What we will cover. Evaluation of the Child with Suspected Pituitary Disease. ituitary
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1 Evaluation of the Child 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 ituitary 1
2 Pituitary Hormones Pituitary Hormones LH, FSH TSH GH Prolactin ACTH ADH (Vasopressin) Oxytocin 2
3 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 3
4 IGF-1 pending 4
5 37 ng/ml (very low!) IGF-1 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 5
6 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 Growing poorly Next patient Delayed puberty Perhaps adrenal insufficiency symptoms Drinks a great deal, nocturia Breast discharge Fatigue Visual complaints, headaches Just get the MRI already!! 6
7 7
8 Case David Ingelfinger *14 6/12 male polydipsia/uria *6 months increased thirst *Up 9 times/night * Urine: 8 liters/day *Failed trial restriction Review of Systems DI *Rare absentee from school *Weight loss 117-->106 lbs *Less appetite *No headaches/visual complaints 8
9 Physical Examination DI *Energetic,well appearing *Growth normal *Tanner 4, 12 ml testes *Visual fields normal Laboratory Workup LabQuest Laboratory Workup DI Sodium T4 6.6 ug/dl TSH 4.4 IGF ng/ml IGFBP3 4.6 Cortisol 19.5 ug/dl Prolactin 36 ng/ml Glucose 86 mg/dl 9
10 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 Gadolinium Contrast, to be or not to be? 10
11 Gadolinium Contrast, to be! MRI with Normal Pituitary Infundibular stalk Pituitary Normal Bright Spot 11
12 MRI with Thickened Pituitary Stalk Thickened infundibular stalk Pituitary Initial MRI of DI patient MRI Results *Loss of bright spot *Fullness of Infundibular stalk 12
13 What next? A) Follow-up...when? B) MRI: repeat it? C) Refer for biopsy? D) Obtain a bone age? DI in Children etiology (n=79) * Idiopathic 52% * Intracranial tumor 23% Germinoma 1/3 Cranio 1/3 Post-surg 1/3 * Histiocytosis 15% * Familial 6% * Post-trauma 3% * Autoimmune 1% Diagnosis of DI Based on Age at Presentation 13
14 Diagnosis of DI Based on Age at Presentation CNS Germinoma *7.8% of brain tumors in children *1/3 *2.5 years CNS Germinoma *7.8% of brain tumors in children *1/3 present with diabetes insipidus *2.5 years - median time until Dx (after DI) 14
15 Normal Bright Spot on T1 MRI in DI: Loss of hyperintensity? *Sensitivity: 94% (rest disappears in time) *Specificity: 90% except under 2 mo old Normal Pituitary Stalk *Normal Stalk 46% *Children with normal stalk: Idiopathic 52% Histiocytosis 19% Familial 14% CNS malform 11% Germinoma 3% 15
16 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% Summary Diagnosis 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 16
17 Diagnosis of Germinoma What is the median time until Diagnosis? *2.5 years *1 year in the NEJM Study ==> frequent MRI indicated Conclusion DI in Children *1/3 germinoma present w/ DI *Data show under 5 yr low risk *MRI findings in DI loss of bright spot pituitary stalk thickening *PST increases risk of tumor MRI needs f/u q3-6 mo. Tanner 4 17
18 GPA 4 MRI with Ectopic Posterior Pituitary Ectopic Posterior Pituitary (EPP) *DI not common *Risk of Multiple Pituitary Hormone Disease (MPHD) *Risk of Adult GHD 18
19 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 19
20 20
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