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S.O.D. - The Impact of Late Diagnosis Rebecca Mayers RGN RSCN Paediatric Endocrine Nurse Specialist Great Ormond Street Hospital NHS Trust.

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Presentation on theme: "S.O.D. - The Impact of Late Diagnosis Rebecca Mayers RGN RSCN Paediatric Endocrine Nurse Specialist Great Ormond Street Hospital NHS Trust."— Presentation transcript:

1 S.O.D. - The Impact of Late Diagnosis Rebecca Mayers RGN RSCN Paediatric Endocrine Nurse Specialist Great Ormond Street Hospital NHS Trust

2 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

3 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)

4 Admission Wt 25.6kg (>9 th ; -0.82) Ht 121cm (0.4 – 2 nd ; -2.33 SDS) 24hr cortisol profile Karyotype Thyroid function tests Paired urine/plasma osmolalities MRI brain Glucagon test

5 Karyotype46XX,No NF1 gene mutation TSH2.7mU/L<6.0 FT47.2pmol/l12-22 IGF115ng/ml44-167 IGFBP-30.54mg/l0.575-20.274 Paired osmolalityplasma290mOsm/Kg Urine1066mOsm/Kg Na140mmol/l133-146 K4.6mmol/l3.5-5.5 urea3.9mmol/l2.5-6.0 creatinine36mmol/l35-70 GH peak0.6 mU/LNormal >20 Results

6 Cortisol Profile TimeCortisol nmol/L 14:00<28 18:0032 20:00<28 22:00<28 00:0038 04:00106 06:0064 08:0046 10:0031

7 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 PP OC AP

8 Diagnosis Not NF1 Hypopituitarism MRI findings Therefore diagnosed as Septo-Optic Dysplasia

9 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

10 The plan Medications on discharge Hydrocortisone 5mg/2.5mg/2.5mg Levothyroxine 25mcg Emergency hydrocortisone kit Commenced 0.6mg GH Saizen Easypod

11 Steroid card

12 Emergency Injection

13 Medic Alert

14 Ongoing issues Age at diagnosis No preceding illness so acceptance difficult Life changing Questioning the need for the treatment

15 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


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