Board Review 3/7/2013
Who remembered that daylight savings is this
weekend??
A. I did!
B. Nooooooooo!!!

Developmental stage
characterized by:
 Maturation of
gametogenesis
 Secretion of gonadal
hormones
 Development of secondary
sexual characteristics and
reproductive functions

Pediatricians are
constantly faced with
questions about what is
“normal” during puberty
Changes in GnRH secretion
(increased pulsatility)
result in puberty

Age of onset:
 Girls: 8-13 years
 Thelarche can occur at age 7 in African-American and
Mexican American girls
 Boys: 9-14 years

Sexual Maturity Rating (SMR)
 Used to document a child’s development through
puberty
 Consists of inspection of breast, genital, and pubic hair
development
 Limitation: does not have specific measurements
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Stage 1: prepubertal
Stage 2: girls: thelarche
boys: testicular enlargement (≥4mL)
Stage 3: ongoing
Stage 4: nearly complete
Stage 5: adultlike
Pubertal progression from stage 2 to stage 5 can
take between 2.5-5 years to complete
Which is the correct sequence of pubertal events in
a female?
A. Menarche  thelarche  peak height velocity
 pubarche
B. Thelarche  pubarche  peak height velocity
 menarche
C. Pubarche  thelarche  menarche  peak
height velocity
D. Thelarche  pubarche menarche  peak
height velocity

Males:
 Testicular growth  pubarche  penile growth 
peak height velocity
 Testicular volume < 4mL (2.5cm) is prepubertal
 Reach SMR4 prior to attainment of peak height velocity

Females:
 Thelarche pubarche  peak height velocity 
menarche
 Peak height velocity is typically 1 year before menarche
 Girls height will typically increase ~6-8cm after menarche
has occurred
A mother brings in her 13 year old son at his request due to
his concerns about breast tissue. He has noticed he has a
small amount of breast tissue and wants to know if it can
be removed. He is otherwise developing appropriately
and does well in school. On exam, he is SMR3 for genital
growth and pubic hair. You also notice a small amount of
breast tissue bilaterally under his nipples. What is the
most appropriate course of action?
A. Refer the patient to a plastic surgeon
B. Refer the patient to an endocrinologist for hormone
therapy
C. Order a brain MRI to rule out malignancy
D. Reassure the patient that this is a normal part of
puberty and follow up in 6 months
E. Order FSH and LH levels

Asymmetric breast or testicular development
 Can see up to 1 stage advance of unilateral
development at onset of puberty

Gynecomastia
 50% of boys will have some degree of breast tissue
during puberty
 Typically during pubic hair stage 3 or 4
 Gynecomastia without onset of puberty is concerning
 Lasts less than 1 year
 Can just be observed for resolution

Peak height velocity in
girls occurs earlier
chronologically and in
pubertal staging than in
boys
 Boys growth spurt is
typically 2 years after
girls

Peak height velocity is
more closely correlated
with SMR than
chronologic age

Average prepubertal height velocity
 5-6cm/yr

Average pubertal height velocity:
 Boys = 9-10cm/yr
 Girls = 8-9cm/yr
 Completion of this growth spurt takes 2-4 years

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Longer period of prepubertal growth and greater
pubertal height velocity account for the typical
height discrepancy between males and females
Longitudinal growth chart is much more useful in
determining abnormality of growth versus a single
point in time
A boy comes in with his parents for his 12 year old well-child
check and wants to know how tall he is going to be. His
mother reports that he has been growing but that he is
shorter than most of his peers. His mother is 160 cm (63
in) tall and his father is 172 cm (68 in) tall. With the
exception of his relative short stature, his medical history
is unremarkable. You advise him that the best way to
estimate his potential for growth is to calculate his
midparental target height and compare it to his current
height and his skeletal maturity. Of the following, what is
the BEST estimate of his midparental target height?
A. 160 cm (63in)
B. 165.5cm (65in)
C. 172.5cm (68in)
D. 177.5cm (70in)
E. 182.5cm (72in)


Height is largely determined genetically
Target height can be crudely estimated:
 Average of parents heights in cm
 +6.5cm for boys
 -6.5cm for girls

Bone age can also be used predict height
 Best performed by an endocrinologist
 Keep in mind a bone age can be off from chronologic
age by as much as 2 years and still be normal (ie
constitutional growth delay)

There is a genetic influence on the timing of puberty
 ?autosomal dominant

Earlier puberty: will have tall stature during puberty
compared to peers
 Will complete their growth prematurely and have a lower
peak adult height than expected
 Rapid fusion of their growth plates

Later puberty: short stature in youth but an adult
height that is slightly above expectations
 Slow but constant prepubertal growth of long bones
without rapid maturation of the growth plate

Timing of puberty affects both linear growth rate
and skeletal maturity
A mother brings in her 9 year old daughter because she
saw some blood in her underwear and is concerned that
her daughter has started her period. Menarche for mom
was achieved at age 11. On exam, the girl is well
appearing with no dysmorphic features or rash. She has
SMR stage 1 breast development and no pubic hair
development. Of the following, which is MOST likely
going to elicit a cause for her vaginal bleeding?
A. Obtaining a bone age radiograph
B. Plotting the child’s height and weight on a growth
chart
C. Obtaining serum LH and FSH levels
D. Obtaining a serum estradiol concentration
E. Examination of the genetalia for a foreign body


Genetic influence on age of menarche
Typically occurs at SMR 4 breast development
 Vaginal bleeding at SMR 1-2 is not likely to represent
menarche or be hormonally mediated

Average age of menarche: 12.6 yrs
 Range: 11-14 yrs

Average time of menarche after thelarche: 2 yrs
 Range 0.5 – 5 yrs

No menarche by age 16 warrants investigation
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Physiologic leukorrhea precedes menses by 3-6
months
Immature hypothalamic-pituitary-gonadal axis
at the beginning of menstruation
 50% of menstrual cycles are anovulatory in first 2
years after menarche
 Can cause menstrual irregularity that is normal
A 15 yo boy comes to the ER because of crampy abdominal
pain, diarrhea, and body aches. His siblings also have
diarrhea. Exam reveals no icterus or organomegaly,
although he has increased bowel sounds and mild diffuse
abdominal tenderness. His genetalia are at SMR4.
Amount the results of his lab tests are the following:
Total bilirubin: 0.6mg/dL
ALT: 18U/L
Alkaline phosphatase: 460IU/L AST: 22U/L
Of the following, what is the MOST likely explanation for
these lab results?
A. Physiologic growth spurt
B. Bone malignancy
C. Infectious hepatitis
D. Inflammatory bowel disease
E. Viral gastroenteritis

Hematocrit increases in males when the growth
spurt beings
 After puberty, males normal Hgb = 14-18g/dL
 Females remain lower: 12-15g/dL
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Alkaline phosphatase can increased during a growth
spurt
 Result of rapid bone growth (high osteoblastic activity)
 Can be up to 500IU/L
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Cholesterol concentrations peak in early puberty
Blood pressure gradually increases
 Based on height, sex, age
 <95% requires evaluation

Sleep: 50% decrease in intensity of deep sleep
 Difficulty initiating and maintaining sleep
 Environmental factors play a role as well
 Television, computer, texting in bedroom
 Require 9-9.5 hrs of sleep per night

Girls:
 Thelarche or pubarche before 8yrs
 Thelarche before 7 years for African-American or
Mexican- American
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Boys:
 Pubarche or genital development before 9yrs
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Clinically significant precocious puberty is
suggested if puberty advances rapidly or if it is
accompanied by a growth spurt
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
Most sexual precocity is not serious and does not
need to be treated
Precocity in the 6-8 year range
 Usually not rapidly progressive
 May not require treatment
 May be due to obesity

Idiopathic premature thelarche
 Unilateral or bilateral
 NO pubic hair; NO growth spurt
 Caused by early activation of the hypothalamicpituitary-ovarian axis (FSH secretion)
 Exogenous estrogen source should be considered
You are examining at 6 year old boy during a health
supervision visit. Exam reveals SMR 3 pubic hair.
Of the following, what is the MOST important
initial step to guide your management?
A. Investigate possible exposure to androgens
B. Inquire about the age of puberty in family
members
C. Order an FSH and LH
D. Order a testosterone level
E. Examine the boy’s testicular size

Idiopathic premature pubarche
 Slowly progressive pubic or axillary hair development
 NO breast or testicular enlargement
 Can be idiopathic (hypersensitivity of hair follicles to
circulating androgens) or due to premature
adrenarche or anabolic steroid exposure
 Premature adrenarche: elevated DHEAS
 Occasionally precursor for PCOS or evidence of virilizing
disorder

Premature thelarche or pubarche could be first sign
of progressive true sexual precocity
 Must monitor pubertal development, height velocity, bone
age
 If rapidly progressive, associated with a growth spurt, or
significantly increased bone age  more concerning

Complete precocious puberty:
 Early activation of the HPG axis
 5 times more common in girls
 90% of cases are idiopathic
 In boys, only 50% are idiopathic – more often have organic
cause
 CNS disorders , testicular tumors, adrenal hyperplasia/tumor
 Examining testicles can lead the evaluation: if large – they are
likely the source of androgen

Rapidly progressive precocity:
 Especially before age 6 years
 Always requires investigation
 Intrinsic adrenal or gonadal disorders
 CAH, McCune-Albright, testotoxicosis, neoplasms
 Exogenous hormones

Precocious puberty  risk for premature
epiphyseal fusion
 Short adult stature despite tall stature in childhood
A 7 year old girl is being treated for precocious puberty by an
endocrinologist. On exam she is at SMR 3. Her parents are
pleased with her medical treatment but are concerned because
she does not fit in with her 7-year-old peers that she used to
play with and seems withdrawn around them. She is now
gravitating towards playing with older children in the
neighborhood. The parents ask for advice regarding her
behavior. What is the BEST response to their concerns:
A.
Explain that having older friends is beneficial to her selfesteem, has no risks, and should be encouraged
B.
Explain that their daughter should be treated more maturely
because her body is maturing faster
C.
Recommend counseling to help the girl deal with changes in
her body and to help her learn positive social interactions with
her peers
D.
Suggest the parents call her peers and scold them for teasing
her
E.
Suggest the parents buy her a pet to keep her happy

Girls: emotional problems, low self-image, higher
rate of depression, anxiety, disordered eating
 Shy, withdrawn with same-age peers
 Prefer to be with older individuals
 Risks of premature sexual activity, drug use, etc
 Parents should encourage positive self-image, social
interactions with same-age peers, may need counseling

Boys: higher risk for antisocial/aggressive behaviors,
precocious sexual activity; but high self-esteem

Hirsutism – excessive hair development in a female
 Normal variant when mild and isolated
 When accompanied by menstrual abnormality or when
severe  consider hyperandrogenism
 PCOS accounts for 85% of cases

Gynecomastia
 Transient gynecomastia is normal during puberty
 Breast development in a boy BEFORE puberty is abnormal
 Must rule out feminizing disorder: ie. neoplasm
 Degree of gynecomastia matters
 Mid-adolescent degree of breast tissue can persist (SMR 3-4)
 Can indicate estrogen excess, androgen deficiency, or liver
dysfunction

Definition:
 Girls: lack of breast development by age 13
 Boys: lack of testicular development by age 14
 Prepubertal testicular volume is < 4mL
 Prepubertal penile length is < 7cm
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Typically accompanied by slowed growth
velocity and short stature
Pubic/axillary hair and body odor are due to
increases in adrenal androgens (not the HPG
axis)
 So can still have pubertal delay with the presence of
pubic hair
A 13 yo boy presents for his annual well child visit. His
father is concerned about his son’s stature and pubertal
development. The boy is doing well in school, plays
soccer competitively, and is not concerned about his
growth or development. The boy’s father did not start
shaving until he was a senior in high school and recalls
that he continued to get taller during his first 2 years of
college. On exam, you note SMR 2 pubic hair and
testicles 3 cm in length. The remainder of his exam is
normal. A bone age radiograph demonstrates skeletal
maturity of 11 years. What is the MOST likely diagnosis?
A. Klinefelter syndrome
B. Constitutional growth delay
C. Primary gonadal failure
D. Isolated gonadotropin deficiency
E. Anorexia nervosa

Most delayed puberty is
NOT serious
 Majority is constitutional
delay of pubertal growth
and development (CDP)
 Especially in BOYS
 Boys : 63% of those with
delayed puberty
 Girls :30%
 Strong genetic component
 Mother with menarche at
<14yrs old
 Father with growth spurt at
15-16 yrs
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Variation of normal growth
Normal or near normal growth
rate during prepubertal years
Then reduced tempo of
development
 Height and weight both cross
percentiles
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Caused by a delay in the onset
of HPG activation  delayed
puberty
Once puberty begins, its
course and tempo are normal
Bone age is delayed
Catch-up growth to target
height occurs (might be
slightly lower than MPH)
A 15yo girl presents for her annual health supervision visit.
She has no complaints, and her review of systems is
negative. Her mother is concerned that her daughter has
not yet had menarche. The girl’s height is at the 5th
percentile and her weight is at the 25th percentile. On
physical examination, she has SMR stage 1 breast
development and SMR stage 3 pubic hair. Examination
of the external genitalia reveals a patent vagina and pink
mucosa. Of the following, the BEST next step in
evaluation of this patient is to:
A. Measure serum estradiol
B. Obtain a karyotype
C. Obtain a pelvic ultrasound
D. Reassure the family and see them again in 1 year
E. Obtain more information about the mother’s age of
menarche

Primary hypogonadism (gonadal failure)
 “Hypergonadotropic hypogonadism”
 Elevated gonadotropins
 Particularly FSH

Secondary or teritiatry hypogonadism
 Hypogonadotropic hypogonadism
 Low gonadotropins (FSH, LH)
 Or “normal” but inappropriately low for patient age

Use a bone age to determine if patient has
prepubertal or pubertal bone age
 Helps determine if FSH, LH levels are appropriate for that
bone age

Girls:
 Turner syndrome
(gonadal dysgenesis)
 Can present for the first
time as pubertal delay
 Ovarian damage
 radiation, chemo,
autoimmune

Boys:
 Klinefelter syndrome
 Small testes with normal
pubic hair/penile length
 Testicular damage
 radiation, torsion, mumps
You are following a 14 year old boy who has
prepubertal testicular volume and penile length.
All of the following would distinguish an isolated
gonadotropin deficiency from constitutional
growth delay, EXCEPT
A. Pubertal development that has not started by
age 17
B. Penile length ≤ 5cm
C. Small or difficult to palpate testicles
D. Delayed bone age
E. Anosmia

Isolated gonadotropin deficiency
 Complete or partial deficiency of GnRH
 Leads to decreased or absent secretion of LH and FSH
 Can resemble CDP except:




Puberty does not start by age 17
May have micropenis (≤ 5cm)
Testes are small and difficult to palpate
Kallman syndrome (anosmia)
 Relatively rare in both males and females

Functional gonadotropin deficiency
 More common in females
 Unusually thin
 Under-nutrition:
 Anorexia, chronic illness, excessive exercise
 Mechanism: Excessive exercise: decreased body fat 
decreased leptin concentration  reversible
gonadotropin deficiency
 Also at risk for low bone mass due to chronic low
estrogen
 In males: more often due to chronic illness

Functional gonadotropin deficiency


Chronic illnesses: sickle cell, celiac, JIA, CF, Chron’s, CRF,
severe asthma
Other causes:

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Hypothyroidism
Panhypopituitarism

Midline defects, trauma, tumor


Absence of any signs of puberty after the age of
13 years in girls or 14 years in boys merits
investigation
Premature arrest of previously normal growth
rate in an adolescent demands thorough
evaluation

Bone age
 Typically delayed 2 years in CDP
 Can help predict adult height

LH and FSH
 Elevated in primary hypogonadism
 Girls  order karyotype
 If not elevated, consider CDP or gonadotropin deficiency
 Can measure after GnRH stimulation

Total testosterone (boys)
 Delayed puberty <40ng/dL
 Puberty underway >50ng/dL
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Estradiol (girls)
Other: thyroid studies, IGF-1, head imaging
Referral to endocrinologist
Parents of a 15yo boy diagnosed with constitutional growth delay
are concerned that their son is being bullied by his 10th grade
classmates. His grades have declined from As to Bs, and he says
he dislikes school. He is in good health; he exercises and eats in
moderation. On exam his height and weight are at the 10th
percentile, and his genitalia are SMR 1. When you speak to him
in private he becomes tearful and explains that he is afraid to
change for gym and that his friends wont talk to him. He and his
parents ask for advice. Of the following, the BEST response is
to:
A.
Offer reassurance and arrange for 6 month follow up
B.
Recommend caloric supplements
C.
Refer the family for behavioral counseling
D.
Refer the boy for a psychoeducational evaluation
E.
Refer the boy to an endocrinologist for re-evaluation and
possible hormonal therapy

Boys: concern about being short and
underdeveloped
 Report teasing, low self-esteem
 May drop out of sports
 Occasionally see declining academic performance and
school avoidance

Girls: fewer concerns than boys
 Report feeling “different”
 Some report feeling the delay affected their success at
school, work, or socially
 But typically not a problem


Referral to endocrinologist
CDP: Short physiologic courses of androgen
replacement therapy may help the self-image of
delayed boys
 Injections preferred
 Brief therapy (4-5 months), then stop
 Re-assess linear growth, testicular size
 For girls: oral estrogens for 4-6 months

Permanent hypogonadism
 Boys: testosterone injections/patch/gel
 Girls: estrogens (oral/patch)
You are seeing a 14 yo female for her annual well child
exam. She is there with her mother who is concerned
that her daughter has not yet had her menses. The
mother’s menarche was at age 13. The patient began
breast development at age 12. On exam, the patient is
well appearing and has SMR stage 4 breast development
and SMR stage 5 pubic hair. You consult her growth chart
and note that she has been growing appropriately along
the 60th percentile for height and weight. Of the
following, what is the next best step in management?
A. Obtain a urine pregnancy test
B. Draw serum LH and FSH levels
C. Obtain a bone age radiograph
D. Reassure the mother and follow up in 1 year
E. Obtain a karyotype

Primary amenorrhea: lack of menses by 15-16
years; or within 3 years of thelarche
 Pregnancy!, anatomic abnormalities,delayed puberty,
ovarian pathology, adrenal disease, hypothalamic or
pituitary disorders, disorders of sexual development

Secondary amenorrhea: cessation of menstrual
periods for 90 days or more
 Pregnancy!, anovulatory disorders: PCOS, nutritional
disturbance, hyperprolactinemia


Oligomenorrhea: infrequent periods
DUB: bleeding excessive in amount or frequency

Irregularity is common in first year of menses but
should still investigate any unusual degree of
irregularity:
 Missing a period for 90 days
 Bleeding more often than at 21day intervals
 Bleeding for more than 7 days or very heavy bleeding
 Bleeding for more than 10 days is NOT physiologic
 Failure to establish a regular period by 2 years

Don’t forget complete androgen insensitivity
 Genetic male with normal breast development, scanty
pubic hair, primary amenorrhea
(We are sticking to the content specs ONLY)

Definition of
adolescence is not
based on age norms,
but by the
developmental tasks
that are achieved
during this stage

That is a lot to expect
from a 12 year old…

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
We just spent an hour talking about this but…
Rapid body changes can effect an adolescents sense
of self
Variations in the timing of puberty can have a
psychological impact
 Early puberty
 Males: greater self-confidence; greater academic/athletic
success
 Females: lower self-confidence; concern about body image
 Late puberty – opposite generally true

Rate of emotional/cognitive development does NOT
always parallel the rate of physical maturation
A single father of one of your 13 year old female patients calls you
because he is concerned about something he found in his
daughter’s bedroom. She is an avid soccer player and he states
that he found a box of pictures of her soccer coach under her
bed with hearts drawn on them. He is very concerned because
his daughter has come home late from soccer practice multiple
times over the past week. He seems upset and asks you if his
daughter is pregnant. What is the MOST appropriate response?
A.
Advise him to bring the girl in to the office for a pregnancy test
and STD screening
B.
Advise him to bring the girl in to the office to examine her for
signs of abuse
C.
Reassure the father that crushes are a normal part of
adolescent behavior and advise him to set reasonable limits
about her after practice activities
D.
Immediately report the coach to the police
E.
Refer the girl for psychologic counseling

Four key components




Separation from parents
Identification with a peer group
Creating a sense of personal identity
Exploration of sexuality

Separation from parents
 Begins early
 Parental acceptance of an adolescent’s separation
often enables the adolescent to psychologically return
later in life
 Adolescents often look to other adults as role models
 “Crushes” on idealized adults are common
 Can see periods of regression and dependency on
parents during this stage as well
 Not a linear process

Identification with peer
group
 Typically happens earlier in
adolescence
 Important means of beginning
the separation from family
 Younger peer group: same
sex, similar dress/grooming,
behavior
 “loners” who do not identify
with any peers may have
psychologic difficulties
 Peer groups have a powerful
influence on healthy and
unhealthy behaviors
 Smoking, alcohol, drugs, sex,
risk-taking, school attitude

Sense of personal identity
 Some degree of rebellion, risk-taking, testing of limits is
part of the search for identity
 Can involve sexual behavior, alcohol, drugs, thoughtless or
dangerous behavior
 Require clear, firm, caring limits from parents and physicians
 Repeated high-risk behavior or testing limits of authorities
could indicate turmoil in the family
 Important to obtain more information about family/social
background
 Common risk factors for delinquent behavior
 Parental psychiatric illness, learning disabilities, history of serious
head trauma, severe behavioral problems in childhood

Sense of personal identity
 Despite risks, experimentation is essential to adolescent
development and when safe, should be encouraged
 Experimenting with various styles of dress, hair, etc is part of
the search for identity
 Important for family to encourage/foster a positive selfimage
 Modeling of healthy behaviors, conflict resolution
 Demonstrate acceptance of the adolescent; praise them
 Poor self-image correlates with many adolescent problems
 Adjustment issues, school, substance abuse, sexual acting out,
etc)
All of the following are true statements about the
impact of illness on the self-esteem for adolescents,
EXCEPT:
A. A medical illness can make an adolescent feel
flawed and alienated from his/her peers
B. Illness can lead to greater dependence on parents
C. Support groups or camps can help reduce the sense
of isolation that illness can bring
D. Non-visible illnesses such as diabetes do not have a
significant effect on adolecents’ self-esteem
E. Psychotherapy is a strategy used to help
adolescents cope with illness

Physical illness
 Chronic illness may adversely affect an adolescents
achievement of independence and positive self-image
 Illnesses that affect appearance (acne, physical
deformity) AND
 Non-visible health conditions (DM, epilepsy, learning
disabilities) can have the same emotional problems

Rejection of authority and risk-taking tendencies
may also include rejection of medical
advice/treatment

Exploration of sexuality
 Transient homosexual experimentation is not
uncommon in early and mid-adolescence
 Experimentation is normal and to be expected
 Sexual orientation is consolidated during late
adolescence
 Physician’s role: to help adolescents understand the
risks of their behavior and to be a nonjudgemental
source of information
Which type of thinking is characteristic of
childhood and early adolescence?
A. Concrete
B. Pretend/imaginary
C. Symbolic
D. Abstract
E. Object permanence

Cognition evolves from concrete thinking in
childhood/early adolescence to abstract
reasoning during late adolescence
 Concrete thinking deals largely with physically present
or real objects in problem solving
 Consequences?
 Limited ability of early adolescents to imagine
consequences of risky behavior
 Cannot link cause and effect with health behavior
(smoking, overeating, drugs, alcohol, reckless driving)


Abstract thinking allows to think hypothetically and
develop abstract concepts to guide decision making
Changes happening in the brain that affect decision
making

Some of the last areas to develop
are the capacity to evaluate risk
and reward in decision making,
emotion regulation, long-term
planning

?more reckless behavior

Role of physician and parent
 Health advice more effective if adapted for the
cognitive developmental level of the patient

Discussion of difficult decisions that adolescents
are likely to face BEFORE they occur
 So decisions are less based on the emotional pressure
of the moment


Upper-to-lower (U:L) segment ratio can be used to detect subtle
abnormalities of growth and development
Lower segment: distance from the pubic symphysis to the floor
(in a standing patient)
 Subtract from the patient’s height to obtain the upper segment value


The U:L ratio is then calculated using the two values
Infants: legs are relatively shorter than the rest of the body
 Typical U:L ratio of 1.7

As children grow, the U:L ratio decreases
 U:L of 1.0 at 10 years of age
 After puberty, the U:L ratio is 0.85 - 0.95.

Can be used to determine mildly precocious puberty:
 Tall stature, advanced bone age
 U:L ratio < 1