Endocrine Abstracts

Introduction: HNF-1β maturity-onset diabetes of the young (MODY5) is uncommon, nevertheless accurate diagnosis guides individualized management and informs prognosis in probands and relatives.Objective: To emphasize the importance of the appropriate use of clinical, biochemical and genetic investigations for the correct classification of diabetes etiology.Case-report: A 35-year-old overweight Latin-American male was diagnosed ...

Introduction: Maternally inherited diabetes and deafness (MIDD), is a rare entity. Most commonly, it is related to a point mutation in the mitochondrial DNA (mtDNA) at position 3243 (m.3243A>G) encoding the gene for tRNA. A high index of suspicion is required for the diagnosis due to a wide heterogeneity in its clinical presentation which reflects different levels of mutated mtDNA among mitochondria in a given tissue (heteroplasmy). Thyroid cancer risk has never been speci...

Introduction and aim: Obesity is a public health problem characterized by metabolic and endocrine disorders. Currently, it has been observed an increase of the obesity induced by high fat diet (HFD) and, considering that small intestine is the most important absorptive site of the nutrients, it is very interesting to evaluate the impact of HFD intake on that first place of nutrients entry, that is, the small intestine. Taken into account that dyslipidemia and hypertension are ...

We report an 18-year-old boy referred to our outpatient clinic at 8 years and 11 months of age with a history of early-onset childhood hiperphagia, infantile central hipotonia and lethargy, mild mental retardation and emotional instability. His height was 125 cm, height SDS = -1 (target height = 169,5 cm, SDS = -0,78) and he weighted 40 Kg (BMI = 25,6;WFH =164%). He had small hands and feet, fat face with prominent forehead, bitemporal narrowing, triangular upper lip, microgna...

Background: Measuring testicular volume (TV) by orchidometer is a standard method of pubertal staging in boys. A paucity of evidence exists as to its inter and intra-user reliability and the impact of clinicians’ gender, training and experience on the accuracy of measurements. Specifically engineered prosthetic models of different size testes were developed to investigate the reliability of TV estimation.Method: The study was conducted over the thre...

IntroductionThe Sodium Iodide Symporter (NIS) is responsible for the active transport of iodide into thyroid cells. Most of differentiated thyroid carcinomas (TC) retain the functional expression of NIS, which allows the use of radioiodide (RAI) as the systemic treatment of choice for metastatic disease. Still, a significant proportion of patients with advanced thyroid cancer fail to respond to RAI therapy (refractory-TC), which makes their management ve...

IntroductionMaturity Onset Diabetes of the Young (MODY) affects 1–2% of diabetic patients. Subtype 5 (HNF1β mutation) is rare (~1% of all MODY subtypes) and extra-pancreatic manifestations are often present (chronic kidney disease (CKD), liver disease and/or genitourinary malformations).AimTo report and review confirmed MODY 5 cases in an Endocrinology Department.Meth...

IntroductionVitamin B12 (vB12) deficiency has been associated with a plethora of hematologic, neurologic and metabolic abnormalities. In pregnant women, several studies have demonstrated an association with a greater maternal body mass index (BMI), maternal and offspring insulin resistance, gestational diabetes mellitus (GDM) and even later type 2 diabetes.Aim of the studyEvaluation of maternal and fetal outc...

IntroductionThe Carney Complex (CNC) is a rare, autosomal dominant, multiple endocrine neoplasia. It involves multiple endocrine glands, cardiac and skin myxomas, mammary fibroadenomas and mucocutaneous pigmentation. Cushing’s syndrome, due to primary pigmented nodular adrenocortical disease (PPNAD), is described in 25% of the cases.Case reportWoman, 21-year-old, was refered for secondary amenorrhea. Med...

IntroductionSevere hyperandrogenism is a warning sign in young women. Differential diagnosis includes neoplastic, non-neoplastic and iatrogenic causes. The association of hyperandrogenism and congenital or acquired portosystemic shunt (PSS) has been rarely described, with its pathophysiology being unclear.Case 1A 22 year-old woman with diagnosis of autoimmune hepatitis, portal hypertension and PSS since 15 ye...