CONGENITAL HYPOTHYROIDISM

Congenital Hypothyroidism

CONGENITAL HYPOTHYROIDISM

This guidance does not override the individual responsibility of health professionals to make appropriate decision according to the circumstances of the individual patient in consultation with the patient and /or carer. Health care professionals must be prepared to

justify any deviation from this guidance.

Introduction

Screening for congenital hypothyroidism has been available for more than 30 years. This was first introduced in the UK in 1981. Screening test is performed on the newborn blood spot sample for elevated thyroid stimulating hormone (TSH).In the West Midlands, babies should be tested on day 6 using heel prick blood. The screening is undertaken at the West Midlands Screening Centre at Birmingham Children’s Hospital.

This guideline is for use by the following staff groups :

Lead Clinician(s)

Dr Rachel Yew

Consultant Paediatrician ST3 Paediatrics

Guideline approved by Paediatric Clinical Governance meeting on:

Extension approved on:

28th February 2014 22ns July 2015 This guideline should not be used after end of: 28th February 2017

Key amendments to this guideline

Date Amendment By:

08.02.2012 Guideline approved by Medicines safety group

17.02.2012 Guideline approved Paediatric Clinical

Governance Committee 12 July 2013 Reference added-Congenital Hypothyroidism ,Initial

Clinical Referral, Standards and Guidelines,January 2013

Naeem Ahmad

January 2014 Guideline reviewed with some amendments made to content.

Naeem Ahmad March 2016 Document extended for 12 months as per TMC paper

approved on 22nd July 2015

Congenital Hypothyroidism

CONGENITAL HYPOTHYROIDISM

Introduction

Screening for congenital hypothyroidism has been available for more than 30 years. This was first introduced in the UK in 1981. Screening test is performed on the newborn blood spot sample for elevated thyroid stimulating hormone (TSH). In the West Midlands, babies should be tested at 5-8 days old using heel prick blood. The screening is undertaken at the West Midlands Screening Centre at Birmingham Children’s Hospital.

Details of Guideline

Management of infants with positive screening results

Clinical aim:

- To commence treatment as soon as possible after a positive screening result for congenital hypothyroidism – improve neuro-developmental outcome.

- To ensure these infants receive the appropriate investigations, management and follow-up required.

Screening programme will not detect secondary or tertiary hypothyroidism as it uses primary TSH method, and infants may only present with other signs of congenital hypothyroidism such as prolonged jaundice. Similarly, infants with a delayed TSH rise, thyroid binding globulin deficiency and hyperthyroxinaemia will not be detected by the screening programme.

Contacts

 Mr. Paul Griffiths, Consultant Biochemist Director, Newborn Screening Laboratory. 0121 333 9923

 Ms Kate Hall, Principal Biochemist, Newborn screening Laboratory. 0121 333 9903

 Screening Duty Biochemist. 0121 333 9900

 Dr Naeem Ahmad, Consultant Paediatrician, Alexandra Hospital, Redditch Office 01527 503030 x 44938 Secretary: 01527 503030 x 44121

 Dr John Scanlon, Consultant Paediatrician, Worcestershire Royal Hospital Secretary: 01905 760647 or Ext 39434

Congenital Hypothyroidism

Management of Congenital Hypothyroidism - Flow Chart

Screening lab notifies *designated consultant/on-call consultant *Dr Naeem Ahmad/Dr John Scanlon

Family contacted and baby must be seen on

the same or the following day.

*There is no need for the baby to be admitted*

History: Affected sibling, family history of thyroid illness/problems, thyroid disease or anti-thyroid therapy in mother, symptoms (poor feeding, sleepiness, jaundice, constipation, cold peripheries, hoarse cry).

Examination: Weight, height, head circumference. Signs of hypothyroidism (coarse facies, umbilical hernia), hoarse cry. Careful cardiac examination, assessment of hip stability, presence/absence of goitre.

Investigations

- 1ml venous blood for FT4 and TSH (inform lab – urgent), results within 1h - 3ml of blood from mother for FT4, TSH and thyroid antibodies

- Radioisotope thyroid scan - before or within 5 days of starting thyroxine. Contact nuclear medicine on Fax: 01213339721 or BCH Tel.Ext:0121 333 9749

Treatment

To be started after confirmatory blood tests above have been taken. Starting dose is

10-15 micrograms/kg/day of Levothyroxine (once daily in the morning). (Maximum 50 micrograms once daily in the morning)

Provide information leaflet to parents. (Appendix 2)

Complete and return the positive screen proforma to the Duty Biochemist at the Newborn Screening Laboratory. (Appendix 1)

Follow-up:

- 2, 4 & 8 weeks

- 3,6,9 and 12 months

- 1 – 3 years (6 monthly)

- Yearly from then onwards

* Monitor FT4, TSH, growth and development.

Congenital Hypothyroidism

Treatment of congenital hypothyroidism

 To be started after confirmatory blood tests above have been taken. Starting dose is

10-15 micrograms/kg/day of Levothyroxine once daily in the morning (Maximum 50 micrograms once daily)

 Tablets should be crushed between 2 spoons and given to the baby with a little milk or water using a teaspoon.Parents should be explained how to crush the tablets between two spoons. Do not add to a bottle. Do not use a syringe.

 Tablets come as multiples of 25 micrograms. Intermediate doses may be achieved by giving, for example, 2 tablets alternate days, 1 tablet alternate days.

Do not use suspensions due to variable bioavailability.

 Aim to keep the FT4 towards the upper limit of normal range

 TSH takes weeks to normalized but FT4 settles quickly. If FT4 is satisfactory but TSH is significantly raised consider non-compliance.

Parent Information

There are parent information leaflets which are usually sent with the notification of an abnormal result.

There is also information for parents at:

www.ich.ucl.ac.uk/factsheets/families/F040274/congenital_hypothyroidism

British Thyroid Foundation. PO Box 97, Clifford, Wetherby, West Yorkshire. LS23 6XD Child Growth Foundation. 2 Mayfield Avenue, Chiswick, London. W4 1PW

Congenital Hypothyroidism

Monitoring Tool

How will monitoring be carried out? Clinical Audit

Who will monitor compliance with the guideline? Paediatric Clinical Governance Committee

STANDARDS % CLINICAL EXCEPTIONS

L Thyroxine started between 10-15 days of life 100% None Radioisotope thyroid scan - before or within 5 days

of starting thyroxine 100% None

Follow up according to the guideline 100% None

References

1. Congenital Hypothyroidism ,Initial Clinical Referral, Standards and Guidelines ,January 2013

2. Mann N P, Congenital hypothyroidism-what’s new? Paediatrics And Child Health 2011; 21:7:295-299

3. Guidelines for follow-up of babies with positive newborn screening blood test for congenital hypothyroidism - Birmingham Children’s Hospital NHS Trust – Paediatric Laboratory Medicine Clinical Chemistry Department. P Griffiths. Sept 2010.

4. Guideline for the management of congenital hypothyroidism in Scotland – Greater Glasgow

and Clyde NHS Trust – Department of Child Health, Department of Paediatrics, Department of Biochemical Genetics, National Newborn Screening Laboratory. Donaldson, Jones, Brown. Oct 2010.

5. Staffordshire, Shropshire and Black Country Newborn Network Guidelines. Hypothyroidism. 2007

Congenital Hypothyroidism

Appendix 1

PROFORMA – POSITIVE SCREEN FOR CONGENITAL HYPOTHYROIDISM

Please fill in or correct the information requested below and fax the completed form to 0121 333 9913 as soon as possible following the clinic appointment.

Baby’s Name: D.O.B. Gender :

Hospital No: NHS No:

Address:

Specimen Date Date received Age of baby Screening Results Mean TSH: mIU/L Mean TSH: mIU/L Birthweight: (kg) Gestation Ethnicity:

Date of referral: Referred to:

Date of clinic: Hospital: Seen by:

Plasma Thyroid Results Date: TSH mIU/L Free T4 pmol/L Anti-thyroid Ab

Was the baby treated? Y/N

Date treatment started: Starting dose:

Did the baby have a thyroid scan? Y/N Scan result:

Iodine exposure to baby Y/N Consanguinity Y/N Details… Family history of thyroid disease? Y/N Details…

Jaundiced? Y/N Feeding problems? Y/N Sleepy? Y/N Constipation? Y/N Umbilical Hernia? Y/N Goitre? Y/N Additional information/clinical details

Congenital Hypothyroidism

Appendix 2

Parent Information Leaflet

CONGENITAL HYPOTHYROIDISM (bsped.org.uk)

As you know a small blood sample for chemical testing was taken from your baby (usually by a heel prick with the blood spotted onto a card) between the sixth to tenth days of life. The tests on that sample have shown that your child may have congenital hypothyroidism. This is a condition in which there is underactivity of the thyroid gland (hypothyroidism) present at the time birth (congenital).

The thyroid gland lies in the front of the neck across the upper part of the trachea (windpipe). Its main function is to produce and transfer into the blood a chemical (hormone) called thyroxine. After birth (but fortunately only to a much lesser extent before birth) this hormone has an important role in regulating the growth and development and the chemical activity of nearly all the cells in the body, including the brain. Lack of thyroxine causes slowing of these processes. It is essential at all times of life but particularly in the growing child.

What causes congenital hypothyroidism?

For reasons which are understood in only a few cases, in about 1 child in 3,500 the thyroid gland either fails to develop properly before birth or fails to work adequately. This is seldom apparent from the baby's physique or behaviour until some weeks after birth but it is extremely important to identify the problem early because if it remains undetected and untreated there is slowing of the development of all organ systems including the brain. If thyroxine is not given within the first few weeks after birth brain damage can occur. For this reason all babies are now tested for this condition. If the screening test shows any indication of underactivity thyroid function must be more accurately checked on a liquid blood sample. If this confirms underactivity treatment with thyroxine is started immediately. As long as the thyroxine is started within a few weeks of birth growth and development is normal.

Treatment

Thyroxine is made chemically and is available as small white tablets (it is not possible to make a reliable liquid preparation) in 25, 50 and 100 microgramme (mcg) sizes. Most babies are started on a dose of 25-50 mcg a day. (A dose equivalent to 37.5mg a day can be given by giving 25 and 50 mcg on alternate days). The tablets are easily crushed and given with some milk off a spoon. On treatment further blood samples are needed to allow adjustment of the dose to produce a normal level of thyroxine and the thyroid controlling hormone (TSH) in the blood. Frequent blood tests are needed at first but these can be less frequent as the child grows older. The dose of thyroxine needs to be increased as the child grows but most adults need only 150-200mcg per day. Do not be misled by the small size and unimpressive nature of the thyroxine tablets, this hormone is absolutely essential for the normal growth and development of your child. Establish a foolproof routine for giving the tablet daily. An occasional missed tablet is inevitable and does not matter because thyroxine is slowly used in the body, it is not necessary to give an extra one when the omission is realised.

Rarely congenital hypothyroidism may prove to be transient and the function of the gland may recover. If there is any doubt that lifelong thyroxine treatment is needed a further check on the function of the gland can be made. This requires stopping treatment briefly and is best done when the child is a little older, usually after the age of two or three years. No harm at all will have resulted from giving thyroxine up till then because the natural secretion from the gland is adjusted to maintain a normal level.

Congenital Hypothyroidism

Outlook

On treatment the child with congenital hypothyroidism is entirely normal. This is not a medication, it is simply an exact replacement of a missing chemical. There is therefore no need to worry whether the child can have normal immunisations, treatment needed for other conditions and so on, nothing is barred. There is naturally a tendency to worry that quirks of physique or behaviour may relate to the congenital hypothyroidism or its treatment but be assured that as long as the thyroxine dose is appropriate, they do not.

Congenital Hypothyroidism

CONTRIBUTION LIST

Key individuals involved in developing the document

Name Designation

Dr N Ahmad Consultant Paediatrician

Circulated to the following individuals for comments

Name Designation

Dr M Ahmed Consultant Paediatrician

Dr T Bindal Consultant Paediatrician

Dr D Castling Consultant Paediatrician Dr T C Dawson Consultant Paediatrician Dr T El-Azzabi Consultant Paediatrician Dr A Gallagher Consultant Paediatrician

Dr M Hanlon Consultant Paediatrician

Dr L Harry Consultant Paediatrician

Dr B Kamalarajan Consultant Paediatrician Dr K Nathavitharana Consultant Paediatrician

Dr C Onyon Consultant Paediatrician

Dr J E Scanlon Consultant Paediatrician

Dr A Short Clinical Director/Consultant Paediatrician Dr V Weckemann Consultant Paediatrician

Dr F Childs Consultant Paediatrician - Community Dr J Crane Consultant Paediatrician - Community Dr D Lewis Consultant Paediatrician - Community Dr A Mills Consultant Paediatrician - Community

A Borg Directorate Manager

D Picken Matron, Paediatrics

N Pegg Ward Manager, Riverbank

L Greenway Ward Manager, Ward 1

S Courts Orchard Services Manager

M Chippendale Advanced Nurse Practitioner

Congenital Hypothyroidism

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Congenital Hypothyroidism

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