DSD, Adrenal and Puberty

There are a large number of clinical studies going on in the field of CAH and DSD through the I-DSD/CAH Registry which UK centres are taking part in and can take part in. The Registry is on the Portfolio. 18 centres in the UK are entering cases, and among these 11 are children’s centres.

The list of active studies can be found on https://www.gla.ac.uk/schools/medicine/research/childhealth/researchinterests/i-dsdproject/research/researchstudies


Genetic Factors Affecting the Timing of Puberty (CPMS ID 30730)


Dr Sasha Howard, s.howard@qmul.ac.uk


Background: Disordered pubertal timing (early, delayed or arrested) occurs in approximately 5% of the population; however, the biological mechanisms and genetic changes that underpin these conditions remain unclear. Both early and late pubertal timing are associated with adverse health outcomes including increased risk of cardiovascular disease, metabolic syndrome, breast and endometrial cancer, short stature, reduced bone mineral density and compromised psychosocial health.

Aims: To investigate novel genetic determinants of pubertal timing, using next generation sequencing of patients and their family members with significantly early, late or absent onset of puberty. Utilising established bioinformatics tools and laboratory techniques we aim to pinpoint key genetic changes that lead to significant changes in the timing of pubertal onset.

Impact: This research will provide insights into the genetic architecture and biological pathways underlying the pathogenesis of significant pubertal delay, precocious puberty and disordered pubertal timing. This will translate to improved diagnosis, treatment and long-term management of patients with these conditions.

Recruitment is ongoing and continuous. Clinicians are requested to contact via email (s.howard@qmul.ac.uk) to discuss recruitment of patients with familial precocious, delayed or absent puberty.

Start Date: 06/05/2016
End Date: 20/09/2025

Further InformationUpdated Oct 2021


Establishing a national register of young women with Turner syndrome


Professor David Dunger, dbd25@cam.ac.uk


Register of women over the age of 16 years with Turner syndrome as they leave paediatric care. Young women can be referred to the register by their consultant or by self-referral. These young women are followed up with an annual questionnaire to obtain simple information as to the nature of the medical follow-up they are receiving. They may be invited to participate in new clinical trials.

Start Date: 02/12/2004
End Date: --/--/----

Further Information: