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 <6.0

FT4 7.2pmol/l 12-22

IGF1 15ng/ml 44-167

IGFBP-3 0.54mg/l 0.575-20.274

Paired osmolality plasma 290mOsm/Kg

Urine 1066mOsm/Kg

Na 140mmol/l 133-146

K 4.6mmol/l 3.5-5.5

urea 3.9mmol/l 2.5-6.0

creatinine 36mmol/l 35-70

GH peak 0.6 mU/L Normal >20

Results

Cortisol ProfileTime Cortisol nmol/L

14:00 <28

18:00 32

20:00 <28

22:00 <28

00:00 38

04:00 106

06:00 64

08:00 46

10:00 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