Endocrine Abstracts

Developments in next-generation sequencing technology have revolutionised the landscape of genetic testing for heterogeneous genetic disorders. There is an emerging need for closer cooperation between endocrinologists and clinical geneticists, including the setting up of multidisciplinary clinics. Examples from a range of endocrine disorders and syndromes diagnosed by targeted single gene testing, multigene panel tests and whole exome/genome sequencing techniques will be prese...

Pseudohypoparathyroidism type 1b (PHPT1b) is a rare disorder due to resistance to parathyroid hormone (PTH) and subsequent hypocalcaemia, hyperphosphataemia and normal or raised PTH levels. Sufferers usually present in childhood with seizures or tetany due to hypocalcaemia. Typically, PHPT1b is associated with defects on the long-arm of chromosome 20 in the form of uniparental (paternal) disomy of 20q or genetic mutations or sporadic epigenetic changes in GNAS gene. G...

The European Academy of Andrology (EAA) recently published consensus guidelines aiming to standardize the care provided to patients with Klinefelter syndrome (KS) across different stages of development. In this retrospective cross-sectional study, we reviewed the clinical care provided to 76 KS patients at Nottingham University Hospitals between 2000 and 2020.Methods: Data regarding age at presentation (n=30 paediatric, adult 46...

A regional multidisciplinary paediatric DSD clinic has been established in our university hospital since 2006, involving specialists from endocrinology and urology. Selected patients were referred to clinical genetics until 2015, when a clinical geneticist and genetic counsellor joined the DSD team. This was prompted by the increasing recognition of the role of genomics in DSD and availability of an increasingly diverse array of genomic tests through NHS labs. The clinic is he...

Advances in DNA sequencing technology have provided insights into the genomic architecture of rare disorders, including DSDs. Genomic testing in clinical setting is now accessible for NHS patients, and we present a series of examples from our regional DSD service of patients and families highlighting the complexity in this field and the role of a clinical geneticist in the diagnostic pathway. A 3.5-year-old girl with clinical diagnosis and family history of CAIS had analysis o...