Endocrine Abstracts

This is the case of a now 37 years old female. She was diagnosed with classical salt wasting congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency at 1 week after birth. She highlights the challenges of living with CAH. She struggled all through her childhood and adolescence with the burden of treatment, difficulties with compliance and the effects of the inadequate control of hyperandrogenism. In adulthood supraphysiological doses of exogenous steroids lead to...

Introduction: Hyperparathyroidism is the most common cause of hypercalcemia. We present another endocrine cause for hypercalcemia.Case report: A 49 year old Afro Caribbean man, previously healthy, was admitted with abdominal pain. He had been complaining of a 2 week history of epigastric pain, loose stools, sweating and shortness of breath. On examination, the patient was unwell, afebrile with epigastric tenderness. Bloods results showed anaemia, Haemogl...

Introduction: Food reward stimuli elevate dopamine levels in brain reward circuits. Decreased dopaminergic signalling may be involved in pathophysiological processes leading to obesity and D2 receptor antagonists (antipsychotics) are associated with a higher risk of obesity. One study has demonstrated an association between the use of a dopamine D2 agonist (bromocriptine) and weight-loss in patients with prolactinoma. We have investigated the effect of cabergoline on body weig...

IntroductionLeukocyte recruitment is a key feature in (I/R)-induced tissue injury. We have developed and validated a novel method to study molecular mechanisms of leukocyte-endothelium interactions in the colonic microcirculation in vivo by use of inverted intravital fluorescence microscopy.Methods & ResultsIn male C57/BL6 mice the superior mesenteric artery was occluded 30 min and leukocyte rolling and ...

Autoimmune polyglandular syndrome type 2 (APS-2) is cluster of autoimmune diseases characterized by autoimmune adrenal insufficiency and thyroid disease (Schmidt’ syndrome) with or without type 1 diabetes (carpenter syndrome). This autoimmune condition may be associated with hypogonadism, hypopituitarism, immunoglobulin A deficiency, myasthenia gravis, celiac disease, and vitiligo. Co-existence of myasthenia gravis and APS 2 is extremely rare and their common etiology has...

Introduction: First described in 1944, the condition is a rare pediatric genetic disease estimated to affect 1 in 48 000 individuals. Kallmann syndrome is an uncommon hereditary disorder and is among the most frequent cause of isolated congenital hypogonadotropic hypogonadism (CHH). In its classical form, it is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Absent endogenous GnRH-induced LH pulsations occur due to failure of neuronal migr...

17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with gonads (testes) intact. Their bodies, however, do not produce enough testosterone. Testosterone has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the male phenotype of external genitalia before birth.Case report: 12 years old, re...

Background: Childhood obesity and type 2 diabetes mellitus (T2DM) have increased proportionately in the last decade. Oral glucose tolerance test (OGTT) is recommended for paediatric patients with a BMI >98th centile (NICE, 2014) to identify T2DM or abnormal glucose homeostasis (AGH).Aim: To estimate the proportion of patients with AGH/T2DM seen in a tier 3 obesity service and evaluate the utility of the glycated haemoglobin (HbA1C) in detecting AGH. ...

A rare skeletal dysplasia-Progressive Pseudorheumatoid dysplasia—close mimicker of juvenile idiopathic arthritisIntroduction: Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive arthropathy of childhood involving the entire skeleton. Here we report first genetically proven case of PPRD from the country. Often mistaken as juvenile rheumatoid arthritis,...

Background and Purpose: AHC (X-linked adrenal hypoplasia congenita) is a rare cause of adrenal insufficiency due to mutations in NROB1 gene. It traditionally causes hypogonadotropic hypogonadism. Rare cases of central precocious puberty due to NROB1 mutation has been reported so far. We present two interesting cases of NROB1 mutation from a same family with different presentations. This is first case report of NROB1 mutation from Pakistan. Case Report: I...