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S.O.D. - The Impact of Late Diagnosis

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Presentation on theme: "S.O.D. - The Impact of Late Diagnosis"— 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 Born in Essex at 42 weeks (NVD) and weighing 3.76kg she was admitted to SCBU with jaundice and unspecified neonatal hepatitis and ABO incompatible. All babies with neonatal hepatitis should have their cortisol function tested. Transferred to Kings College Hospital where she had a blood transfusion, liver biopsy, steroids and phototherapy. She initially had failure to thrive but was discharged home at one month. She remained under KCH until age 5 years Recently under Moorfield’s Eye Hospital for squint repair and was noted to take a long time to recover from the general anaesthetic.

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) A 9 ½ year old girl was referred to Professor Mehul Dattani from her local hospital after investigations into short stature where she was found to be hypothyroid (T4 = 7.2 TSH 2.81) and had low random cortisol levels (21, 66). She also had three café au lait spots. No treatment had been commenced. She attended mainstream school but was reported to be slightly behind in English and Maths. She swam regularly and was a keen dancer – disco and ballroom.

4 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 She was initially admitted to the unit for karyotype, synacthen test, TFTs, 24 hour cortisol profile, IGF1BP3, paired osmolality, electrolytes and an MRI of her brain.

5 Results 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 Paired osmolality plasma 290mOsm/Kg Urine 1066mOsm/Kg Na 140mmol/l K 4.6mmol/l urea 3.9mmol/l creatinine 36mmol/l 35-70 GH peak 0.6 mU/L Normal >20

6 Cortisol Profile Time Cortisol nmol/L 14:00 <28 18:00 32 20:00
22:00 00:00 38 04:00 106 06:00 64 08:00 46 10:00 31

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 PP – Posterior pituitary AP – Anterior pituitary OC – Optic Chiasm

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 Rarely a mutation of HESX1 gene, only one found at the moment Often diagnosed in infancy following a collapse from underlying illness or hypoglycaemia Facts and figures – 1 in 10,000 (figures come from the Manchester endocrinologists) Extremes – Can have no visual problems or be totally blind Problems - Can have Diabetes Insipidus as well as being hypothyroid, cortisol deficient, GHD and need help with puberty. Long term they can have obesity, sleep disturbance and autistic tendencies.

10 The plan Medications on discharge Hydrocortisone 5mg/2.5mg/2.5mg
Levothyroxine 25mcg Emergency hydrocortisone kit Commenced 0.6mg GH Saizen Easypod Professor Dattani diagnosed Septo-Optic Dysplasia and a meeting took place to discuss this with the family and Endocrine Clinical Nurse Specialist. She was discharged home on hydrocortisone 5mg/2.5mg/2.5mg. Told to commence levothyroxine (25mcg) 48 hours after hydrocortisone. CNS discussed emergency management and liaised with school. She returned a couple for weeks later for a glucagon test and was found to be growth hormone deficient.

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 Impact of late diagnosis: The family require ongoing support and a high level of input as they have found it hard to come to terms with the diagnosis. They are questioning the need for hydrocortisone and have had to had the diagnosis covered several times. Because Charlotte had been well, the impact was greater. Acceptance stages (Kubler-Ross)

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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