RNA-DSD Study, Version 1.0
Research type
Research Study
Full title
Assessment Of Androgen Sufficiency In Boys With Disorders of Sex Development (DSD)
IRAS ID
240032
Contact name
Malika Alimussina
Contact email
Sponsor organisation
NHS Greater Glasgow and Clyde
Duration of Study in the UK
2 years, 1 months, 11 days
Research summary
Disorders of sex development (DSD) are a group of rare congenital conditions characterized by the presence of atypical genitalia. In boys, understanding the underlying cause requires an assessment of the function of the testes, which is usually performed after 3 months of age. This test is known as the human chorionic gonadotrophin (hCG) stimulation test. It involves a series of injections of hCG which stimulate the testes to produce testosterone and its precursors. This test is used on a routine basis in boys with suspected DSD. Although the test can give an insight whether testes are able to produce testosterone, it cannot determine the sensitivity of tissues (e.g. penis) to this hormone. There is emerging evidence that the usefulness of the test can be extended by molecular genetic methods in parallel to androgen measurements. Identifying small ribonucleic acids (RNAs) that are androgen sensitive in peripheral blood before and after hCG stimulation may be useful in assessment of androgen sensitivity. Preliminary studies in our group have shown that the level of these RNAs increases in response to testosterone synthesis. The project will aim to study this possible association in more detail by collecting samples on all boys undergoing the hCG test. All boys with a suspected DSD, who are undergoing the hCG stimulation test will be eligible for the study. The additional blood sample will be collected when these boys would be due to attend hospital to have routine bloods collected on day 1, 4 and, occasionally, 22 of the test. This will therefore not involve any additional venipuncture. This study will not require the participation of any healthy controls because comparative analysis of test results will be performed between responders and non-responders to the hCG stimulation. This study will be a part of PhD project over a period of 26 months during which approximately 30 participants will be recruited.
REC name
London - Bromley Research Ethics Committee
REC reference
18/LO/1431
Date of REC Opinion
21 Aug 2018
REC opinion
Favourable Opinion