Endocrine Abstracts

Hirata syndrome is a rare cause of spontaneous hypoglycaemia, more prevalent in Japanese population, very infrequent in Caucasian patients. It has been described that it can be triggered by medication with sulfhydryl compounds or α-lipoic acid. A 73-year-old male patient was sent to the Endocrinology Division in December 2015 because he had been presenting with episodes of sweating, palpitations and feeling hungry for 6 months; these symptoms improved when he ate carbohyd...

A 56-year-old woman, recently commenced on immunotherapy as second-line treatment for advanced non-small cell lung cancer, presented at the hospital critically unwell with severe diabetic ketoacidosis (DKA) (glucose 47 mmol/l, blood ketones 7.5 mmol/l, pH 6.95, bicarbonate 6.6 mmol/l). One week prior to presentation, she was clinically well with random glucose of 6.1 mmol/l. Following admission to Intensive Care Unit, she responded well to standard treatment for DKA and discha...

Introduction: The use of highly active antiretroviral therapy in 1996 helped greatly reduce the morbidity and mortality in patients infected by HIV. Very quickly, secondary metabolic complications to this same treatment have been described. Dyslipidemia occupy a large part of these complications and give the patients an atherogenic profile favouring the occurrence of acute coronary events. We report a case that illustrates the lipid abnormalities associated with anti retrovira...

Incidence of acute thyroiditis is about 0.1% of thyroid gland conditions requiring surgical treatment. Main pathogen causing acute thyroiditis is Staphylococcus aureus while Salmonella enterica is extremely rare.Herewith we report a 61-year-old obese woman with sore throat and fever. She had chronic atrial fibrillation, hypertension, and well-controlled type 2 diabetes mellitus (HbA1C 5.5%) for 3 years (on metformin and gliclazide). Her...

Berardinelli-Seip syndrome is an autosomal recessive disorder characterized by generalized lipoatrophy, extreme insulin resistance with dyslipidaemia in childhood and development of diabetes and hepatic steatosis in adolescence. The metabolic derangements can be severe and lead to substantial comorbidities, including acute pancreatitis, hepatic cirrhosis, and premature cardiovascular disease. Other manifestations can include polycystic ovarian syndrome, acanthosis nigricans, a...

A 49-year-old male was referred to our Hypertension Clinic with uncontrolled hypertension, treatment Valsartan/Amlodipine/Hydrochlorothiazide 80/10/25 mg + Doxazosine 4 mg. Mean home BP was 156/103 mmHg. Personal history: dyslipidaemia, central obesity and type 2 diabetes, with mild diabetic retinopathy, persistent microalbuminuria and preserved renal function. Treatment: Metformin/Sitagliptin 1000/50 mg BID; Pravastatin/Fenofibrate 40/160 mg. Height 172 cm, weight 112 kg, BMI...

Introduction: Morgagni-Stewart-Morel syndrome is a disorder defined by the presence of internal frontal hyperostosis, variably associated with metabolic disorders, endocrine and neuropsychiatric disorders. Hyperostosis frontalis interna (HFI) is a morphological change of the frontal bone like a single or multiple bilateral nodules on the inner lamina, characteristically sparing the diploë and the midline calvaria.Case presentation: We present a 61-y...

Introduction: Glycogen storage disease (GSD) type Ia (von Gierke’s disease) is an inherited metabolic disorder of glycogen metabolism, caused by defects in the glucose-6-phosphatase complex, with associated risk of severe hypoglycemia within 3–4 h after a meal.The aim of the present study was to evaluate the efficacy of continuous glucose monitoring (CGM) system in determining the magnitude of hypoglycemia in patients with GSD type Ia.<p cl...

A 26-year-old Chinese male with autism spectrum disorder and mental retardation, was referred to start insulin therapy for uncontrolled diabetes mellitus (DM) (HbA1c: 9%; C-peptide: 1.75 ng/ml; anti-GAD AB: negative) treated with oral antidiabetic drugs since 2012.Clinical examination revealed a tall man with overweight and truncal obesity in light of his ethnicity. We withheld facial dysmorphism with hypertelorism, scarce facial hair, and clinodactyly. ...

Introduction: Woodhouse-Sakati Syndrome (WSS) is a very rare autossomic recessive disorder caused by mutations in DCAF17 gene that primarily affects the endocrine and the nervous systems. It is associated with hypogonadism, diabetes mellitus, hypothyroidism, sensorineural hearing loss, alopecia and extrapyramidal findings. Treatment is symptomatic and managed by multidisciplinary teams. Less than 80 cases are reported to date.Case repor...

A 45-year-old female presented with recurrent episodes of neuroglycopaenic symptoms 6 years after Roux-en-Y gastric bypass surgery. Her symptoms occurred during both the fasting and postprandial state. She had a history of Rheumatoid Arthritis. Her symptoms did not response to a complex carbohydrate diet or Acarbose use.Whipple’s triad was demonstrated during a 72 h fast; symptomatic hypoglycaemia (1.8 mmol/l) occurred which resolved with glucose ad...

The Insulin Autoimmune Syndrome (IAS) also called Hirata’s disease consists of hypoglycemia, high insulin concentration and presence of anti-insulin antibodies. IAS is the third leading cause of spontaneous hypoglycemia among Japanese population. The syndrome is exceptionally rare among Caucasians, with <50 cases described in literature.In this report we showcase a 67 year-old female patient. She presented with paroxysmal sweating, daily fatigue...

Introduction: Acquired generalized lipodystrophies (AGL) are rare syndromes characterized by complete loss of subcutaneous adipose tissue and very low serum leptin levels. AGL are complicated by severe insulin resistance, diabetes mellitus, dyslipidemia and fatty liver. In most patients evidence exists of an autoimmune etiology.Case report: We herein describe the case of a Caucasian woman who was diagnosed with lipodistrophy at 5 years of age, when she b...

Intentional insulin overdose in diabetic patients is a rare critical situation. The severity is due to numerous neurological complications, electrolyte disturbances, liver and lung damage or death.A 76-years old female, with significant cardiac pathology, diagnosed with type 2 diabetes and treated with Humalog Mix50® 0-0-24 U/day, is admitted to our center via ER (emergency room) after an episode of severe hypoglycemia after administratio...

Upper extremity deep vein thrombosis (UEDVT) is not infrequent and accounts for approximately 14% of deep vein thrombosis. The risk of pulmonary embolism is lower than in lower extremity DVT and prompt diagnosis is essential to select those patients who deserve anticoagulant treatment. Previous studies indicated that type 2 diabetes (DM) patients carried greater risk of DVT development or recurrence than the general population.A 49-years old female, with...

Polyglandular autoimmune syndromes (PAS) are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected. In PAS III, autoimmune thyroiditis occurs with another organ-specific autoimmune disease, but the syndrome cannot be classified as PAS I or II.A 29-years old man was refer to our center for diagnostic confirmation with the following complaint...