Presentation: Child with multiple pituitary deficiency
The first sign of multiple pituitary deficiency is typically slow growth and short stature in infancy, with other features depending on the pituitary hormones affected. It may occur due to acquired causes such as tumour, trauma, surgery or irradiation, or it may have an underlying genetic cause.
Example clinical scenario
A three-year-old girl is referred to the paediatric clinic by her GP because of short stature. She is tracking below the 0.4th centile, with no cause yet identified. There are no developmental concerns, and there is no family history of short stature. Biochemical tests have revealed growth hormone deficiency and thyroid stimulating hormone deficiency.
When to consider genomic testing
Genomic testing for combined pituitary hormone deficiency should be considered if endocrine investigations for short stature reveal deficiency in at least two pituitary hormones of neonatal or childhood onset, and no acquired cause is identified.
What do you need to do?
- Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria, which provides information about individual tests and their associated eligibility criteria. You can also access a spreadsheet containing details of all available tests.
- For those working within NHS Wales, please consult the All Wales Medical Genomics Service website for information on how to arrange testing.
- To find out which genes are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
- Decide which of the panels best suits the needs of your patient or family. For investigation of multiple pituitary deficiency, the appropriate test is:
- R159 Pituitary hormone deficiency: This is a whole exome sequencing or gene panel test, analysing a small number of genes associated with pituitary hormone deficiency.
- As this test does not include whole genome sequencing (WGS):
- you can use your local Genomic Laboratory Hub test order and consent (record of discussion) forms; and
- parental samples may be needed for interpretation of the child’s result. Parental samples can be taken alongside that of the proband, and their DNA stored, or can be requested at a later date if needed.
- As this test does not include whole genome sequencing (WGS):
- The majority of tests are DNA-based, and an EDTA sample (purple-topped tube) is required. Exceptions include karyotype testing and DNA repair defect testing (for chromosome breakage), which require lithium heparin (green-topped tube).
- R159 Pituitary hormone deficiency: This is a whole exome sequencing or gene panel test, analysing a small number of genes associated with pituitary hormone deficiency.
- Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.
Resources
For clinicians
- Genomics England: NHS Genomic Medicine Service (GMS) Signed Off Panels Resource
- Medline Plus: Combined pituitary hormone deficiency
- NHS England: National Genomic Test Directory
References:
- Castinetti F, Reynaud R, Quentien MH and others. ‘Combined pituitary hormone deficiency: Current and future status’. Journal of Endocrinological Investigation 2014: volume 38, pages 1–12 . DOI: 10.1007/s40618-014-0141-2
For patients
- British Society for Paediatric Endocrinology and Diabetes: Hypopituitarism (multiple pituitary hormone deficiency) (PDF, three pages)
- Child Growth Foundation
- The Pituitary Foundation