Endocrine Abstracts

Background: Familial male-limited precocious puberty (FMPP) or ‘testotoxicosis’ is a rare form of gonadotrophin-independent precocious puberty. There is a paucity of data on final adult height in these patients and no consensus on what constitutes appropriate treatment. Our aim was to assess the management and final height of patients with FMPP under our care as well as those reported in the literature.Methods: Growth data were obtained from no...

Introduction: The commonest pathological cause of goitre in adolescence in the UK is autoimmune thyroid disease. Other thyroid pathologies may occasionally co-exist either linked to the autoimmune process or occurring together by chance.Case report: A previously fit and healthy 15-year-old male presented as an emergency with a 10-day history of painless neck swelling. He had no breathing difficulty, dysphagia or voice change and was also clinically euthy...

Background: Arginine Vasopressin (AVP) measurement is difficult. When available there has historically been a lengthy interval between sampling and a result. Co-peptin is a 39 amino-acid glycopeptide that is derived from a pre-prohormone consisting of AVP, neurophysin II and co-peptin. It is released in an equimolar ratio with AVP into the circulation. Co-peptin is stable and can be used as a surrogate marker of AVP release in hyper and hypo-osmolar disorders. Many laboratorie...

Background: Preterm infants represent around 10% of births worldwide and have increased risk of adverse metabolic outcomes in later life. The approach to feeding preterms must balance the need to promote brain growth by providing adequate nutrients whilst avoiding potentially harmful excess nutrition.Objective: To investigate the association between patterns of weight gain in infancy and childhood with later insulin sensitivity in adolescents who were bo...

Introduction: Monitoring glucocorticoid (GC) replacement in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) remains challenging. There are disease-specific patterns in the plasma and urinary steroid profiles in 21OHD, a key role being played by the 11-oxygenatedC19 androgens. Aim: To explore the urinary steroid profile in 21OHD in relation to treatment and plasma steroids. Methods: Partic...

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...

Introduction: Monitoring of hormonal control represents a key part in the management of congenital adrenal hyperplasia (CAH). It remains suboptimal and relies on frequent blood tests, which are traumatising in children and young persons (CYP). Recent evidence suggests a crucial role of adrenal-derived 11-oxygenatedC19 androgens in the pathogenesis of CAH. Therefore, we aimed to establish a non-invasive test for monitoring of adrenal-specific androgens in CAH.<p class="abst...

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as ‘benign’. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...

Background: CYP11A1 encodes the P450 side chain cleavage enzyme (P450scc) responsible for initiating steroidogenesis and classically gives rise to disordered sex development plus adrenal and gonadal insufficiency. The rs6161 variant in exon 5 of CYP11A1 (c.940G>A; p.E314K) has previously been considered as ‘benign’. When next generation sequencing was performed in patients with primary adrenal insufficiency of unknown etiology the rs6161 variant was foun...

Introduction: Non-syndromic pituitary gigantism can result from AIP mutations and the recently identified Xq26.3 microduplications causing X-LAG.Patients and methods: DNA samples and clinical data were collected from 151 patients with pituitary gigantism. All samples were tested for AIP mutations; AIP mutation negative cases (AIPneg) were screened for Xq26.3 microduplications.Results: Xq26.3 micr...