Endocrine Abstracts

Background: Children with undiagnosed coeliac disease are at risk of low bone mineral density (BMD), but whether this translates to fracture predisposition is unclear. In adults with coeliac disease anti-osteoprotegerin (anti-OPG) antibodies have been identified. OPG inhibits RANK ligand activation of osteoclastic bone resorption, and thus anti-OPG antibodies promote bone loss. We report a case of osteoporosis with elevated anti-OPG antibodies in a child with coeliac disease.<...

Background: Cholesteatoma, a serious suppurative middle ear condition, has an increased prevalence in Turner syndrome (TS).Aims: To estimate its incidence in our TS population; identify risk factors; highlight distinctive operative findings; and suggest strategies for earlier detection.Methods: Retrospective casenote review for patients attending a TS clinic to identify those with cholesteatoma; each age-matched with three unaffect...

Introduction: Germline AIP and MEN1 mutations are the main known aetiologies of familial pituitary neuroendocrine tumours (PitNETs), which represent 5% of all PitNETs. We compared the clinical and tumour characteristics of AIP (AIP mut) and MEN1 mutation-positive (MEN1 mut) PitNET patients.Methods: We retrospectively analysed 70 MEN1 mut and 167 AIP mut patients with PitNETs. MEN...

Aims: We studied the association of newborn screening (NBS) on early infancy outcomes in 21-hydroxylase deficiency (21OHD) congenital adrenal hyperplasia (CAH), using I-CAH registry data.Methods: From 2018-2023, data was available for 121 infants with 21OHD CAH (52 male) during the first 90 days of life from 26 centres in 15 countries. NBS was performed in 15 centres from 9 countries.Result...