Endocrine Abstracts

Introduction: Bardet-Biedl Syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000–160,000, caused by mutations across >20 known genes encoding for proteins responsible for primary cilium/basal body complex integrity. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been reported; howe...

Background: Hypogonadotropic hypogonadism (HH) is a key cause of absent, partial, or arrested puberty. Individuals with HH experience central disorders of the hypothalamic-pituitary-gonadal (HPG) axis, with deficiency in gonadotropin-releasing hormone (GnRH). This leads to inadequate pituitary gonadotropins (luteinising hormone (LH) and follicle-stimulating hormone (FSH)), resulting in immature gonadal development. It has substantial consequences including inf...

Based on the traditional belief that the lower vagina does not form owing to excess androgens in utero, extensive dissections are undertaken to bring the vagina down to the skin level in 46XX CAH individuals. However, long held knowledge about the embryological origins of the lower vagina and the key role of androgens has been questioned by genetic and molecular studies [Cai Y. 2009. https://doi.org/10.1387/ijdb.082846yc ]. Our aim was to assess the level of the vaginal introi...

The European Academy of Andrology (EAA) published the first consensus guideline on KS in 2021 to standardise the care provided to patients with Klinefelter Syndrome (KS) in various developmental stages. We conducted an online national survey advertised in the British Society of Paediatric Endocrinology and Diabetes newsletter (BSPED) to evaluate clinical care provided to children and young people (CYP) with KS. The survey ran over a period of 4 months (January-April 2023). We ...

Background: Cardiometabolic risk is linked to being small for gestational age (SGA, birthweight <-2SDS). Using data from the Avon Longitudinal Study of Parents and Children (ALSPAC), an ‘omic signature in SGA catch-up children predicts pre-hypertension in adolescence. Suboptimal fetal growth (SFG) alone may be linked with greater cardiometabolic risk. Therefore, we focused on cardiometabolic risk in children born following pregnancies at higher risk f...

Delayed puberty (DP) is defined as pubertal onset 2-2.5 SDs later than the general population. The most common aetiology is self-limited DP (SLDP). However, during adolescence, it is a clinical challenge to differentiate SLDP from the more severe disease congenital hypogonadotrophic hypogonadism (HH). This study sought to elucidate phenotypic and genotypic discrepancies between the two diagnoses to improve diagnosis and management. This was a retrospective study of a UK DP coh...

Introduction: Asymptomatic hypercalcaemia in infants who are exclusively breast-fed is recognised in clinical practice but has never been evaluated and outcomes described if breast feeding is continued.Objective: We conducted a novel retrospective analysis to evaluate the biochemical and radiological outcomes of breast milk-induced hypercalcaemia. Methods: A multi-site retrospectiv...

Introduction: Childhood obesity is associated with various complications and medical treatment options are limited. Liraglutide, a GLP-1 receptor agonist, has shown improvement in body mass index (BMI) in clinical trials and has been licensed for clinical use in adolescents >12 years of age. The aim of our study is to evaluate the effect of liraglutide treatment on cardiometabolic variables, quality-of-life (QoL) and satiety levels in adolescents with seve...

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...