Delayed or absent puberty with low or suppressed gonadotropins (including primary amenorrhoea, oligo/azoospermia with low testosterone. Bilateral cryptorchidism with micophallus is suggestive of congenital IHH) AND at least one of the following,
- Parental consanguinity, OR
- One or more similarly affected first, second or third degree relative
- OR Syndromic features such as anosmia, cleft lip or palate, deafness, renal agenesis, neurological disorders.
Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.
In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.
- Acquired structural hypothalamo-pituitary disease
- History of anabolic steroid use, recent history of glucocorticoid or opiate use
- Severe intercurrent illness, anorexia, or other forms of undernourishment
- Evidence of primary hypogonadism
- Co-existent pituitary hormone deficiency Features of Bardet Biedl, CHARGE syndromes, or other complex syndromes for which UKGTN testing exists
Prior genetic testing guidance:
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Prior genetic testing genes:
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: No genes specified
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List