Endocrine Abstracts

Glycogen storage disease, which is a metabolic disorderof glycogen storage, affecting 1 in 20000-40000 ive births. This is a case of yound adolescent female with glycogen storage disease type1b, presented with lactic acidosis and managed in ITU.18 years old femae from Honk kong, student in a college, admitted to a dgh hospital with fever, vomiting and abdominal pain for a week. examination showed severe features of dehydratio...

Glycogen storage disease, which is a metabolic disorderof glycogen storage, affecting 1 in 20000-40000 ive births. This is a case of yound adolescent female with glycogen storage disease type1b, presented with lactic acidosis and managed in ITU.18 years old femae from Honk kong, student in a college, admitted to a dgh hospital with fever, vomiting and abdominal pain for a week. examination showed severe features of dehydratio...

Background: Conventional management for thyrotoxicosis includes anti-thyroid medications, radioactive iodine and/or surgery. However, in some cases patients are resistant to first line drugs and need second line treatment to normalize thyroid function tests (TFTs) before considering definitive therapy. We present a case of Grave’s disease where patient didn’t respond to first line anti-thyroid medications and required Lithium and Cholestyramine to achieve euthyroid s...

Background: Vitamin D supplements are readily available without prescription. Although vitamin D toxicity is infrequent, rising use may lead to an increase in reported cases. We present a case of hypercalcemia and acute kidney injury due to excess vitamin D intakeCase: A 46-year-old woman was admitted with three-month history of lethargy, reduced oral intake, and constipation. She also experienced intermittent nausea and...

This case highlights the lessons learnt from a patient who was diagnosed 37 years following presentation with abnormal Thyroid Function Tests (TFTs). Mrs ID had a subtotal thyroidectomy in 1983 for thyrotoxicosis and was started on levothyroxine. She was referred to endocrine services in 2003, and was noted to have a small goitre and abnormal TFTs. Follow up consultations concentrated on thyroxine dose adjustment and querying compliance. She had a background of COPD, CVA (2018...

Introduction: Diagnosing acute abdominal presentations in pregnant women poses challenges due to the physiological and anatomical changes during pregnancy. The differential diagnosis is broad, encompassing both obstetric and non-obstetric causes. Among the rare occurrences, nonhemorrhagic adrenal infarction presents a particularly unusual scenario, lacking established guidelines for management and follow-up. We discuss a case of nonhemorrhagic adrenal infarcti...

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...

We report the case of a previously healthy, 40 years old obese male, who was admitted in emergency with complaints of chest pain, shortness of breath and loose stools. His physical examination was relatively unremarkable except for sinus tachycardia and restlessness. He had no history of ischemic heart disease. He was admitted under cardiologists and had various investigations (echocardiogram, stress test and coronary angiogram), all normal. Due to the presentation, thyroid fu...

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...