Endocrine Abstracts

Introduction: There are contradictory results concerning bone mineral density status in adult patients with congenital adrenal hyperplasia. To resolve this issue, we hypothesized that there could be a correlation between BMD and a total cumulative glucocorticoid dose from the diagnosis in early infancy to adulthood. We then conducted a retrospective in a referral centers for CAH. Thirty-eight adult patients (28 women, 10 men, aged 16–39 years) suffering from CAH and treat...

Introduction: Globally, the main cause of mortality of type 1 diabetes (T1D) is lack insulin access. There is minimal data of health outcomes for T1D in low-middle-income countries (LMICs) in South-East Asia (SEA) where government funding of insulin and blood glucose monitoring kits either do not exist or is limited. Action4Diabetes (A4D) is a non-government organisation (NGO) initiated in 2016 and supports children and young people (CYP) with T1D in five countries -Laos, Mala...

Case history: A 43-year-old Syrian woman presented with severe right thigh pain following a fall from standing height. Progressive hip and back pain in the preceding 18 months resulted in her mobilizing with crutches. Past medical history included a reported bony tumour resected from her wrist three years earlier, clavicle fracture and previous renal calculi. She took no regular medications.Investigations: Pelvic radiograph showed a right proximal femora...

Langherhans cell histiocytosis (LCH) and Erdheim-Chester (EC) are two histiocytic disorders which occurrence in the same patient has rarely been described. Thyroid involvement of LCH is rare, and concurrent papillary thyroid carcinoma (PTC) exceptionally reported. We report a case of a 73 year old man who presented a diagnosis of mixed histiocytosis LCH and EC. The patient suffered of insipidus diabetes since 1 year without pituitary abnormality but clinical examination showed...

The granulation pattern of somatotroph adenoma is well known to be associated with differing clinical and biochemical characteristics and it has been shown that sparsely granulated tumors respond poorly to commonly used somatostatin analogs. We report a challenging case of acromegaly with a sparsely granulated tumor, resistant to multiple modalities of treatment given over several years and ultimately achieving biochemical control with pasireotide. A 26-year-old lady presented...

Purpose: Previous studies have established that obstructive sleep apnea (OSA) frequently co-exists in persons with type 2 diabetes (T2DM) with negative effects on glycemic control and functional outcomes. However, there is limited data about the effect of insomnia or co-morbid OSA and insomnia among those with T2DM. We compared glucose control, functional outcomes, sleep quality, and daytime sleepiness among 4 groups of participants with T2DM: (i) OSA, (ii) insomnia, (iii) OSA...

Prostate cancer (PC) becomes resistant to chronic castration via an adaptive increase in androgen receptor (AR) axis activity. AR overexpression, however, is a liability that can be exploited therapeutically through rapid cycling between high supraphysiologic and low castrate levels of serum testosterone (T), (Bipolar Androgen Therapy (BAT)). In a pilot study, 14 men with CRPC treated with BAT showed a 50% PSA and objective response. A larger study was initiated in which asymp...

Background: Silver-russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify (a) response to GH based on genotype and (b) developme...

Background: Mutations in the insulin receptor (INSR) gene are rare and cause a spectrum of severe insulin resistance syndromes including Donohue syndrome, Rabson Mendenhall syndrome, and Type A Insulin Resistance Syndrome (IRS). We describe a young female with a heterozygous INSR mutation, who presented with antibody positive diabetes mellitus (DM) and subsequently developed features of Type A IRS.Case Report: A 12 year old Jamaican gir...

Background: Gestational diabetes (GDM) can be driven by mutations or rare variants in various genes associated with monogenic or atypical forms of diabetes. The reported frequency of monogenic defects of beta cell function in GDM varies extensively, in part due to differences in ethnicity, patient ascertainment criteria and techniques used for genetic analysis. The objective was to evaluate the frequency and molecular spectrum of mutations in a curated list of genes associated...