Transcript B2B Ped Endo 2013_Édr Sarah Lawrence

Pediatric Endocrinology
Sarah Lawrence
Division of Endocrinology
CHEO
Outline
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Growth/short stature
Puberty – precocious and delayed
Disorders of Sex Development
Diabetes
Thyroid
Short Stature
Predicted Height
3 boys
age 10
128 cm
BA 8
BA 10
BA 12
Which
will be
taller as
an adult?
177 cm
168 cm
155 cm
Midparental [target] height: males
Father
Target Height
Mother
Midparental [target] height: females
Father
Target Height
Mother
Endocrinopathy
Based on this growth chart,
what is the MOST likely
cause of this boy’s growth
failure?
A. Primary hypothyroidism
B. Craniopharyngioma
C. Down Syndrome
D. Inflammatory Bowel
disease
E. Scoliosis
Chronic Disease
Based on this growth chart,
what is the MOST likely cause
of this boy’s growth failure?
A. Primary hypothyroidism
B. Craniopharyngioma
C. Down Syndrome
D. Inflammatory Bowel disease
E. Scoliosis
Approach to Short Stature
Short Stature
Growth velocity
Target Height
Normal Variant
Familial Short Stature
Pathologic
Constitutional Delay
Proportionate
Prenatal
Idiopathic Short
Stature
IUGR
Dysmorphic syndromes
Chromosomal disorders
Disproportionate
Postnatal
Medications
Chronic disease
Endocrine
Precocious Puberty
Presence of secondary sexual development by age:
8 in a girl
9 in a boy
Puberty Sequence: Girls
Puberty Sequence: Males
Approach to Precocious Puberty
Precocious Puberty
Growth Velocity
Bone Age
Normal
Increased
Normal variant
Pathological
Estrogen
Premature Thelarche
Androgens
Premature Adrenarche
Central
Peripheral
Androgens
Estrogen
Question
A 6 year old girl presents with
pubic hair, axillary hair and
odour and mild acne. Her
growth is as shown. What is
the MOST likely cause of her
precocious puberty?
A. Congenital adrenal
hyperplasia
B. Benign premature thelarche
C. Benign premature
adrenarche
D. Adrenal tumour
E. Central precocious puberty
Question
A 6.5 year old girl presents
with a 10 month history of
breasts and pubic hair. What
is the MOST likely cause?
A. Benign premature thelarche
B. Congenital adrenal
hyperplasia
C. Craniopharyngioma
D. Ovarian tumour
E. Idiopathic central
precocious puberty
Approach to Precocious Puberty: Females
Bone age, GV
Normal
Increased
Normal Variant
Pathological
Estrogen
Androgens
Central
Premature
Thelarche
Premature
Adrenarche
Estrogen
+/- androgens
Peripheral
Estrogen
Androgens
Ovary
Adrenal
Other
Ovary
Adrenal
Other
CAH 29/01/92
Question
A 5 year old boy presents
with pubic hair, growth
acceleration. He has Tanner
4 pubic hair and genitalia with
2 ml testes. What is the
MOST likely diagnosis?
Idiopathic central puberty
B. Congenital adrenal
hyperplasia
C. Hypothalamic tumour
D. Testicular tumour
A.
x
Approach to Precocious Puberty: Males
Bone age, GV
Normal
Increased
Normal Variant
Pathological
Androgens
Central
Premature
Adrenarche
Testes > 4ml
Peripheral
Androgens
Estrogen
Testes
Adrenal
Other
Testes
Adrenal
Other
Delayed Puberty
Absence of secondary sexual development by age:
13 in a girl
14 in a boy
Approach to Delayed Puberty
Delayed Puberty
LH, FSH
Low
High
Central
Peripheral
Constitutional Delay
of Growth and Puberty
Hypothalamic or
Pituitary Cause
Gonadal Failure
Delayed Puberty: Investigations
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Growth records
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Bone age
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LH, FSH
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Sex hormone levels - not needed
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Other hormones as clinically indicated (T4,
TSH, GH, Prolactin, Cortisol)
Delayed Puberty: Treatment
Hyper / Hypogonadotropic Hypogonadism
Boys:
Testosterone intramuscular injection, transdermal
patch/gel or orally, gradually increasing to adult
doses
Girls:
Start with low dose estrogen, increasing over 1-2 years,
then begin cycling with estrogen and progesterone
Ambiguous Genitalia (Disorders of
Sex Development)
46 XY
46 XY
46 XX
46 XY
Development of Internal and External Genitalia
http://www.aboutkidshealth.ca/En/Ho
wTheBodyWorks/SexDevelopmentA
nOverview/Pages/default.aspx
Approach to Disorders of Sex Development
Gonads palpable
No
Unilateral
Probable virilized female
46 XX DSD
Maternal
Fetal
Likely CAH
Hypospadias
Ovotesticular DSD
Mixed Gonadal
Dysgenesis
Bilateral
Undervirilized male
46 XY DSD
Hormonal
Hypospadias
Testosterone
Synthesis Defect
5-a-reductase
deficiency
Genetic syndrome
Androgen Insensitivity
Syndrome (AIS)
Type 1 Diabetes
Epidemiology of Type 1
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Prevalence 0.4% of individuals < 18
years
Increased risk to family members
Sibling
Father with diabetes
Mother with diabetes
Identical twin
5%
6-8%
2-3%
30-50%
Diagnostic Criteria
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FBG > 7.0 mmol/L
OR
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Casual BG > 11.1 with symptoms OR
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2 hour BG in OGTT of > 11.1
Pediatrics: do not need confirmatory sample
on another day in the presence of
unequivocal hyperglycemia and
symptoms.
BG Targets
Age (years)
Premeal
target
(mmol/L)
HbA1c
Target (%)
<5
6-12
< 8.5%
6-12
4-10
< 8.0%
>12
4-7
< 7.0%
DKA: How common is it?
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At diagnosis of diabetes
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Established diabetes
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15-67% present with DKA
1-10% of patients/year
Cerebral edema
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0.4-1% of episodes of DKA
25% mortality, up to 35% with severe
neurologic deficits
Cerebral Edema in DKA
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Who is at risk?
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Increased risk in new onset DM, more
dehydrated and acidotic patients
?treatment factors – rapid infusion of hypoosmolar fluids, use of bicarbonate
Treatment – early intervention is key
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Raise HOB, + intubate, reduce fluids
hypertonic saline, mannitol
DKA: What you need to remember
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The best way to prevent CE-DKA is
to prevent DKA
How do you prevent cerebral edema
once child presents in DKA?
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By remembering a few guiding
principles:
 The younger the child, the greater the
risk
 No insulin bolus
 No fluid bolus, unless in shock (max
10 cc/kg over 20-30 minutes)
Question:
An 8 yo girl is diagnosed with Type 1
diabetes. At what age should you
begin screening for:
a) Microalbuminuria
b) Retinopathy
c) Hypothyroidism
d) Hyperlipidemia
e) Celiac disease
Complication Screening
Complication
Who
When
How
Nephropathy
12 yo and
DM>5 years
Annual
Albumin/creatinine
ratio
Retinopathy
>15 yo and
DM >5 years
Annual
Opthalmoscopy/ fundus
photography
Neuropathy
Post pubertal, poor
control, DM>5 years
Annual
Symptoms, Sensory
exam
Dyslipidemia
All + targeted
Age 12, 17
Fasting lipid profile
Hypertension
All
Twice annual
BP measurement
Thyroid
All
Dx + q1-2y
TSH, TAB
Celiac
Targeted
Symptoms
TTG, IgA
Type 2 Diabetes in Children
and Youth
Presentation of T1DM vs T2DM
Type 1
Type 2
Up to ¼ overweight 85% overweight
Short Course
Indolent course
15-40% DKA
33% ketonuria
5-25% DKA
FHx T1DM in 5-10% FHx T2DM 74-100%
Predominantly white Minority youth
Acanthosis Nigricans
For Children, BMI Changes with Age
BMI
BMI
Boys: 2 to 20 years
BMI
Example: 95th
Percentile Tracking
BMI
Age
BMI
2 yrs
4 yrs
9 yrs
13 yrs
19.3
17.8
21.0
25.1
Genetic and Environmental Risk
factors for T2DM
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Ethnicity
Female gender
Family history T2DM
Intrauterine factors
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Maternal history of gestational diabetes
Large for gestational age (>4 kg)
Small for gestational age (<2.5 kg)
Obesity
Sedentary behaviour
Question
A 13 year old boy with a BMI of 30,
acanthosis nigricans, and a family history of
Type 2 diabetes presents with a random
glucose of 15 mmol/L, negative ketones.
A
What is the medication of first choice?
B
What is the target A1c?
Treatment of T2DM in Youth
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Diabetes education for the family
Setting glycemic targets
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Lifestyle modification
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HbA1c < 7.0%
<10% achieve glycemic targets
Pharmacotherapy
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Metformin has been shown to have short term
efficacy and safety in adolescents
Insulin rescue is required in those with severe
metabolic decompensation at diagnosis
 e.g. DKA, A1C ≥9.0%, symptoms of severe
hyperglycemia, ketonuria
Thyroid Disorders
Approach to Goitre
Goitre
TSH
Elevated
Hypothyroid
Normal
Euthyroid
Thyroid Antibodies
Thyroid Antibodies
+ve
-ve
+ve
Chronic lymphocytic
Goitrogen,
Chronic lymphocytic
thyroiditis
Dyshormonogenesis
thyroiditis
-ve
Colloid goitre
Suppressed
Hyperthyroid
Thyroid Antibodies
Grave's disease,
Subacute thyroiditis
Toxic nodule
Thyroid take home points
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Thyroid disorders are common in
children and adolescents
Most commonly present with goitre
secondary to autoimmune thyroiditis or
a simple colloid goitre
TSH and thyroid antibodies is usually
all that is required to establish the
diagnosis
Thyroid take home points
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Mild elevations of TSH should be verified
on repeat testing
 TSH <10mU/L often normal on repeat
Routine monitoring – q6 months while
growing, q year once adult height
Natural history studies suggest a high rate
of spontaneous resolution with
autoimmune thyroid disease and thus,
repeat testing should be done before
committing to lifelong thyroid hormone
replacement
Thyroid take home points
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Congenital hypothyroidism detected
through newborn screening – they need
more intensive monitoring particularly in
the 1st 3 years of life
Questions?