Endocrine Abstracts

Achieving high quality medical care is challenging. Constant assessment is required to identify areas of best practice and deficits in care. The quality of healthcare is multifaceted as healthcare is a complex process. Benchmarking can be an effective measure to assess quality of healthcare. Clinical benchmarking is a systematic process in which current practice and care are compared to, and amended to attain, best practice and care. Benchmarking has the potential to drive imp...

A 5.65-year-old boy was referred with a 2-month history of accelerated growth and pubic hair development. Weight and height were >98th C. Pubertal assessment was G3 PH2 AH1 TV 5 ml/4 ml. There was no family history of precocious puberty. No birthmarks, or abdominal masses were present. Blood pressure was normal. Investigations revealed elevated testosterone (7.1 nmol/l), suppressed gonadotropins (LH <0.2 IU/l), normal 17-OHP, androstenedione and DHEAS, prepubertal LHRH...

Introduction: Differences in sex development (DSD) services now include psychology provision as standard care within MDTs. Caregivers and CYPs have wide-ranging biopsychosocial needs and care should be delivered via holistic, specialist MDTs, including access to specialist clinical psychology.Objective: Evaluate i) psychology input required for children with DSD, ii) review interventions typically accessed via specialist psychology, iii) evaluate clinici...

Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a 46,XX DSD condition associated with typical pubertal development, primary amenorrhea (absent uterus) associated with agenesis of the cervix and upper third of the vagina. Following diagnosis, optimal care strategy is unclear.Objective: Evaluate i) input required from the DSD MDT ii) establish main care requirements iii) review interventions typically accessed via the specialist DSD cl...

Background: The 24-hydroxylase enzyme is responsible for the degradation of 1,25-dihydroxyvitamin D3. Loss of function mutations of the gene encoding 24-hydroxylase, CYP24A1, may cause hypercalcaemia, nephrolithiasis and nephrocalcinosis, and are responsible for some cases of idiopathic hypercalcaemia of infancy.Case: The index case presented with faltering growth at 4 months old. She was hypercalcaemic with serum calcium 2.79 mmol/l (normal r...

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. An age-appropriate low dose hydrocortisone formulation is not available therefore manipulation a 10 mg tablet is required with potential for inaccurate dosing.Aims: To assess the variability in manipulation procedures recommended by healthcare professionals and undertaken by parents/carers. To quantify the dose-variabil...

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is rare and caused by mutations in the steroidogenic acute regulatory (STAR) gene, which is involved in a key step in the synthesis of pregnenolone from cholesterol. Cases typically present in the first days of life with severe adrenal crisis, salt wasting and severely disrupted androgen secretion which may result in sex reversal in 46, XY individuals.Case report: We present a 21-month-o...

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: Temple syndrome (TS) is a disorder caused by dysregulation of imprinted genes at chromosome 14q32. It is important to distinguish the growth pattern from other imprinting disorders such as Russell–Silver and Prader–Willi syndromes.Aims: To describe the growth pattern in TS.Methods: 51 cases were identified from 11 countries. Height, weight, birth weight and head circumference were converted to SDS using countr...

Background: Osteoporosis and increased fracture risk associated with cystic fibrosis (CF) are becoming more relevant with improved life expectancy in this disease. The evolution of CF-related bone disease remains unclear.Aims: To evaluate change in bone mineral density (BMD) in individuals with CF from age 10 to 30 y.Methods: Data from the UK CF Trust registry, which contains anonymised clinical information, was used to evaluate BM...