand and wrist) for kids 3yo+
3. Screening labs:
   
   1. Metabolic panels and u/a→renal disorders.
   2. CBC → underlying chronic disease
   3. chromosomal analysis for girls→Turner syndrome
   4. thyroid panel
   5. possibly IGF-1 or IGFBP-3 (screening tests for GH deficiency)
      
      1. stim test only done in endocrinology
   6. inflammatory bowel disease→ a history and ESR are helpful
   7. celiac→ TTG and IgA are needed

Question 18

describe physical changes assoc with adrenarche

Answer 18

pubic & axillary hair, body odor and acne in both sexes

penile enlargement in males (androgens from testes)

Question 19

describe physiology assoc with gonadarche

Answer 19

At the onset of puberty, the hypothalamus begins to secrete GnRH in a pulsatile fashion (first at night)→ stimulates the anterior pituitary to produce luteinizing hormone (LH) and follicle stimulating hormone (FSH)→ stimulate the ovaries in girls to produce estrogen and the testes in boys to produce testosterone.

Question 20

Where does estrogen come from in females? males?

How does it affect our bones?

Answer 20

The ovaries produce estrogen for females, and males produce estrogen by converting testosterone (made in testes) to estrogen via aromatase.

The advancement of bone age (and eventual closure of growth plates)** is due to estrogen in both sexes**.

Question 21

timing of female breast development (gonadarche)

Answer 21

Question 22

timing of menarche in girls

Answer 22

Question 23

Female sex characteristics before what ages would be considered precocious puberty?

Answer 23

<7y (hispanic/AA)

<8 y (caucasian)

Question 24

understand timing of male gonadarche

at what age would a boy be considered to have precocious peberty?

Answer 24

first is testicular growth (stimulated by FSH & LH) at ~12yo,

followed shortly by pubic hair (adrenarche),

penile enlargement ~13yo (adrenarche)

and peak height velocity (~14yo)

       \*\*\*in boys \<9y is precocious puberty

Question 25

describe pubic hair tanner staging

Answer 25

I Preadolescent no sexual hair

II Sparse, pigmented, long, straight, mainly along labia and at base of penis

III Darker, coarser, curlier

IV Adult, but decreased distribution

V Adult in quantity and type with spread to medial thighs

Question 26

Describe female tanner staging for breast development

Answer 26

I Preadolescent

II Breast budding

III Continued Enlargement

IV Areola and papilla form secondary mound

V Mature female breasts

Question 27

Describe male genitalia tanner staging

Answer 27

I Preadolescent

II Enlargement, change in texture

III Growth in length and circumference

IV Further development of glans penis, darkening of scrotal skin

V Adult genitalia

Question 28

Define delayed puberty

(ages and physical findings)

Answer 28

no pubertal signs by 13 y in girls and 14y in boys

or

a lack of progression with no menarche 4 years after puberty onset in girls or incomplete genital growth in males 5 years after puberty onset.

Question 29

What are some congenital, acquired & reversible causes of hypogonadotropic hypogonadism?

(AKA central hypogonadism, when the HPG axis is not working due to low GnRH or LH/FSH)

Answer 29

• Temporary: Constitutional growth delay
• Genetic syndromes: Prader-Willi syndrome, Kallman syndrome
• Pituitary or hypothalamic tumors, cranial irradiation or infection
• Functional: anorexia or malnutrition, excessive exercise, hyperprolactinemia and hypothyroidism.

**The central hypogonadism is reversible when the underlying condition is treated.

Question 30

Hx and PE findings with Prader-Willi syndrome:

Answer 30

infancy→weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development

childhood→insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity

**mild to moderate intellectual impairment and learning disabilities, behavioral problems (temper outbursts, stubbornness, and compulsive behavior such as picking at the skin), sleep abnormalities

PE: narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet, underdeveloped genitals.

**Puberty is delayed/incomplete, and most are infertile

Question 31

Hx and PE findings specific to Kallman syndrome

Answer 31

Kallmann syndrome is a condition characterized by delayed or absent puberty **(hypogonadotropic hypogonadism) **and an impaired sense of smell

Question 32

Hx and PE findings distinguishing Turner syndrome from other causes of hypogonadotropic hypogonadism

Answer 32

FEMALES. short stature, which becomes evident by about age 5

webbed neck, a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems.

One third to one half of individuals with Turner syndrome are born with coarctation of the aorta or abnormalities of the aortic valve .

normal intelligence

Question 33

Hx and PE findings that distinguish Klinefelters syndrome (XXY) from other genetic causes of hypogonadotropic hypogonadism:

Answer 33

A shortage of testosterone →delayed or incomplete puberty, gynecomastia, reduced facial and body hair, infertility.

Some affected individuals also have genital differences including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or micropenis.

adults→ taller than their peers

Children → learning disabilities and delayed speech and language development. They tend to be quiet, sensitive, and unassertive

Question 34

Design an evaluation for delayed puberty

Answer 34

1. History: cranial irradiation, chemotherapy/other radiation, family hx of genetic disorders, exercise/nutrition/eating disorders, previous concerns about growth, sense of smell
2. Height and growth rate: puberty onset in girls typically results in a linear growth spurt, as does mid-late puberty in males
3. Bone age: Delayed puberty will result in a delayed bone age
4. Labs: gonadotropins, testosterone, estradiol (may consider TSH, T4, prolactin, CBC, ESR, BMP)
   
   1. if the GnRH generator (hypothalamus) is functioning, the FSH & LH will be up…….FSH & LH will be low if the defect is at the level of the hypothalamus
   2. Rule out hypothyroidism and prolactinemia as a cause of hypogonadotropic hypogonadism
5. Karyotype: If FSH & LH are elevated, indicating the is functioning, then get a karotype to look for sex chromosome defects

Question 35

Describe characteristics of incomplete precocious puberty

=NOT associated with growth acceleration or bone age advancement, but f/u q 4months

• premature thelarche
• premature adrenarce

Answer 35

premature thelarche→ onset of breast development without other pubertal changes (breast development progresses very slowly or waxes and wanes in size)

• before 2yo is d/t greater ovarian hormone production
• older than 2yo is d/t periodic fluctuations in the HPG axis with temporary FSH secretion
  
  • can get bone age/ estrodiol level if over 3yo

Premature adrenarche →pubic and/or axillary hair, with no evidence of gonardarche,

• boys <9y
• white girls <8y
• AA/Latina girls <7y

Question 36

what is the relative risk of CNS abnormality in male and females with precocious puberty?

Answer 36

In girls, the chance of brain tumor is 5%, in boys 50%.

Question 37

List some of the relatively benign causes of peripheral precocious puberty in females:

Answer 37

ovarian cysts

exogenous estrogens (lavender products and tea tree oil)