S.O.D. - The Impact of Late Diagnosis Rebecca Mayers RGN RSCN Paediatric Endocrine Nurse Specialist Great Ormond Street Hospital NHS Trust
Feb 24, 2016
S.O.D. - The Impact of Late Diagnosis
Rebecca MayersRGN RSCN
Paediatric Endocrine Nurse SpecialistGreat Ormond Street Hospital NHS Trust
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
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)
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
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
Cortisol ProfileTime Cortisol nmol/L14:00 <2818:00 3220:00 <2822:00 <2800:00 3804:00 10606:00 6408:00 4610:00 31
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
Diagnosis Not NF1 Hypopituitarism MRI findings Therefore diagnosed as Septo-Optic
Dysplasia
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
The plan Medications on discharge
Hydrocortisone 5mg/2.5mg/2.5mg Levothyroxine 25mcg Emergency hydrocortisone kit Commenced 0.6mg GH Saizen Easypod
Steroid card
Emergency Injection
Medic Alert
Ongoing issues Age at diagnosis No preceding illness so acceptance
difficult Life changing Questioning the need for the
treatment
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