Endocrine Abstracts

Introduction: Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of disorders that have in common end-organ unresponsiveness to parathyroid hormone (PTH). The most frequent form, PHP type 1, results from different genetic/epigenetic changes in the GNAS gene.Case 1: Woman, 25 years-old, sent to Endocrinology from Genetics consultation after her daughter had been diagnosed with PHP type 1a (heterozygous pathogenic variant at exon 13 of...

Introduction: Amyloidosis results from deposition of insoluble proteins in the extracellular space. It can be both primary or secondary to chronic inflammatory diseases. Although microscopic thyroid involvement is common, cases in which it becomes clinically evident (amyloid goiter) are rare.Case report: Woman, 45 years. In 2009, she was diagnosed with Crohn’s disease after Bartholin’s gland abscess excision and evaluation for weight loss, anem...

Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder. It can be sporadic or familiar and is divided into anosmic hypogonadotropic hypogonadism (Kallmann syndrome - KS) and congenital normosmic isolated hypogonadotropic hypogonadism (idiopathic hypogonadotropic hypogonadism ‐ IHH). A growing number of genes are involved in its etiology, suggesting the heterogeneity and complexity of this condition.Cases Reports: Six cases...

Introduction: Chronic somatotropin (ST) hypersecretion has systemic effects. It can cause important structural and functional cardiovascular (CV) changes, which can result in increased morbidity and mortality.Case report: A 48-year-old, male. followed by cardiology since 2005 for dilated cardiomyopathy (DCM) (Ecocardiography: moderately dilated left ventricle with globular appearance. Severely impaired global systolic function - LVEF 25%. Right cavities ...

Introduction: Atypical pituitary adenomas have higher risk of aggressive behaviour in particular by the higher growth, local invasion and high risk of recurrence after surgery. In acromegaly the resistance to somatostatin analogues may be another manifestation of these adenomas since higher levels of Ki-67 are associated with poor response to therapy.Case report: A 41-year-old woman presented to our consult with history of headaches, growth of the hands,...

Introduction: Graves’ orbitopathy is usually associated with Graves’ Disease, which is typically characterized by hyperthyroidism and goiter. However, in rare situations, Graves’ disease can also present with hypothyroidism and orbitopathy.Case report: Male, 38 years old, followed by his ophthalmologist for thyroid orbitopathy (exophthalmos right>left and conjunctival hyperaemia since 1 year ago) associated with asthenia, tiredness and...

Introduction: During childhood and puberty, growth hormone(GH) is essential for linear growth. Consequently, children with isolated GH deficiency(GHD) must receive replacement therapy. GH has also important metabolic actions. GHD in adults is associated with altered body composition. However, long-term consequences of GH treatment in adults is not sufficiently known.Objective: To evaluate GH treatment during pediatric age in patients with isolated GHD.</...

Background: Hypomagnesemia is common in patients with diabetes; possibly due to higher renal magnesium excretion in those patients. Hypomagnesemia seems to correlate with poor glycaemic control. The relationship between urinary magnesium (UMg) and glycaemic control is not known. We aimed to study the association between UMg and glycaemic control in a type 1 diabetes (T1D) pediatric population.Methods: Study of a pediatric population with T1D attending th...

Introduction: Immunossupression is a possible consequence of hypercortisolism, putting these patients in a state of increased risk of infections.Case report: Female, 19 years old. In July 2014 she seek for medical care because she became feverish and developed an erythematous rash on her face/trunk with subsequent widespread to the entire body. She was admitted in the ICU with the diagnosis of severe varicella with acute cholestatic hepatitis and conflue...

Introduction: Diabetes mellitus (DM) is a chronic disease that requires continuous medical care. Health care providers should adopt approaches that improve patient outcomes and adherence.Aims: To evaluate the adherence to Endocrinology ambulatory follow-up after elective hospital admission for decompensated DM and to determine the relationship between adherence and therapeutic success after discharge.Methods: Retrospective study of...