Endocrine Abstracts

Background: Recombinant human growth hormone (r-hGH) has been used for more than 30 years and indications for r-hGH have multiplied worldwide. There has been concern that it might raise mortality, but published data are limited.Methods: The cohort comprised of 3902 UK patients over 18 years of age in 2009, treated with childhood r-hGH at all the major UK growth centres. The total European cohort was 24 232 from eight countries (including the UK), with > ...

Objectives: X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. We report relevant real-world biochemical data following the first 6 months of buros...

Background: The initiation of puberty is heralded by increasing gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. During embryonic life the GnRH neuroendocrine network develops thanks to a coordinated migration of neurons from the nasal placode to the forebrain. Our group has previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the population and is associated with adverse h...

Introduction: Craniopharyngiomas (CPs) are histologically benign tumours but are clinically associated with significant morbidity and mortality. Recurrence of CPs is known to influence mortality, but apart from the extent of surgical resection, no clinical characteristics have been shown to predict recurrence. Complete resection is difficult due to their infiltrative behaviour and unacceptable morbidity. Thus, predictors of risk of recurrence are needed....

Background: Silver-Russell Syndrome (SRS) is a clinically and genetically heterogenous condition. 40% patients with ‘clinical’ SRS remain without a genetic diagnosis despite fulfilling the Netchine-Harbison Clinical Scoring System (NH-CSS) criteria. There is increasing recognition of the wide range of clinical phenotypes within the SRS spectrum and overlap with other short stature syndromes.Methods: We analysed 26 undiagnosed patients with feat...

Background: DSD services are evolving across the UK in response to both family, professional and societal pressures but MDT provision and access to specialist DSD services varies. In November 2017, DSD Clinical Standards were published by the BSPED Clinical Committee with the aim to improve and standardise DSD patient care and these were audited in March 2019. 95% of DSD centres responded with 85% listing psychology as part of their MDT.Aim: 1. To unders...

Objectives: Noonan Syndrome (NS) is an autosomal dominant multi-system disorder characterised by short stature (SS), distinctive facial features and cardiovascular abnormalities. Mutations in multiple genes regulating the RAS-MAPK pathway have been identified in NS including 5 recently described novel LZTR1 variants. We identified 2 novel LZTR1 variants in patients with features of growth hormone insensitivity and NS. The molecular function of LZTR1 ...

Background: SGPL1 carries out the final degradative step of the sphingolipid pathway, irreversible cleavage of sphingosine-1-phopshate. SGPL1 deficiency is associated with a pathological accumulation of sphingolipid species and a multi-systemic condition incorporating primary adrenal insufficiency (PAI). Sphingolipid intermediates, ceramide and sphingosine are postulated to act as modulators of the steroidogenic pathway, acting as second messengers altering downstream expressi...

Introduction: There is limited knowledge on the impact of congenital adrenal hyperplasia (CAH) on the health and well-being of children and young persons (CYP). We aimed to establish the health status of CYP with CAH across the United Kingdom.Methods: We conducted a national multi-centre prospective study recruiting 107 patients aged 8–18 with 21-hydroxylase deficiency from 14 centres and 83 matched controls. Demographic, clinical, metabolic data, a...