Endocrine emergencies in pediatrics
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Endocrine Emergencies in Pediatrics. Dr. Majedah Abdul- Rasoul Assistant Professor-Department of Pediatrics Kuwait University. Diabetic Ketoacidosis Diabetic-related hypoglycemia Neonatal/pediatric hypoglycemia Acute adrenal insufficiency Neonatal Pediatric Acute hypercalcemia

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Endocrine Emergencies in Pediatrics

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Endocrine emergencies in pediatrics

Endocrine Emergencies in Pediatrics

Dr. Majedah Abdul-Rasoul

Assistant Professor-Department of Pediatrics

Kuwait University

The 1st Pediatric Emergency Conference-Kuwait 2011


Spectrum of pediatric endocrine emergencies

  • Diabetic Ketoacidosis

  • Diabetic-related hypoglycemia

  • Neonatal/pediatric hypoglycemia

  • Acute adrenal insufficiency

    • Neonatal

    • Pediatric

  • Acute hypercalcemia

  • Acute hypocalcaemia

  • Thyrotoxicosis: Rare

Spectrum of Pediatric Endocrine Emergencies


Case 1

Case 1


History

  • A 12-year-old white girl

  • 5-days H/O:

    • Periumbilical abdominal pain

    • Non-bilious vomiting

    • Fatigue

    • PURPLE discoloration of lips and hands

  • No past medical history, no significant family

    history

History


Er assessment

  • Physical Examination: SICK

    • BP: 60/32, HR: 113 BPM, RR 14 BPM.

    • Dry mucous membranes, lips were “intensely

      cyanotic”, skin was tanned.

  • Initial investigation results:

    • CBC: WBC 17,000/ml (4.5-11,000/ml), Hb 16.7 g/dl

      (12-15.4).

    • Na 126, K 6.2, HCO3 10 (all mEq/L)

    • Glucose 2.8 mmol/L

    • CXR: normal

ER Assessment

ICU


Subsequent course

  • Required ventilatory and high inotropic support,

    BP still low

  • Initial investigation results:

    • Cortisol level in ER was less than 1.0µ/dl (5-25).

    • Maintenance HC was continued  BP improved  inotropic agents stopped.

Endocrine Consultation

Hydrocortisone 100 mg/m² IV

Subsequent Course


Other results

  • ACTH: 1200 (10-60 pg/ml)

  • Renin: 31,488 (50-330 ng/dl/hr)

  • 21-hydroxylase antibody deficiency:

    194.3 (< 1.0µ/ml)

    • Discharged on HC and Florinef

Other Results

Primary Autoimmune Adrenal

Insufficiency


Case 2

Case 2


History1

  • 1 yr 9 m Syrian girl presented with:

    • Lethargy

    • Loss of weight

    • Vomiting

    • Refusal of feed

    • Up rolling eyes and loss of consciousness of 15 min duration

    • Depressed level of consciousness

2 weeks

History


Past history

  • Product FTND

  • H/O poly-hydramnios

  • Normal milestones

  • Vaccinated up to age

  • At 10 m age became ill in Syria required IVF !!!!

Past History


Family history

  • No H/O neonatal deaths

  • 8 sibs married & having N kids

15 healthy sibs both gender

Family History


Initial assessment in er

  • Physical Examination:

    • Febrile 38.9ºC, BP 90/50, stable other vital signs.

    • Drowsy, moderately dehydrated, CYANOSIS OF

      THE LIPS

  • Investigation:

    • RBS, renal function with electrolytes, toxicology screening

  • Management:

    • D 10% bolus given followed by 0.45 NS D5 %

Initial Assessment in ER


In the ward

  • Failing to thrive, wt below 5thcentile (50th of 12 months)

  • O2 sat 99%

  • Conscious, oriented, crying

  • Generalized tanning of skin

  • Increased pigmentation of lips, gums, nape of neck

    & abdomen

In the Ward


Endocrine emergencies in pediatrics

  • Abdomen was soft, liver 2cm BCM

  • Normal female external genitalia

  • Bilateral slippery masses felt in inguinal region


Results of the investigations

  • RBS 0.6 mmol/l

  • Na 113 mmol/l

  • K 6.6 mmol/l

  • Cl 86 mmol/l

  • Urea 8.9 mmol/l

  • pH 7.2

  • HCO313

Results of the Investigations


Subsequent management

  • RBS check by glucometer normal

  • Bolus of NS followed by 0.45 NS D5

  • IV hydrocortisone

  • Blood sent for hormonal investigation

  • Other investigations for diagnosis

Subsequent Management


Other investigations

  • US abd & inguinal region

    • Gonads seen in both inguinal regions with testis like echo texture measuring 0.4 cm

    • No uterus or ovaries visualized

    • Adrenals were reported “normal”

    • Genitogram:

      • Vagina seen blind ended separate from urethra

    • Chromosomal analysis:

    • 46XY

Other Investigations


Endocrine emergencies in pediatrics

ACTH

Cholesterol

PregnenoloneProgesterone 11-deoxycorticosteroneAldosterone

(<0.5),(<0.5) (<1),(<1) (<30) (<30 )

17-OH Pregn.17OHP11-DeoxycortisolCortisol

(-),(<10)(<0.3) (<0.3) (16.5) (16.9)

DHEAAndrostenedioneEsterone

(<0.8) (<0.8)

AndrostenediolTestosterone Estradiol

(0.24),(0.29)

StAR

P450scc

3BHSD

21OH

11BOH

17a-OH

17a-OH

21OH

3BHSD

11BOH

C-17,21 Lyase

3BHSD

17BHSD

Low values

(before) (after) ACTH Stimulation)

3BHSD


Special investigations

  • DNA sample sent to Dr Katsumata (Japan):

    • StARmuataion was –ve

    • DAX1 mutation –ve

    • SF-1 –ve

  • The patient had homozygous mutation A359V in

    exon of P450scc gene.

  • Parents are heterozygous for A359V mutation.

Special Investigations

Congenital Adrenal Hyperplasia: P450 mutation


Endocrine emergencies in pediatrics

  • Subsequent management:

    • Bilateral gonadectomy

    • Reconstruction of vagina at later stage

    • Sex hormone replacement around puberty to induce secondary sexual characteristics to have a sexually functioning infertile female.


Adrenal insufficiency

Adrenal Insufficiency


Back to basic adrenal anatomy

Medulla

ZonaGlomerulosa: Mineralocorticoids

ZonaFasiculata: Glucocorticoids

ZonaReticularis: Androgens

Back to Basic: Adrenal Anatomy


Back to basic hpa axis

Back to Basic: HPA axis


Endocrine emergencies in pediatrics

Back to Basic: RA System


Endocrine emergencies in pediatrics

Adrenal Physiology

  • Cyclic secretion controlled by time of day, HPA

  • axis, renin-angiotensin system, serum potassium

  • levels

  • Stress increases basal glucocorticoid and mineralcorticoid levels 5-10 fold

    • Occurs within minutes


Endocrine emergencies in pediatrics

Corticosteroids

  • Three classes (by effect):

    • Glucocorticoids

    • Mineralcorticoids

    • Androgenic steroids


Endocrine emergencies in pediatrics

Corticosteroids

  • Regulate fat, glucose, protein metabolism

  • Catecholamine and b-adrenergic receptor synthesis

  • Maintain vascular tone and cardiac contractility

  • Control endothelial integrity/vascular permeability


Endocrine emergencies in pediatrics

Corticosteroids

  • Cortisol

    • Controlled by HPA axis

    • Hypothalamus  CRH and arginine vasopressin in circadian rhythm (max 2-4am)

    • Anterior Pituitary  ACTH

    • Adrenal cortex  cortisol

    • Peak @ 8am; declines throughout day


Endocrine emergencies in pediatrics

Miniralocorticoids

  • Regulated via renin-angiotensin system

    & serum potassium levels:

    • Diminished GFR juxtaglomerular apparatus

      release of prorenin

    • Aldosterone release  Na & H2O resorption at

      distal tubules (K is lost)

    • Minor hyperkalemia can stimulate aldosterone secretion directly


Endocrine emergencies in pediatrics

Adrenal Insufficiency vs Crisis

  • Basal failure in adrenal insufficiency

    • Leads to insidious wasting disease

  • Stress failure results in adrenal crisis

  • Life-threatening

  • Absence of glucocorticoids is most critical


Endocrine emergencies in pediatrics

Adrenal Insufficiency

  • Primary = failure of adrenal glands

  • Secondary = failure of HPA axis

    • Usually due to chronic exogenous glucocorticoid administration

    • pituitary failure

  • Tertiary = Hypothalamic dysfunction


Endocrine emergencies in pediatrics

Primary Adrenal Insufficiency : Etiologies

Acquired

Autoimmune

AIDS

Tuberculosis

Bilateral injury

Hemorrhage

Necrosis

Metastasis

Idiopathic

Congenital

Congenital adrenal hyperplasia

Wolman disease

Adrenal hypoplasia congenita

Allgrove syndrome (AAA)

  • Syndromes

  • Adrenoleukodystrophy

  • Kearns-Sayre

  • Autoimmune polyglandular

  • syndrome 1 (APS1)

  • APS2


Endocrine emergencies in pediatrics

Primary Adrenal Insufficiency : Etiologies

Acquired: Addison’s Dis

Autoimmune

AIDS

Tuberculosis

Bilateral injury

Hemorrhage

Necrosis

Metastasis

Idiopathic


Thomas addison 1860 1793

  • 1st described in 1855

  • Refers to acquired primary adrenal insufficiency

  • Does not confer specific etiology

    • Usually autoimmune (~80%)

Thomas Addison:(1860-1793)


Endocrine emergencies in pediatrics

John F. Kennedy was one of the best-known Addison's disease sufferers, and also possibly one of the first to survive major surgery


Endocrine emergencies in pediatrics

Addison’s Disease

Addison’s

Normal


Endocrine emergencies in pediatrics

Primary Adrenal Insufficiency : S/S

  • Fatigue

  • Weight loss

  • Poor appetite

  • Increased pigmentation in non-exposed areas

  • Neuropsychiatric

    • Apathy

    • Confusion

  • Nausea, vomiting

  • Abdominal pain

  • Salt craving


Endocrine emergencies in pediatrics

Primary Adrenal Insufficiency :

Investigations

  • Hyponatremia

  • Hyperkalemia

  • Hypoglycemia

  • Narrow cardiac silhouette on CXR

  • Low voltage EKG


Endocrine emergencies in pediatrics

Primary Adrenal Insufficiency : Etiologies

Congenital

Congenital adrenal hyperplasia

Wolman disease

Adrenal hypoplasia congenita

Allgrove syndrome (AAA)


Endocrine emergencies in pediatrics

Primary Adrenal Insufficiency : Etiologies

Congenital

Congenital adrenal hyperplasia

Wolman disease

Adrenal hypoplasia congenita

Allgrove syndrome (AAA)


Endocrine emergencies in pediatrics

Congenital Adrenal Hyperplasia

StAR, 20,22-desmolase

Cholesterol

17α-hydroxylase

17,20-lyase

17-OH-Pregnenolone

DHEA

3βHSD

3βHSD

3βHSD

Pregnenolone

17α-hydroxylase

17,20-lyase

17-OH-Progesterone

Androstenedione

21-hydroxylase

21-hydroxylase

Progesterone

11-deoxycortisol

Estrone

11β-hydroxylase

11β-hydroxylase

DOC

Testosterone

Cortisol

Corticosterone

18-hydroxylase

Estradiol

18-oxidase

18-OH-Corticosterone

Aldosterone


Endocrine emergencies in pediatrics

Congenital Adrenal Hyperplasia

  • Females are unremarkable other than genitalia

  • Males appear normal

  • GU exam – Clitoromegaly, posterior labial fusion, no vaginal opening


Adrenal insufficiency management

Adrenal Insufficiency: Management


In patients presenting with adrenal crisis

  • If diagnosis not known, treatment should go

    parallel with establishing the Dix.

  • Volume replacement with NS:

    • Usually moderate –severe dehydration

  • Dextrose (0.5g/kg IV) for hypoglycemia

  • Inotropes may be needed for the hypotension (until glucocorticoids given).

In patients presenting with adrenal crisis:


Endocrine emergencies in pediatrics

  • Stress dose steroids should be given :

    • Should not be deferred till diagnosis is established


Endocrine emergencies in pediatrics

Stress Dose Steroids:

  • Loading dose

    • 50-100 mg/M2 hydrocortisone IV

    • Small/medium/large approach (2mg/kg max 100mg)

      • Infants: Hydrocortisone 25 mg

      • Small children: Hydrocortisone 50 mg

      • Larger children/teens: Hydrocortisone 100 mg

  • Continue hydrocortisone with 50-100 mg/M2/day

    • Divide q6-8 hours

    • Established cases:

      • May be 2-3x home dose


Endocrine emergencies in pediatrics

Relative Steroid Potency


Endocrine emergencies in pediatrics

  • Stress dose steroids should be given :

    • Should not be deferred till diagnosis is established

  • Antibiotics for infections

  • Diagnosis to be established.


Endocrine emergencies in pediatrics

Primary Adrenal Insufficiency : Establishing Diagnosis

  • AM plasma cortisol of <3 µg/dL: adrenal

    insufficiency

  • AM cortisol >20 µg/dL: no AI

  • All other patients need dynamic/functional testing:

    • A response >20μg is considered normal

  • In patients with primary adrenal insufficiency,

    plasma ACTH concentrations invariably exceed

    100 pg per milliliter (22 pmol per liter.)


Endocrine emergencies in pediatrics

ACTH Stimulation Test:

  • Low dose (1 mcg) test

    • Baseline and 30 minute cortisol levels

    • More physiological ACTH level/stimulation

    • Useful in central AI

    • Useful for assessing recovery after chronic steroid treatment

  • High dose (250 mcg) test

    • Baseline, 30 and 60 minute levels

    • Can be done IM

    • Stronger stimulation than 1 mcg test


Endocrine emergencies in pediatrics

  • Cortisol Peaks are controversial

  • Excluded if basal or test level is > 525 nmol/L

  • Plasma cortisol levels between 8am-9am

    • Level <83 nmol/L rules IN

    • Level >525 nmol/L rules OUT

    • Levels less than 3 mcg/dL are suggestive of AI

    • Levels greater than 11 mcg/dL exclude AI


Endocrine emergencies in pediatrics

Primary Adrenal Insufficiency : Long Term Management

  • Daily glucocorticoid replacement (hydrocortisone)

    • 10-15 mg/m2/day divided TID

    • Option to change to Dexamethasone in teen years

  • Daily mineralocorticoid replacement

    • Fludrocortisone 0.05-0.2 mg daily

  • Patient education

    • Stress coverage

    • Emergency steroid administration

      • IM hydrocortisone

      • Medic Alert ID +/- diagnosis summary (stress management)


Endocrine emergencies in pediatrics

Primary Adrenal Insufficiency :

Pre-operative Managment

Day 1   Hydrocortisone, 100 mg IV q 8 h, starting with

induction of anesthesia

Day 2   If patient stable and major postoperative stress

resolved, lower dose of hydrocortisone to 50 mg q 8 h

Day 3   Hydrocortisone, 25 mg q 8 h

Day 4   Hydrocortisone, 25 mg bid

Day 5   Maintenance dose (12-15 mg hydrocortisone/m2/d):

15-20 mg A.M. and 5-10 mg P.M.


Endocrine emergencies in pediatrics

Index of Suspicion: Primary Adrenal Insufficiency

  • History of TB

  • Refractory shock

    • Particularly meningococcal disease

  • Dehydration/shock with hyperpigmentation

  • Neonate with vomiting/dehydration/shock

    • with ambiguous genitalia

  • Other autoimmune endocrine disease

  • History consistent with APS1

    • Immunodeficiency/chronic muco-cutaneous candidiasis


Endocrine emergencies in pediatrics

Index of Suspicion: Secondary Adrenal Insufficiency

  • Pituitary trauma/surgery

  • Chronic glucocorticoid therapy

  • Brain tumor

    • Craniopharyngioma

    • Suprasellar germ cell tumor

  • Infiltrative pituitary disease

    • Sarcoidosis

    • Histiocytosis

  • Congenital pituitary abnormalities

    • May have progressive loss of corticotroph function


Endocrine emergencies in pediatrics

Remember!

  • Adrenal Insufficiency can be primary or secondary

  • It can be congenital or acquired

  • Unexplained hyponatremia and hyperkalemia in the setting of:

    • Hypotension unresponsive to fluid administration and catecholamine should receive 100mg hydrocortisone intravenously.

  • Treatment is simple if Dx is suspected.

  • It should not be delayed to confirm the diagnosis.

  • Not all darkening = cyanosis.


Endocrine emergencies in pediatrics

What Is Essential For

A Happy Life?


Endocrine emergencies in pediatrics

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