S.O.D. - The Impact of Late Diagnosis
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S.O.D. - The Impact of Late Diagnosis
Rebecca MayersRGN RSCN
Paediatric Endocrine Nurse SpecialistGreat Ormond Street Hospital NHS Trust
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Charlotte NVD 42 weeks 3.76kg SCBU – neonatal hepatitis & ABO
incompatible Transfer to KCH London Discharged at one month Under KCH until age 5 Squint repair Moorfields – March 2006 No allergies, no medications Immunisations up to date
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Referral Chronological age 9.696years Mainstream school Physically active Local investigations into short
stature• Hypothyroid FT4=7.2 TSH 2.81• Low cortisols (random) 21, 66• Café au lait spots (? Neurofibromatosis
type1)
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Admission Wt 25.6kg (>9th; -0.82) Ht 121cm
(0.4 – 2nd; -2.33 SDS) 24hr cortisol profile Karyotype Thyroid function tests Paired urine/plasma osmolalities MRI brain Glucagon test
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Karyotype 46XX,No NF1 gene mutation
TSH 2.7mU/L <6.0FT4 7.2pmol/l 12-22IGF1 15ng/ml 44-167IGFBP-3 0.54mg/l 0.575-20.274Paired osmolality plasma 290mOsm/Kg
Urine 1066mOsm/KgNa 140mmol/l 133-146K 4.6mmol/l 3.5-5.5urea 3.9mmol/l 2.5-6.0creatinine 36mmol/l 35-70GH peak 0.6 mU/L Normal >20
Results
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Cortisol ProfileTime Cortisol nmol/L14:00 <2818:00 3220:00 <2822:00 <2800:00 3804:00 10606:00 6408:00 4610:00 31
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MRI Ectopic
neurohypophysis with an absent pituitary stalk.
Pituitary gland small. Optic Nerves do not
appear to unite normally in the midline resulting in a wide optic chiasm with a slightly abnormal configuration.
Right optic tract is small
PPOC
AP
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Diagnosis Not NF1 Hypopituitarism MRI findings Therefore diagnosed as Septo-Optic
Dysplasia
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Septo-Optic Dysplasia Congenital Syndrome Hypoplasia of the optic nerve Hypopituitarism Absence of the septum
pellucidum/hypoplasia or absence of corpus callosum
Varying degrees of the condition
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The plan Medications on discharge
Hydrocortisone 5mg/2.5mg/2.5mg Levothyroxine 25mcg Emergency hydrocortisone kit Commenced 0.6mg GH Saizen Easypod
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Steroid card
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Emergency Injection
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Medic Alert
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Ongoing issues Age at diagnosis No preceding illness so acceptance
difficult Life changing Questioning the need for the
treatment
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References Brook C, Hindmarsh P (2001) Clinical
Paediatric Endocrinology, Blackwel Science Ltd.
Dattani M (2001) Septo-Optic Dysplasia: From Mouse to Man, Clinical Pediatric Endocrinology
Kelberman D, Dattani M (2007) Genetics of Septo-Optic Dysplasia, Pituitary