EndocrinologyEndocrinology

Pediatric Board ReviewPediatric Board Review

CalciumCalcium

An otherwise healthy 6-week infant presents with a An otherwise healthy 6-week infant presents with a generalized seizure. She is exclusively breast fed. The generalized seizure. She is exclusively breast fed. The child is somewhat sleepy with a non focal examination.child is somewhat sleepy with a non focal examination.Glucose 88; Na 141, Ca 5.1, Phos 9.1, Mag 2.1Glucose 88; Na 141, Ca 5.1, Phos 9.1, Mag 2.1The most likely diagnosis is:The most likely diagnosis is:

1 2 3 4

0% 0%0%0%

1.1. PseudohypoparathyroidismPseudohypoparathyroidism

2.2. HypoparathyroidismHypoparathyroidism

3.3. Vitamin D deficiencyVitamin D deficiency

4.4. Albright’s hereditary Albright’s hereditary osteodystrophyosteodystrophy

10

Actions of PTHActions of PTH

1.1.

2.2.

CaCa POPO44

NET EFFECTNET EFFECT

25 OH Vit D25 OH Vit D

1,25 (OH)1,25 (OH)22 Vit D Vit D

1 hydroxylase

3.3.

Gut

This same 6-week infant with hypoparathyroidism This same 6-week infant with hypoparathyroidism (Glucose 88; Na 141, Ca 5.1, Phos 9.1, Mag 2.1)(Glucose 88; Na 141, Ca 5.1, Phos 9.1, Mag 2.1)

What is an important diagnostic consideration What is an important diagnostic consideration (i.e. what is the underling disorder causing the (i.e. what is the underling disorder causing the hypoparathyroidism)?hypoparathyroidism)?

DiGeorge syndrome – thymic aplasia, congenital heart DiGeorge syndrome – thymic aplasia, congenital heart disease, immune deficiency disease, immune deficiency

Biochemical changes in ricketsBiochemical changes in rickets

Ca PO4 Bone Urine

NMinimalchanges

Stage 1

N Rickets

AminoaciduriaPhosphaturiaGlycosuriaBicarbonaturia

Stage 2

Initial

Ca:PO4:Alk Phos:

9.7 3.12514

2 ½ weeks

9.8 3.52185

4 months

10.5 6.5 518

Which is consistent with vitamin D deficiency rickets?

1 2 3 4 5

0% 0% 0%0%0%

1.1. Normal Normal LowNormal Normal Low

2.2. LowLow LowLow Low Low

3.3. LowLow HighHigh High High

4.4. Low Low Normal NormalNormal Normal

5.5. NormalNormal LowLow High High

Calcium Phos Alk Phos 10

Choose correct answerChoose correct answer

A.A. Vitamin D deficiency ricketsVitamin D deficiency rickets

B.B. Renal osteodystrophy (renal rickets)Renal osteodystrophy (renal rickets)

C.C. BothBoth

D.D. NeitherNeither

1. Increased phosphate level

2. Increased PTH level

3. Increased creatinine level

B

C

B

THYROIDTHYROID

Baby A, born on 5/27/10. Newborn screening tests, Baby A, born on 5/27/10. Newborn screening tests, performed on 5/29/10 revealed: performed on 5/29/10 revealed: Normal rangeNormal rangeTSHTSH 37 37 µµIU/mlIU/ml < 20< 20T4T4 10.1 10.1 µµg/dlg/dl 9-199-19Which statement is most accurate:Which statement is most accurate:

1 2 3 4

0% 0%0%0%

1. Baby A has congenital hypothyroidism warranting urgent therapy

2. Baby A will develop mental retardation if untreated

3. Baby A likely does not have any thyroid abnormality

4. Baby A has an altered hypothalamic set-point for T4

10

Venipuncture: (1/25/10) Normal rangeTSH 488 IU/ml (0.3-5.5)T4 1.2 g/dl (4.5-12.5)

You are contacted by your state Neonatal Thyroid Screening Program. Baby X was born on 1/4/10. His newborn screening tests, performed on 1/6/10 revealed:

 Initial filter paper Normal rangeTSH >200 IU/ml < 20T4 2.1 g/dl 9-19

 

Congenital hypothyroidismCongenital hypothyroidism

Thyroid dysgenesis/agenesisThyroid dysgenesis/agenesis Prevalence 1 in 4,000 [Whites 1 in 2,000; Blacks Prevalence 1 in 4,000 [Whites 1 in 2,000; Blacks

1 in 32,000]1 in 32,000] 2:1 female to male ratio2:1 female to male ratio Clinical features include:Clinical features include:

hypotonia, enlarged posterior fontanelle, hypotonia, enlarged posterior fontanelle, umbilical hernia, indirect hyperbilirubinemiaumbilical hernia, indirect hyperbilirubinemia

Laboratory findings:Laboratory findings: Very high TSH and low T4 Very high TSH and low T4 Therapy: Thyroxine – keep TSH in normal rangeTherapy: Thyroxine – keep TSH in normal range

6 month female with congenital hypothyroidism

..following 4 months therapy

A baby with gastroschisis has the following TFTs on day 5 A baby with gastroschisis has the following TFTs on day 5 of life:of life:T4 T4 2.1 2.1 μμg/dL g/dL (4.5-12.5) (4.5-12.5) TSH TSH 2.3 2.3 μμIU/mL IU/mL (0.3-5.0)(0.3-5.0)The most likely diagnosis is:The most likely diagnosis is:

1 2 3 4 5

0% 0% 0%0%0%

1.1. Hypothyroidism due to Hypothyroidism due to thyroid dysgenesis thyroid dysgenesis

2.2. Central hypothyroidismCentral hypothyroidism

3.3. TBG deficiencyTBG deficiency

4.4. Hypothyroidism from Hypothyroidism from excess iodine exposureexcess iodine exposure

5.5. Normal thyroid function Normal thyroid function (as the TSH is normal)(as the TSH is normal)

10

Central hypothyroidism - rareCentral hypothyroidism - rare

TBG deficiencyTBG deficiency1:28001:2800

vs.vs.

Thyroxine (T4)Thyroxine (T4)

Major product secreted by the thyroid Major product secreted by the thyroid Circulates boundCirculates bound to thyroid binding proteins to thyroid binding proteins

- thyroid binding globulin (TBG)- thyroid binding globulin (TBG) Only a Only a tiny fraction (< 0.1%) is freetiny fraction (< 0.1%) is free and diffuses into tissues and diffuses into tissues When we When we measuremeasure T4, we measure the T4 that is T4, we measure the T4 that is bound to bound to

proteinprotein The level of The level of T4T4 is therefore largely is therefore largely dependentdependent on the on the

amount of TBGamount of TBG Changes in T4Changes in T4 may reflect may reflect TBG variationTBG variation rather than rather than

underlying pathologyunderlying pathology

TBG TBG deficiencydeficiency

Central Central hypothyroidismhypothyroidism

Free T4 Low Normal

TBG level Normal Low

T3RU Low High

Thyroid function in a 17 year old:Thyroid function in a 17 year old: Normal rangeNormal rangeTSH:TSH: 3.7 3.7 µµIU/mlIU/ml 0.3-5.50.3-5.5T4:T4: 13.4 13.4 µµg/dlg/dl 4.5-124.5-12

Which of the following medication could explain the thyroid Which of the following medication could explain the thyroid function abnormalityfunction abnormality

1 2 3 4 5

0% 0% 0%0%0%

1. INH

2. Retinoid acid

3. Ciprofloxacin

4. Ortho Tri-Cylen

5. Doxycycline

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Conditions that cause alterations in TBGConditions that cause alterations in TBG

Increased TBGIncreased TBG Decreased TBGDecreased TBGInfancy Familial deficiencyEstrogen Androgenic steroid treatment - OC Pill Glucocorticoids (large dose) - pregnancy Nephrotic syndromeFamilial excess AcromegalyHepatitisTamoxifen treatment

A 12-yr female has diffuse enlargement of the thyroid. She A 12-yr female has diffuse enlargement of the thyroid. She is asymptomatic. Her disorder is most likely associated with is asymptomatic. Her disorder is most likely associated with which of the following pathological processeswhich of the following pathological processes

1 2 3 4 5

0% 0% 0%0%0%

1.1. InfectiousInfectious

2.2. InflammatoryInflammatory

3.3. AutoimmuneAutoimmune

4.4. Toxic (drug)Toxic (drug)

5.5. NeoplasticNeoplastic

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Normal thyroid

Hashimoto thyroiditis

DCDC 16 year 7 month Growth failure x 1 1/2 years

LabsLabs:

TSH: 1008 µIU/ ml (0.3-5.0)T4: <1.0 µg/dl (4-12)

Antithyro Ab. 232 U/ml (0-1)A-perox Ab. 592 IU/ml (<0.3)

Prolactin: 29 ng/ml (2-18)

Cholesterol: 406 mg/dl (100-170)

DCDC

Start of thyroxineStart of thyroxine

BackgroundBackground: Autoimmune destruction of the thyroid Family history in 30-40% Lymphocytic infiltration

ClinicalClinical: Growth failure, constipation, goiter, dry skin, weight gain, slow recoil of DTR

LaboratoryLaboratory: High TSH Anti-thyroglobulin and anti-peroxidase antibodies

TherapyTherapy: Thyroxine

Hashimoto thyroiditisHashimoto thyroiditis

15 year old female with a history of easy fatigability. Found to have an elevated pulse rate at recent MD visit 

Thyroid function: Normal rangeTSH < 0.1 IU/ml 0.3-5.5T4 14.8 g/dl 4.5-12T3 580 ng/dl 90-190

Restlessness, poor attention spanEye changes

Goiter

Tachycardia, wide pulse pressure

Increased GFR- polyuria

DiarrheaMenstrual abnormalities

Myopathy

Antithyroid medication (Methimazole or Propylthiouracil [PTU]) Pros : 25% remission rate every 2 years

Cons: Drug induced side effects - skin rashes, agranulocytosis, lupus-like reaction

Radioactive iodine (131I)Pros : Easy. Essentially free of side effectsCons: Long term hypothyroidism

Surgery

Blockers if markedly hyperthyroid

Therapy for Graves diseaseTherapy for Graves disease::

Sexual differentiationSexual differentiation

Ambiguous genitalia is found in a newborn. The baby is Ambiguous genitalia is found in a newborn. The baby is noted to be hyperpigmented. Ultrasound demonstrates the noted to be hyperpigmented. Ultrasound demonstrates the presence of a uterus. The most useful test to aid in the presence of a uterus. The most useful test to aid in the diagnosis of this medical condition is:diagnosis of this medical condition is:

1 2 3 4 5

0% 0% 0%0%0%

1.1. TestosteroneTestosterone

2.2. 17-hydroxyprogesterone17-hydroxyprogesterone

3.3. Serum sodium and Serum sodium and potassiumpotassium

4.4. DHEASDHEAS

5.5. DHEAS/androstenedione DHEAS/androstenedione ratioratio

10

Cholesterol

Pregnenolone

Progesterone

DOCA

Corticosterone

ALDOSTERONE

17 (OH) pregnenolone DHEA

17 (OH) progesterone Androstenedione

Compound S

CORTISOL

TESTOSTERONE

Desmolase

3--HSD 3--HSD 3--HSD

17-OH

17-OH

21-OH 21-OH

11-OH 11-OH

If she has salt wasting congenital adrenal If she has salt wasting congenital adrenal hyperplasia, which abnormalities are likely to hyperplasia, which abnormalities are likely to develop. True or False for eachdevelop. True or False for each

a)a) Increased serum potassiumIncreased serum potassium

b)b) Decreased serum sodiumDecreased serum sodium

c)c) Decreased bicarbonateDecreased bicarbonate

d)d) Decreased plasma cortisolDecreased plasma cortisol

e)e) Increased plasma renin activityIncreased plasma renin activity

T

T

T

T

T

A 1-year male infant has non palpable testes. A 1-year male infant has non palpable testes. Of the following, the most appropriate next step would be:Of the following, the most appropriate next step would be:

1 2 3 4 5

0% 0% 0%0%0%

1.1. Re-examination in 18 Re-examination in 18 monthsmonths

2.2. Refer the patient for an Refer the patient for an exploratory laparotomyexploratory laparotomy

3.3. Begin therapy with LHRHBegin therapy with LHRH

4.4. Measure the plasma Measure the plasma testosterone after testosterone after stimulation with HCGstimulation with HCG

5.5. Begin therapy with Begin therapy with testosterone enanthate, 50 testosterone enanthate, 50 mg IM monthly for 3 mg IM monthly for 3 months.months.

10

History

9 day old male infant

1 day history of decrease feeding, vomiting and lethargy.

Examination

Ill appearing infant with poor respiratory effort

Vital signs: T 99 F HR 100/min BP 61/40 RR 24/min

Resp: Subcostal retractions but clear to auscultation

Cardiac: Regular rate and rhythm. Normal S1 and S2

Abdomen: Soft, non distended. Non tender. No HSM

Neuro: Lethargic. No focal deficit

Genitalia: Normal male. Bilateral descended testes

Laboratory data:Laboratory data:

WBC 16.7

Hb 16.4

Hct 49

Plt 537 K

Na 121

K 9.3

Cl 83

CO2 6.7

Glucose 163

BUN/Creat 33/0.2CSF:

Chemistry: Protein 74 Glucose 82

Microscopy: WBC 6 RBC 100

Emergency therapyEmergency therapy

Fluid resuscitation:Fluid resuscitation:20 ml/kg Normal saline20 ml/kg Normal saline

GlucocorticoidGlucocorticoid2 mg/kg Solucortef IV2 mg/kg Solucortef IV

Monitor EKGMonitor EKG

Modes of presentationModes of presentation

ClassicalClassical Simple virilizingSimple virilizing Virilizing with salt lossVirilizing with salt loss

““Non classical” / Late onsetNon classical” / Late onset

Therapy and evaluation of therapyTherapy and evaluation of therapy

Glucocorticoid (Hydrocortisone)Glucocorticoid (Hydrocortisone) Monitor growth, 17-OHP, urinary pregnanetriolMonitor growth, 17-OHP, urinary pregnanetriol

Fluorocortisol (Florinef 0.1 – 0.45 mg/day)Fluorocortisol (Florinef 0.1 – 0.45 mg/day) Blood pressure, plasma renin activity (PRA)Blood pressure, plasma renin activity (PRA)

Supplemental saltSupplemental salt Until introduction of infant foodUntil introduction of infant food

History

15 year female presents with primary amenorrhea

Breast development began at 10 years

Examination

Height: 5 ft 7 in Weight 130 lb

Tanner 5 breast development

Scant pubic hair

What is your diagnosis?

XY GenotypeXY Genotype

TestosteroneTestosterone

EstradiolEstradiol

Androgen

Receptor

Estrogen

Receptor

Arom

atase

Complete androgen insensitivityComplete androgen insensitivity

15 yr female presents with primary amenorrhea.15 yr female presents with primary amenorrhea.Breast development began at 10 yBreast development began at 10 yTanner 5 breasts, scant pubic hairTanner 5 breasts, scant pubic hair

Which of the following clinical features is the most likely to Which of the following clinical features is the most likely to give you the correct diagnosisgive you the correct diagnosis

1 2 3 4 5

0% 0% 0%0%0%

1.1. Blood pressure in all 4 Blood pressure in all 4 extremitiesextremities

2.2. Careful fundoscopic Careful fundoscopic examinationexamination

3.3. Rectal examinationRectal examination

4.4. Measurement of blood Measurement of blood pressure with postural pressure with postural changechange

5.5. Cubitus valgus and Cubitus valgus and shield shaped chestshield shaped chest

10

TESTIS

Leydig cells

Sertolicells

Gonadal Primordia

Testosterone

Wolfian ducts DHT

Normal maleext. genitalia

EpidymusVas deferensSeminal vesicles

Female

OVARY

No SRY

No AMH No testosterone

Mullerian ducts

Wolfian ductregression

Normal femaleexternal genitalia

Fallopian tubesUterusUpper vagina

No AMH

Mullerian ductregression

nor DHT

Gonadal Primordia

Y Chromosome TESTIS

SRY

Leydig cells

Sertolicells

Testosterone AMH

Mullerian ductregression Wolfian ducts DHT

EpidymusVas deferensSeminal vesicles

Normal maleext. genitalia

No AMH No testosterone

Mullerian ducts

Wolfian ductregression

Normal femaleexternal genitalia

Fallopian tubesUterusUpper vagina

nor DHT

Gonadal Primordia

Y Chromosome TESTIS

SRY

Leydig cells

Sertolicells

Testosterone AMH

Mullerian ductregression Wolfian ducts DHT

EpidymusVas deferensSeminal vesicles

Normal maleext. genitalia

No AMH No testosterone

Mullerian ducts

Wolfian ductregression

Normal femaleexternal genitalia

Fallopian tubesUterusUpper vagina

nor DHT

Early PubertyEarly Puberty

The earliest sign of puberty in a male is: The earliest sign of puberty in a male is:

1 2 3 4 5

0% 0% 0%0%0%

1.1. Enlargement of the Enlargement of the penispenis

2.2. Enlargement of the Enlargement of the testestestes

3.3. Growth accelerationGrowth acceleration

4.4. Pubic hair growthPubic hair growth

5.5. Axillary hair growthAxillary hair growth

5

2 year old girl with breast development. No growth 2 year old girl with breast development. No growth acceleration. No bone age advancementacceleration. No bone age advancementNo detectable estradiol, LH or FSHNo detectable estradiol, LH or FSHThe most likely diagnosis is:The most likely diagnosis is:

2 year old girl with breast development. No growth 2 year old girl with breast development. No growth acceleration. No bone age advancementacceleration. No bone age advancementNo detectable estradiol, LH or FSHNo detectable estradiol, LH or FSHThe most likely diagnosis is:The most likely diagnosis is:

1.1. Ingestion of her Ingestion of her mother’s OCPsmother’s OCPs

2.2. Precocious pubertyPrecocious puberty

3.3. Premature Premature adrenarcheadrenarche

4.4. Premature thelarchePremature thelarche

5.5. McCune Albright McCune Albright SyndromeSyndrome

10

1 2 3 4 5

0% 0% 0%0%0%

Benign Premature ThelarcheBenign Premature Thelarche

Isolated breast developmentIsolated breast development– 80% before age 2 80% before age 2 – Rarely after age 4Rarely after age 4Not associated with other signs of puberty Not associated with other signs of puberty (growth acceleration, advancement of bone age)(growth acceleration, advancement of bone age)Children go on to normal timing of puberty and Children go on to normal timing of puberty and normal fertilitynormal fertilityBenign processBenign processRoutine follow-up Routine follow-up

5 year female with 6 months of pubic hair growth. Very fine 5 year female with 6 months of pubic hair growth. Very fine axillary hair as well as adult odor to sweat.axillary hair as well as adult odor to sweat.No breast development, no growth spurtNo breast development, no growth spurtThe most likely diagnosis is: The most likely diagnosis is:

5 year female with 6 months of pubic hair growth. Very fine 5 year female with 6 months of pubic hair growth. Very fine axillary hair as well as adult odor to sweat.axillary hair as well as adult odor to sweat.No breast development, no growth spurtNo breast development, no growth spurtThe most likely diagnosis is: The most likely diagnosis is:

1.1. Precocious pubertyPrecocious puberty

2.2. Benign premature Benign premature adrenarcheadrenarche

3.3. Non-classical congenital Non-classical congenital adrenal hyperplasiaadrenal hyperplasia

4.4. Adrenal tumorAdrenal tumor

5.5. PinealomaPinealoma

10

1 2 3 4 5

0% 0% 0%0%0%

Benign Premature AdrenarcheBenign Premature Adrenarche

Production of adrenal androgens before true Production of adrenal androgens before true pubertal development beginspubertal development beginsPresents as isolated pubic hair in mid childhoodPresents as isolated pubic hair in mid childhood– No growth accelerationNo growth acceleration– No testicular enlargement in boysNo testicular enlargement in boysIf normal growth rate, routine follow-upIf normal growth rate, routine follow-upIf accelerated growth and/or bone age If accelerated growth and/or bone age advancement, screen for advancement, screen for – CAHCAH– Virilizing tumor (adrenal/gonadal)Virilizing tumor (adrenal/gonadal)

Choose correct answerChoose correct answer

A.A. Premature theralchePremature theralche

B.B. Premature adrenarchePremature adrenarche

C.C. BothBoth

D.D. NeitherNeither

1. Growth acceleration

2. Normal adolescent sexual development

3. Onset of gonadal function usually in 3-4 years

D

C

B

You suspect a 16 year female has Turner syndrome. The You suspect a 16 year female has Turner syndrome. The most definitive diagnostic test ismost definitive diagnostic test is

1 2 3 4 5

0% 0% 0%0%0%

1.1. Buccal smearBuccal smear

2.2. Chromosome Chromosome analysisanalysis

3.3. Measuring her FSH Measuring her FSH and LHand LH

4.4. Determining her Determining her bone agebone age

5.5. Determining her Determining her testosterone leveltestosterone level

5

5 year old girl with pubic hair and rapid growth. 5 year old girl with pubic hair and rapid growth. She has no breast developmentShe has no breast development

Possible sources of androgens:

1.Liver

2.Adrenal

3.Ovary

4.Pituitary

5.Pineal

T

F

F

F

T

5 year old girl with pubic hair and rapid growth. 5 year old girl with pubic hair and rapid growth. She has no breast developmentShe has no breast development

Which of the following should be considered Answer T or F for each:

a) Central precocious puberty

b) Congenital adrenal hyperplasia

c) McCune Albright syndrome

d) Benign premature adrenarche

e) Adrenal tumor

F

T

T

F

F

When does puberty occur?When does puberty occur?

Classic teachingClassic teaching– 8 -13 in girls 8 -13 in girls (menarche (menarche ~ ~ 2 years 2 years

after onset of after onset of puberty)puberty)

– 9 -14 in boys9 -14 in boys

Case:Breast development: 6 yearsMother had menarche: 9.5 years

WhyWhy

Reactivation of Reactivation of hypothalamic –hypothalamic –pituitary –gonadal pituitary –gonadal axisaxis

Gonadatropin dependent Gonadatropin dependent (central) precocious puberty(central) precocious puberty

Clock turns on earlyClock turns on earlyIdiopathicIdiopathic > 95 % girls> 95 % girls

~~ 50 % boys 50 % boys– Hypothalamic hamartoma (Gelastic seizures)Hypothalamic hamartoma (Gelastic seizures)– NF (optic glioma)NF (optic glioma)– Head traumaHead trauma– NeurosurgeryNeurosurgery– Anoxic injuryAnoxic injury– HydrocephalusHydrocephalus

TreatmentTreatment

WhyWhy– PsychosocialPsychosocial

– HeightHeight

WhatWhat– GnRH agonistGnRH agonist

Gonadotropin independent Gonadotropin independent precocious pubertyprecocious puberty

7 year male presents with 6 month history of pubic 7 year male presents with 6 month history of pubic and axillary hair growth as well as adult body odor. and axillary hair growth as well as adult body odor.

Mother thinks he is growing faster than his peersMother thinks he is growing faster than his peers

No exposure to androgensNo exposure to androgens

PM&SH – nil of note PM&SH – nil of note Mother had menarche at 12 yrMother had menarche at 12 yrFather had normal timing of his pubertyFather had normal timing of his puberty

Medications – noneMedications – none

Height 50Height 50thth percentile (last height at 25 percentile (last height at 25 thth))

Weight 40Weight 40thth percentile percentile

No café au lait maculesNo café au lait macules

No goiterNo goiter

Heart and lungs: normalHeart and lungs: normal

Abdomen: Firm hepatomegaly with irregular borderAbdomen: Firm hepatomegaly with irregular border

Prepubertal Asymmetric Pubertal

Adrenal source Enlarged testicle Precocious puberty

Height 50Height 50thth percentile (last height at 25 percentile (last height at 25 thth))

Weight 40Weight 40thth percentile percentile

No café au lait maculesNo café au lait macules

No goiterNo goiter

Heart and lungs: normalHeart and lungs: normal

Abdomen: Firm hepatomegaly with irregular borderAbdomen: Firm hepatomegaly with irregular border

Genitalia:Genitalia:Pubic hair - Tanner 2Pubic hair - Tanner 2Scrotal thinningScrotal thinningTestes 5 ml bilaterally (pubertal >3 ml)Testes 5 ml bilaterally (pubertal >3 ml)

Rest unremarkableRest unremarkable

7 year male with signs of puberty7 year male with signs of puberty

Pubertal

Central precociousCentral precociouspubertypuberty

Gonadotropins

LH

GGLeydig cell

LABSLABS::

TestosteroneTestosterone 48 ng/dl (<10) 48 ng/dl (<10)

FSHFSH <0.1 mIU/mL <0.1 mIU/mL

LHLH <0.1 mIU/mL <0.1 mIU/mL

TSHTSH 1.0 1.0 μμIU/mLIU/mL

T4 T4 8.9 8.9 μμg/dLg/dL

Precocious puberty in the malePrecocious puberty in the male

Gonadotropins

Prepubertal Pubertal

Gonadotropin independentGonadotropin independent Central precociousCentral precociousprecocious pubertyprecocious puberty pubertypuberty

HCG LH

**McCune Albright

syndrome

GG GG*

Familial malePrecocious puberty(testotoxicosis)

1. Gonadotropin independent PP2. Polyostotic Fibrous Dysplasia3. Café au lait macules

Leydig cell

Final diagnosis: Gonadotropin independent precocious puberty secondary to an βHCG secreting hepatoblastoma

5 year old with breast developmentand growth acceleration - Estradiol 62 pg/ml (<10)- FSH <0.1 mIU/mL- LH <0.1 mIU/mL

Gonadotropin independent precocious puberty

McCune Albright syndrome:1. Café au lait macules 2. Gonadotropin independent

precocious puberty3. Polyostotic fibrous dysplasia

Growth disorders andGrowth disorders anddelayed pubertydelayed puberty

Delayed pubertyDelayed puberty

HypogonadismHypogonadism

HypergonadotropicHypogonadism (↑FSH, LH)

Primary gonadal failure- Chromosomal - iatrogenic (cancer therapy)- autoimmune oophoritis- galactosemia- test. biosynthetic defect

HypogonadotropicHypogonadism (FSH, LH)

Constitutionaldelay

Central Hypogonadism- Isolate gonad. def. - MPHD- Kallmann (anosmia)- Functional

A 15 yr boy has short stature and delayed puberty. He is A 15 yr boy has short stature and delayed puberty. He is now in early puberty (Tanner 2). His parents are of average now in early puberty (Tanner 2). His parents are of average stature. His height and weight are just below 3rd percentile. stature. His height and weight are just below 3rd percentile.

All of the following are likely EXCEPT:All of the following are likely EXCEPT:

1 2 3 4 5

0% 0% 0%0%0%

1.1. A bone age of 12 ½ yearsA bone age of 12 ½ years

2.2. Growth hormone Growth hormone deficiencydeficiency

3.3. Adult height in the normal Adult height in the normal rangerange

4.4. Acceleration of growth and Acceleration of growth and sexual maturation over the sexual maturation over the next 2 years.next 2 years.

5.5. History of normal length History of normal length and weight at birthand weight at birth

10

A 15 yr male has delayed puberty. He also has headaches, A 15 yr male has delayed puberty. He also has headaches, diplopia and increased urination. His height is < 3diplopia and increased urination. His height is < 3rdrd percentile. percentile. Which of the following is the most likely diagnosis?Which of the following is the most likely diagnosis?

1 2 3 4 5

0% 0% 0%0%0%

1.1. Diabetes mellitusDiabetes mellitus

2.2. PinealomaPinealoma

3.3. Cerebellar tumorCerebellar tumor

4.4. CraniopharyngiomaCraniopharyngioma

5.5. Pituitary adenomaPituitary adenoma

10

A 14 yr male has tender gynecomastia (3 cm in diameter A 14 yr male has tender gynecomastia (3 cm in diameter bilaterally). He is in early to mid puberty. In most cases the bilaterally). He is in early to mid puberty. In most cases the best management for this gynecomastia is:best management for this gynecomastia is:

1 2 3 4 5

0% 0% 0%0%0%

1.1. Treatment with an anti-Treatment with an anti-estrogen (e.g. Tamoxifen)estrogen (e.g. Tamoxifen)

2.2. Treatment with an Treatment with an aromatase inhibitoraromatase inhibitor

3.3. Treatment with a dopamine Treatment with a dopamine agonist (bromocryptine)agonist (bromocryptine)

4.4. SurgerySurgery

5.5. ReassuranceReassurance

10

DiabetesDiabetes

A 12 year female patient presents with a 4 week history of A 12 year female patient presents with a 4 week history of polyuria, polydipsia, and marked weight loss. polyuria, polydipsia, and marked weight loss. She is noted to have deep, sighing respiration. She is noted to have deep, sighing respiration. Glucose is 498 mg/dL, pH is 7.06. Her electrolytes show Glucose is 498 mg/dL, pH is 7.06. Her electrolytes show Na 132, K 4.8, Cl 95 CO2 6 BUN 20 Creat 0.9.Na 132, K 4.8, Cl 95 CO2 6 BUN 20 Creat 0.9.The MOST important initial management is:The MOST important initial management is:

1 2 3 4

0% 0%0%0%

1.1. insulin drip 0.1 u/kg/hrinsulin drip 0.1 u/kg/hr2.2. ½ NS with 40 meq K at 2x ½ NS with 40 meq K at 2x

maintenancemaintenance3.3. Bicarb 1 meq/kg slowly Bicarb 1 meq/kg slowly

over 1 hourover 1 hour4.4. 20 ml/kg normal saline 20 ml/kg normal saline

bolus IVbolus IV

10

GTT in a 16 year obese female:GTT in a 16 year obese female:TimeTime Glucose (mg/dL)Glucose (mg/dL)-0--0- 109 109 -120--120- 188 188 Which of the following statements are correct?Which of the following statements are correct?

This patient has:This patient has:

1 2 3 4

0% 0%0%0%

1.1. Type 2 diabetesType 2 diabetes

2.2. Impaired glucose Impaired glucose tolerance but normal tolerance but normal fasting glucosefasting glucose

3.3. Normal glucose Normal glucose tolerancetolerance

4.4. Both impaired fasting Both impaired fasting glucose and impaired glucose and impaired glucose toleranceglucose tolerance

10

Fasting 2 hr post load

< 100 < 140

Normal

≥ 100 ≥ 140

< 126 < 200

Pre-diabetes

≥ 126 ≥ 200Diabetes

Definition of diabetesDefinition of diabetes

This obese patient with IFG and IGT is at risk for the This obese patient with IFG and IGT is at risk for the development of all the following EXCEPTdevelopment of all the following EXCEPT

1 2 3 4 5

0% 0% 0%0%0%

1.1. Type 2 diabetesType 2 diabetes

2.2. DyslipidemiaDyslipidemia

3.3. HypertensionHypertension

4.4. Slipped capital femoral Slipped capital femoral epiphysisepiphysis

5.5. Hashimoto thyroiditisHashimoto thyroiditis

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Metabolic syndrome

A 13 year male has new onset type 1 diabetes mellitus. A 13 year male has new onset type 1 diabetes mellitus. Therapy for this child may include all of the following Therapy for this child may include all of the following EXCEPT:EXCEPT:

1 2 3 4

0% 0%0%0%

1.1. Glargine (Lantus) and Glargine (Lantus) and Lipro insulin (Humalog)Lipro insulin (Humalog)

2.2. Detemir (Levemir) and Detemir (Levemir) and Aspart insulin (Novolog)Aspart insulin (Novolog)

3.3. Metformin Metformin

4.4. Analog insulin Analog insulin administered via an administered via an insulin pumpinsulin pump

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MiscellaneousMiscellaneous

Side effects of corticosteroids include all of the following Side effects of corticosteroids include all of the following exceptexcept

1 2 3 4 5

0% 0% 0%0%0%

1.1. hypertensionhypertension

2.2. hypoglycemiahypoglycemia

3.3. decrease bone decrease bone mineralizationmineralization

4.4. myopathymyopathy

5.5. cataractscataracts

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What is the most likely diagnosis in this newborn infant?

1 2 3 4 5

0% 0% 0%0%0%

1.1. Mother has SLEMother has SLE

2.2. Anasarca from cardiac Anasarca from cardiac failurefailure

3.3. Systemic allergic Systemic allergic reaction reaction

4.4. Congenital nephrotic Congenital nephrotic syndromesyndrome

5.5. Turner syndromeTurner syndrome

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5 year old male with short stature

1 2 3 4 5

0% 0% 0%0%0%

1.1. Turner syndromeTurner syndrome

2.2. VATER syndromeVATER syndrome

3.3. Albright’s hereditary Albright’s hereditary osteodystrophyosteodystrophy

4.4. Noonan syndromeNoonan syndrome

5.5. Goldenhar syndromeGoldenhar syndrome

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A moderately obese adolescent female has irregular A moderately obese adolescent female has irregular periods, hirsutism and acne. periods, hirsutism and acne. Of the following, which is the most likely diagnosis?Of the following, which is the most likely diagnosis?

1 2 3 4 5

0% 0% 0%0%0%

1.1. Cushing syndromeCushing syndrome

2.2. Polycystic ovarian Polycystic ovarian syndromesyndrome

3.3. Virilizing adrenal tumorVirilizing adrenal tumor

4.4. Non-classical CAHNon-classical CAH

5.5. HyperprolactinemiaHyperprolactinemia

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Choose correct answerChoose correct answer

A.A. Diabetes mellitusDiabetes mellitus

B.B. Diabetes insipidusDiabetes insipidus

C.C. BothBoth

D.D. NeitherNeither

1. Osmolality of serum > 300 Osm/L

2. Osmolality of urine > 500 mOsm/L

3. Hypernatremia

2 Na + BUN/2.8 + Gluc/18

Choose correct answerChoose correct answer

A.A. Diabetes mellitusDiabetes mellitus

B.B. Diabetes insipidusDiabetes insipidus

C.C. BothBoth

D.D. NeitherNeither

1. Osmolality of serum > 300 Osm/L

2. Osmolality of urine > 500 mOsm/L

3. Hypernatremia

C

A

B

2 Na + BUN/2.8 + Gluc/18