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Evaluation of theChild with Suspected Pituitary Disease
Craig Alter, MD University of Pennsylvania
Children’s Hospital of Philadelphia
What we will cover…
*What laboratory tests to order
*MRI: common pituitary findings
* Diabetes Insipidus
* Craniopharyngioma
* Prolactinoma
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Pituitary Hormones• LH, FSH
• TSH
• GH
• Prolactin
• ACTH
• ADH (Vasopressin)
• Oxytocin
Pituitary Labs
• LH, FSH: ultrasensitive or pediatric assay
testosterone, estradiol
• TSH: free-T4, TSH, not TSH alone
• GH: IGF-1, IGFBP3
• Prolactin may need serial dilutions
• ACTH 730-8am fasting cortisol
• ADH (Vasopressin):
fasting Ur Osm, Osm, Chem panel
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IGF-1
• 37 ng/ml (very low!)
MRI Findings:
* Mass in the pituitary
* Absent posterior pit bright spot
* Considerations:craniopharyngioma, Rathke’s cleft cyst, adenoma
Pituitary Diagnoses• Craniopharyngioma
• Rathke’s Cleft cyst
• Pars intermedia cyst
• Hamartoma
• Gem Cell tumors (germinoma)
• Histiocytosis
• Adenoma, Prolactinoma
• Optic nerve hypoplasia
• Ectopic Posterior Pituitary
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Pituitary Diagnoses• Craniopharyngioma: calcifications, CT can
help, benign, cysts can recur after surgery
• Rathke’s Cleft cyst
• Pars intermedia cyst: small, < 3 mm, benign
• Hamartoma: associated with precocity
• Gem Cell tumors (germinoma) - DI
• Histiocytosis (DI)
• Adenoma, Prolactinoma
• Optic nerve hypoplasia
Next patient• Growing poorly
• Delayed puberty
• Perhaps adrenal insufficiency symptoms
• Drinks a great deal, nocturia
• Breast discharge
• Fatigue
• Visual complaints, headaches
• Just get the MRI already!!
CaseDavid Ingelfinger
*14 6/12 male polydipsia/uria
*6 months increased thirst
*Up 9 times/night
*Urine: 8 liters/day
*Failed trial restriction
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Review of Systems DI
*Rare absentee from school
*Weight loss 117-->106 lbs
*Less appetite
*No headaches/visual complaints
Physical Examination DI
*Energetic,well appearing
*Growth normal
*Tanner 4, 12 ml testes
*Visual fields normal
Laboratory Workup
LabQuest
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Laboratory Workup DI
Sodium 142-146
T4 6.6 ug/dL TSH 4.4
IGF-1 403 ng/ml IGFBP3 4.6
Cortisol 19.5 ug/dL
Prolactin 36 ng/ml
Glucose 86 mg/dl
Water Deprivation
*12 hours:
*Sodium 150
*Serum Osm 308
*Urine Osm <225
*Urine Osm 513 (+vasopressin)
Gadolinium Contrast,to be or not to be?
Hypothalamus
Pit. Stalk
Pituitary
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Gadolinium Contrast,to be or not to be?
Gadolinium Contrast,to be !
MRI with Normal Pituitary
Infundibular stalk
Pituitary
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Normal Bright Spot
MRI with Thickened Pituitary Stalk
Thickened infundibular stalk
Pituitary
Initial MRI of DI patient
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MRI Results
*Loss of bright spot
*Fullness of Infundibular stalk
What next?
A) Follow-up...when?
B) MRI: repeat it?
C) Refer for biopsy?
D) Obtain a bone age?
DI in Childrenetiology (n=79)
* Idiopathic 52%
* Intracranial tumor 23%Germinoma 1/3Cranio 1/3Post-surg 1/3
* Histiocytosis 15%
* Familial 6%
* Post-trauma 3%
* Autoimmune 1%
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Diagnosis of DI Based on Ageat Presentation
Diagnosis of DI Based on Ageat Presentation
CNS Germinoma
* 7.8% of brain tumors in children
* 1/3
* 2.5 years
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CNS Germinoma
* 7.8% of brain tumors in children
* 1/3 present with diabetes insipidus
* 2.5 years - median time until Dx(after DI)
Normal Bright Spot on T1
MRI in DI:Loss of hyperintensity?
*Sensitivity: 94%(rest disappears in time)
*Specificity: 90% except under 2 mo old
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Normal Pituitary Stalk
*Normal Stalk 46%*Children with normal stalk:
Idiopathic 52%Histiocytosis 19%Familial 14%CNS malform 11%Germinoma 3%
Pituitary Stalk Thickening
*Stalk thickened 37%
*Children with thick stalk:Leger Maghnie
n=26 n=29
Idiopathic 65% 62%Histiocytosis 19% 17%Germinoma 15% 17%
Anterior Pituitary Disease?
*Some deficit 61%
*Of those w/ deficiency:GH deficiency 59%Hypothyroidism 18%Hypogonadism 24%Adrenal insuffic. 22%
*Prolactin > 20 30%
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SummaryDiagnosis of Germinoma
*Loss of bright spot --> not risk
*Stalk thickening --> 17% risk
*No thickening --> 3% risk
*Progress thickening --> risk
*Ant Pit Disease --> not risk
*CSF Positive for hCG --> risk
Diagnosis of GerminomaWhat is the median time
until Diagnosis?
*2.5 years
*1 year in the NEJM Study
==> frequent MRI indicated
ConclusionDI in Children
*1/3 germinoma present w/ DI
*Data show under 5 yr low risk
*MRI findings in DIloss of bright spotpituitary stalk thickening
*PST increases risk of tumorMRI needs f/u q3-6 mo.
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Tanner 4
MRI with Ectopic Posterior Pituitary
Ectopic Posterior Pituitary (EPP)
*DI not common
*Risk of Multiple Pituitary Hormone Disease (MPHD)
*Risk of Adult GHD
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Precocious Puberty
*Normal
*Hamartoma (neural cells, wrong location)
*Mass outside of the sella
Harmartoma
Understanding the MRI• Bright spot present? (absent in Central DI)
• Ectopic posterior pituitary
(GHD, panhypopit, no DI)
• Stalk thickened? (infiltrative disorders)
• Optic nerve compression?
• Cysts or tumors?
• Calcifications
• Pineal region (germinoma)
• Optic nerve hypoplasia, corpus callosum
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