Genetic causes of very late puberty | Dr Sasha Howard

Very early or very late puberty affects around 1 in 20 children and the timing of puberty is mostly determined by genes - but we don't know which genes, or why. In this short expert lecture, Dr Howard outlines her research discovering a new gene connected to very delayed puberty.

Very early or very late puberty is known to be connected with with a range of adverse effects. Very early onset puberty, before the age of about 9 years old is connected with diseases such as obesity and type 2 diabetes, while very late onset puberty, after the age of about 14 years old, is associated with issues such as low self-esteem and adult height.

Around 60-80% of the variability of timing of puberty is genetically determined, but we know very little about which genes are causing these effects.

Dr Howard's research has focused on analysing the DNA sequences of over 400 teenagers with delayed onset puberty. She undertook whole exome sequencing to identify genes which might be associated with self-limited delayed puberty.

Through her work, Dr Howard identified a key gene: immunoglobulin superfamily member 10, or IGSF10. This gene encodes a very large protein of unknown function hypothesised to impact on the timing of gonadotropin releasing hormone (GnRH) from the hypothalamus. Dr Howard showed that mutations in IGSF10 mutations significantly delayed the time when children started puberty.

Dr Sasha Howard is a final year Wellcome Trust Research Training Fellow in Paediatric Endocrinology at Barts and the London School of Medicine and Dentistry, Queen Mary University of London.

This clip was filmed as part of the Academy of Medical Sciences Spring Meeting, 2016. To read more about the Spring Meeting, visit https://acmedsci.ac.uk/grants-and-sch...

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