Endocrine Abstracts

Introduction: Achieving glycaemic targets for young children with type 1 diabetes (T1D) is challenging due to rapidly changing physiology and behavioural patterns. An under-fives specialised multidisciplinary clinic (U5-MDT) was implemented in January 2022 due to poorer glycaemic control in this group compared to the rest of the clinic cohort. The U5-MDT aimed to optimise glycaemic control through access to technology while providing family support.<p clas...

Introduction: Testosterone(T) is converted to dihydrotestosterone(DHT), the most potent androgen, by the enzyme 5alpha-reductase type 2(SRD5A2). During foetal development, the masculinisation of male external genitalia crucially depends on DHT. Pathogenic variants in SRD5A2 cause 46,XY differences in sex differentiation(DSD). Early and accurate diagnosis is paramount to facilitate gender assignment since most reared as females may profoundly virilize at pubert...

Background: The current screening test for adrenal insufficiency (AI) involves patients attending hospital for an “early” morning serum cortisol sample, generally taken some considerable time after the child has woken. This risks missing the morning cortisol peak, leading to false positive results. It requires venepuncture, which is unpleasant for children. Saliva collection is non-invasive, simple and can be undertaken on waking at home, providing a...

Introduction: FKBP prolyl isomerase 4, encoded by the gene FKBP4, is a member of the FK506-binding protein family and is presumed to be a regulator of the androgen receptor (AR) pathway. Mutations in FKBP4 have been proposed to cause Androgen Insensitivity Syndrome (AIS), with only one case reported in the literature so far.Aim: To report the clinical, biochemical and genetic findings in an infant with 46, XY DSD a homoz...